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What is (are) Medullary cystic kidney disease 1 ?

Medullary cystic kidney disease (MCKD) is a chronic, progressive kidney disease characterized by the presence of small renal cysts that eventually lead to end stage renal failure. Symptoms typically appear at an average age of 28 years and may include polyuria (excessive production or passage of urine) and low urinary osmolality (decreased concentration) in the first morning urine. Later, symptoms of renal insufficiency typically progress to include anemia, metabolic acidosis and uremia. End stage renal disease (ESRD) eventually follows. There are 2 types of MCKD, which are both inherited in an autosomal dominant manner but are caused by mutations in different genes. MCKD 1 is caused by mutations in the MCKD1 gene (which has not yet been identified) and MCKD 2 is caused by mutations in the UMOD gene. The 2 types also differ by MCKD 1 being associated with ESRD at an average age of 62 years, while MCKD 2 is associated with ESRD around 32 years and is more likely to be associated with hyperuricemia and gout. Treatment for MCKD may include correction of water and electrolyte imbalances, and dialysis followed by renal transplantation for end-stage renal failure.

What is (are) Birt-Hogg-Dube syndrome ?

Birt-Hogg-Dube syndrome (BHDS) is a rare, complex, genetic disorder with three main clinical findings: non-cancerous (benign) skin tumors; lung cysts and/or history of pneumothorax (collapsed lung); and various types of renal tumors. Fibrofolliculomas are a type of benign skin tumor specific to BHDS. They typically occur on the face, neck, and upper torso. Most people with BHDS also have multiple cysts in both lungs that can be seen on high-resolution chest CT scan. While these cysts usually do not cause any symptoms, they put people at increased risk for spontaneous pneumothorax. BHDS is caused by mutations in the FLCN gene. The condition is inherited in an autosomal dominant fashion.

What is (are) Tremor ?

Tremors are unintentional trembling or shaking movements in one or more parts of your body. Most tremors occur in the hands. You can also have arm, head, face, vocal cord, trunk, and leg tremors. Tremors are most common in middle-aged and older people, but anyone can have them. The cause of tremors is a problem in the parts of the brain that control muscles in the body or in specific parts of the body, such as the hands. They commonly occur in otherwise healthy people. They may also be caused by problems such as - Parkinson's disease - Dystonia - Multiple sclerosis - Stroke - Traumatic brain injury - Alcohol abuse and withdrawal - Certain medicines Some forms are inherited and run in families. Others have no known cause. There is no cure for most tremors. Treatment to relieve them depends on their cause. In many cases, medicines and sometimes surgical procedures can reduce or stop tremors and improve muscle control. Tremors are not life threatening. However, they can be embarrassing and make it hard to perform daily tasks. NIH: National Institute of Neurological Disorders and Stroke

What is (are) congenital stromal corneal dystrophy ?

Congenital stromal corneal dystrophy is an inherited eye disorder. This condition primarily affects the cornea, which is the clear outer covering of the eye. In people with this condition, the cornea appears cloudy and may have an irregular surface. These corneal changes lead to visual impairment, including blurring, glare, and a loss of sharp vision (reduced visual acuity). Visual impairment is often associated with additional eye abnormalities, including "lazy eye" (amblyopia), eyes that do not look in the same direction (strabismus), involuntary eye movements (nystagmus), and increased sensitivity to light (photophobia).

What is (are) Skin Cancer ?

Key Points - Skin cancer is a disease in which malignant (cancer) cells form in the tissues of the skin. - There are different types of cancer that start in the skin. - Skin color and being exposed to sunlight can increase the risk of nonmelanoma skin cancer and actinic keratosis. - Nonmelanoma skin cancer and actinic keratosis often appear as a change in the skin. - Tests or procedures that examine the skin are used to detect (find) and diagnose nonmelanoma skin cancer and actinic keratosis. - Certain factors affect prognosis (chance of recovery) and treatment options. Skin cancer is a disease in which malignant (cancer) cells form in the tissues of the skin. The skin is the bodys largest organ. It protects against heat, sunlight, injury, and infection. Skin also helps control body temperature and stores water, fat, and vitamin D. The skin has several layers, but the two main layers are the epidermis (upper or outer layer) and the dermis (lower or inner layer). Skin cancer begins in the epidermis, which is made up of three kinds of cells: - Squamous cells: Thin, flat cells that form the top layer of the epidermis. - Basal cells: Round cells under the squamous cells. - Melanocytes: Cells that make melanin and are found in the lower part of the epidermis. Melanin is the pigment that gives skin its natural color. When skin is exposed to the sun, melanocytes make more pigment and cause the skin to darken. Skin cancer can occur anywhere on the body, but it is most common in skin that is often exposed to sunlight, such as the face, neck, hands, and arms. There are different types of cancer that start in the skin. The most common types are basal cell carcinoma and squamous cell carcinoma, which are nonmelanoma skin cancers. Nonmelanoma skin cancers rarely spread to other parts of the body. Melanoma is a much rarer type of skin cancer. It is more likely to invade nearby tissues and spread to other parts of the body. Actinic keratosis is a skin condition that sometimes becomes squamous cell carcinoma. This summary is about nonmelanoma skin cancer and actinic keratosis. See the following PDQ summaries for information on melanoma and other kinds of cancer that affect the skin: - Melanoma Treatment - Mycosis Fungoides and the Szary Syndrome Treatment - Kaposi Sarcoma Treatment - Merkel Cell Carcinoma Treatment - Unusual Cancers of Childhood Treatment - Genetics of Skin Cancer Nonmelanoma skin cancer and actinic keratosis often appear as a change in the skin. Not all changes in the skin are a sign of nonmelanoma skin cancer or actinic keratosis. Check with your doctor if you notice any changes in your skin. Signs of nonmelanoma skin cancer include the following: - A sore that does not heal. - Areas of the skin that are: - Raised, smooth, shiny, and look pearly. - Firm and look like a scar, and may be white, yellow, or waxy. - Raised, and red or reddish-brown. - Scaly, bleeding or crusty.

What is (are) Age-related Macular Degeneration ?

The AREDS formulation is a combination of antioxidants and zinc that is named for a study conducted by The National Eye Institute called the Age-Related Eye Disease Study, or AREDS. This study found that taking a specific high-dose formulation of antioxidants and zinc significantly reduced the risk of advanced AMD and its associated vision loss. Slowing AMD's progression from the intermediate stage to the advanced stage will save many people's vision.

What is (are) Sarcoidosis ?

Sarcoidosis is an inflammatory disease characterized by the development and growth of tiny lumps of cells called granulomas. If these tiny granulomas grow and clump together in an organ, they can affect how the organ works, leading to the symptoms of sarcoidosis. The granulomas can be found in almost any part of the body, but occur more commonly in the lungs, lymph nodes, eyes, skin, and liver. Although no one is sure what causes sarcoidosis, it is thought by most scientists to be a disorder of the immune system. The course of the disease varies from person to person. It often goes away on its own, but in some people symptoms of sarcoidosis may last a lifetime. For those who need treatment, anti-inflammatory medications and immunosuppressants can help.

What is (are) sick sinus syndrome ?

Sick sinus syndrome (also known as sinus node dysfunction) is a group of related heart conditions that can affect how the heart beats. "Sick sinus" refers to the sino-atrial (SA) node, which is an area of specialized cells in the heart that functions as a natural pacemaker. The SA node generates electrical impulses that start each heartbeat. These signals travel from the SA node to the rest of the heart, signaling the heart (cardiac) muscle to contract and pump blood. In people with sick sinus syndrome, the SA node does not function normally. In some cases, it does not produce the right signals to trigger a regular heartbeat. In others, abnormalities disrupt the electrical impulses and prevent them from reaching the rest of the heart. Sick sinus syndrome tends to cause the heartbeat to be too slow (bradycardia), although occasionally the heartbeat is too fast (tachycardia). In some cases, the heartbeat rapidly switches from being too fast to being too slow, a condition known as tachycardia-bradycardia syndrome. Symptoms related to abnormal heartbeats can include dizziness, light-headedness, fainting (syncope), a sensation of fluttering or pounding in the chest (palpitations), and confusion or memory problems. During exercise, many affected individuals experience chest pain, difficulty breathing, or excessive tiredness (fatigue). Once symptoms of sick sinus syndrome appear, they usually worsen with time. However, some people with the condition never experience any related health problems. Sick sinus syndrome occurs most commonly in older adults, although it can be diagnosed in people of any age. The condition increases the risk of several life-threatening problems involving the heart and blood vessels. These include a heart rhythm abnormality called atrial fibrillation, heart failure, cardiac arrest, and stroke.

What is (are) Chondrocalcinosis 2 ?

Chondrocalcinosis 2 is a rare condition characterized by the accumulation of calcium pyrophosphate dihydrate crystals in and around the joints. A buildup of these crystals can lead to progressive (worsening over time) joint damage. Some affected people may not have any signs or symptoms of the condition. Others experience chronic joint pain or sudden, recurrent episodes of pain, stiffness and/or swelling of the joints. Although chondrocalcinosis 2 can affect people of all ages, it is most commonly diagnosed in early adulthood (age 20-40 years). It is caused by changes (mutations) in the ANKH gene and is inherited in an autosomal dominant manner. There is no cure for the condition and treatment is symptomatic.

What is (are) Klippel-Trenaunay syndrome ?

Klippel-Trenaunay syndrome is a condition that affects the development of blood vessels, soft tissues, and bones. The disorder has three characteristic features: a red birthmark called a port-wine stain, abnormal overgrowth of soft tissues and bones, and vein malformations. Most people with Klippel-Trenaunay syndrome are born with a port-wine stain. This type of birthmark is caused by swelling of small blood vessels near the surface of the skin. Port-wine stains are typically flat and can vary from pale pink to deep maroon in color. In people with Klippel-Trenaunay syndrome, the port-wine stain usually covers part of one limb. The affected area may become lighter or darker with age. Occasionally, port-wine stains develop small red blisters that break open and bleed easily. Klippel-Trenaunay syndrome is also associated with overgrowth of bones and soft tissues beginning in infancy. Usually this abnormal growth is limited to one limb, most often one leg. However, overgrowth can also affect the arms or, rarely, the trunk. The abnormal growth can cause pain, a feeling of heaviness, and reduced movement in the affected area. If the overgrowth causes one leg to be longer than the other, it can also lead to problems with walking. Malformations of veins are the third major feature of Klippel-Trenaunay syndrome. These abnormalities include varicose veins, which are swollen and twisted veins near the surface of the skin that often cause pain. Varicose veins usually occur on the sides of the upper legs and calves. Veins deep in the limbs can also be abnormal in people with Klippel-Trenaunay syndrome. Malformations of deep veins increase the risk of a type of clot called a deep vein thrombosis (DVT). If a DVT travels through the bloodstream and lodges in the lungs, it can cause a life-threatening clot known as a pulmonary embolism (PE). Complications of Klippel-Trenaunay syndrome can include a type of skin infection called cellulitis, swelling caused by a buildup of fluid (lymphedema), and internal bleeding from abnormal blood vessels. Less commonly, this condition is also associated with fusion of certain fingers or toes (syndactyly) or the presence of extra digits (polydactyly).

What is (are) Adrenal Gland Cancer ?

Your adrenal, or suprarenal, glands are located on the top of each kidney. These glands produce hormones that you can't live without, including sex hormones and cortisol, which helps you respond to stress and has many other functions. A number of disorders can affect the adrenal glands, including tumors. Tumors can be either benign or malignant. Benign tumors aren't cancer. Malignant ones are. Most adrenal gland tumors are benign. They usually do not cause symptoms and may not require treatment. Malignant adrenal gland cancers are uncommon. Types of tumors include - Adrenocortical carcinoma - cancer in the outer part of the gland - Neuroblastoma, a type of childhood cancer - Pheochromocytoma - a rare tumor that is usually benign Symptoms depend on the type of cancer you have. Treatments may include surgery, chemotherapy, or radiation therapy.

What is (are) Mitochondrial neurogastrointestinal encephalopathy syndrome ?

Mitochondrial neurogastrointestinal encephalopathy (MNGIE) syndrome is a condition that particularly affects the digestive system and nervous system. Signs and symptoms of this condition most often begin by age 20 and worsen with time. Almost all people with MNGIE have gastrointestinal dysmotility, in which the muscles and nerves of the digestive system do not move food through the digestive tract efficiently. Affected individuals also experience peripheral neuropathy, droopy eyelids (ptosis), weakness of the muscles that control eye movement (ophthalmoplegia), and hearing loss. Leukoencephalopathy, which is the deterioration of a type of brain tissue known as white matter, is a hallmark of MNGIE; however it does not usually cause symptoms in people with this disorder. Mutations in the TYMP gene cause MNGIE, and this condition is inherited in an autosomal recessive pattern.

What is (are) Primary Hyperparathyroidism ?

The parathyroid glands are four pea-sized glands located on or near the thyroid gland in the neck. Occasionally, a person is born with one or more of the parathyroid glands in another location. For example, a gland may be embedded in the thyroid, in the thymusan immune system organ located in the chestor elsewhere around this area. In most such cases, however, the parathyroid glands function normally. The parathyroid glands are part of the bodys endocrine system. Endocrine glands produce, store, and release hormones, which travel in the bloodstream to target cells elsewhere in the body and direct the cells activity. Though their names are similar, the thyroid and parathyroid glands are entirely different glands, each producing distinct hormones with specific functions. The parathyroid glands produce PTH, a hormone that helps maintain the correct balance of calcium in the body. PTH regulates the level of calcium in the blood, release of calcium from bone, absorption of calcium in the small intestine, and excretion of calcium in the urine. When the level of calcium in the blood falls too low, normal parathyroid glands release just enough PTH to restore the blood calcium level.

What is (are) Childhood Hodgkin Lymphoma ?

Key Points - Childhood Hodgkin lymphoma is a disease in which malignant (cancer) cells form in the lymph system. - There are two types of childhood Hodgkin lymphoma. - Epstein-Barr virus infection increases the risk of childhood Hodgkin lymphoma. - Signs of childhood Hodgkin lymphoma include swollen lymph nodes, fever, night sweats, and weight loss. - Tests that examine the lymph system are used to detect (find) and diagnose childhood Hodgkin lymphoma. - Certain factors affect prognosis (chance of recovery) and treatment options. Childhood Hodgkin lymphoma is a disease in which malignant (cancer) cells form in the lymph system. Childhood Hodgkin lymphoma is a type of cancer that develops in the lymph system, which is part of the body's immune system. The immune system protects the body from foreign substances, infection, and diseases. The lymph system is made up of the following: - Lymph: Colorless, watery fluid that carries white blood cells called lymphocytes through the lymph system. Lymphocytes protect the body against infections and the growth of tumors. - Lymph vessels: A network of thin tubes that collect lymph from different parts of the body and return it to the bloodstream. - Lymph nodes: Small, bean-shaped structures that filter lymph and store white blood cells that help fight infection and disease. Lymph nodes are located along the network of lymph vessels found throughout the body. Clusters of lymph nodes are found in the neck, underarm, abdomen, pelvis, and groin. - Spleen: An organ that makes lymphocytes, filters the blood, stores blood cells, and destroys old blood cells. The spleen is on the left side of the abdomen near the stomach. - Thymus: An organ in which lymphocytes grow and multiply. The thymus is in the chest behind the breastbone. - Tonsils: Two small masses of lymph tissue at the back of the throat. The tonsils make lymphocytes. - Bone marrow: The soft, spongy tissue in the center of large bones. Bone marrow makes white blood cells, red blood cells, and platelets. Lymph tissue is also found in other parts of the body such as the stomach, thyroid gland, brain, and skin. There are two general types of lymphoma: Hodgkin lymphoma and non-Hodgkin lymphoma. (See the PDQ summary on Childhood Non-Hodgkin Lymphoma Treatment for more information.) Hodgkin lymphoma often occurs in adolescents 15 to 19 years of age. The treatment for children and adolescents is different than treatment for adults. (See the PDQ summary on Adult Hodgkin Lymphoma Treatment for more information.) There are two types of childhood Hodgkin lymphoma. The two types of childhood Hodgkin lymphoma are: - Classical Hodgkin lymphoma. - Nodular lymphocyte-predominant Hodgkin lymphoma. Classical Hodgkin lymphoma is divided into four subtypes, based on how the cancer cells look under a microscope: - Lymphocyte-rich classical Hodgkin lymphoma. - Nodular sclerosis Hodgkin lymphoma. - Mixed cellularity Hodgkin lymphoma. - Lymphocyte-depleted Hodgkin lymphoma.

What is (are) Absence of Tibia ?

Absence of tibia is a rare birth defect that is characterized by deficiency of the tibia (the shinbone) with other bones of the lower leg relatively intact. The condition may affect one or both legs. Some cases are isolated birth defects, while others are associated with a variety of skeletal and other malformations. It can also be a part of a recognized syndrome such as Werner's syndrome, tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome, and CHARGE syndrome. The underlying cause is generally unknown. Although most isolated cases occur sporadically in people with no family history of the condition, absence of the tibia can rarely affect more than one family member. Treatment varies based on the severity of the condition, but generally involves surgery (i.e. amputation or reconstructive surgery with a prosthesis adapted to growth).

Do you have information about Fire Safety

Summary : Preventing fires is an important part of fire safety. In the United States, cooking is the main cause of home fires. Cigarettes are a big risk too - they are the leading cause of fire deaths. Here are some fire prevention tips: - Don't leave the stove or oven unattended when they are on - Don't let children use kitchen appliances unsupervised - Don't smoke in bed - Make sure your electrical appliances and cords are in good condition It is also important to be prepared in case there is a fire. Make sure that you have working smoke detectors on every floor and in every bedroom. You should also have fire extinguishers on every floor and in your kitchen. Make and practice an escape plan in case the main exit is blocked.

What is (are) TK2-related mitochondrial DNA depletion syndrome, myopathic form ?

TK2-related mitochondrial DNA depletion syndrome, myopathic form (TK2-MDS) is an inherited condition that causes progressive muscle weakness (myopathy). The signs and symptoms of TK2-MDS typically begin in early childhood. Development is usually normal early in life, but as muscle weakness progresses, people with TK2-MDS lose motor skills such as standing, walking, eating, and talking. Some affected individuals have increasing weakness in the muscles that control eye movement, leading to droopy eyelids (progressive external ophthalmoplegia). Most often in TK2-MDS, the muscles are the only affected tissues; however, the liver may be enlarged (hepatomegaly), seizures can occur, and hearing loss caused by nerve damage in the inner ear (sensorineural hearing loss) may be present. Intelligence is usually not affected. As the disorder worsens, the muscles that control breathing become weakened and affected individuals frequently have to rely on mechanical ventilation. Respiratory failure is the most common cause of death in people with TK2-MDS, often occurring in childhood. Rarely, the disorder progresses slowly and affected individuals survive into adolescence or adulthood.

What is (are) Osteonecrosis ?

Osteonecrosis is a disease caused by reduced blood flow to bones in the joints. In people with healthy bones, new bone is always replacing old bone. In osteonecrosis, the lack of blood causes the bone to break down faster than the body can make enough new bone. The bone starts to die and may break down. You can have osteonecrosis in one or several bones. It is most common in the upper leg. Other common sites are your upper arm and your knees, shoulders and ankles. The disease can affect men and women of any age, but it usually strikes in your thirties, forties or fifties. At first, you might not have any symptoms. As the disease gets worse, you will probably have joint pain that becomes more severe. You may not be able to bend or move the affected joint very well. No one is sure what causes the disease. Risk factors include - Long-term steroid treatment - Alcohol abuse - Joint injuries - Having certain diseases, including arthritis and cancer Doctors use imaging tests and other tests to diagnose osteonecrosis. Treatments include medicines, using crutches, limiting activities that put weight on the affected joints, electrical stimulation and surgery. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases

What is (are) Reticulohistiocytoma ?

Reticulohistiocytoma (RH) is a rare benign lesion of the soft tissue. It belongs to a group of disorders called non-Langerhans cell histiocytosis and is a type of reticulohistiocytosis, all of which are types of histiocytosis. Histiocytosis is a condition in which there is rapid production (proliferation) of histiocytes (immune cells) in the skin or soft tissues. The stimulus that causes the immune system to react in RH is currently not well understood. RH present as a yellow to reddish-brown smooth surfaced, firm nodule or lesion on the trunk and/or extremities of the body. Historically, RH has been found in young adults, with a slightly higher incidence in males. RH typically resolve spontaneously over a period of months to years, are not associated with systemic disease, and do not otherwise affect health. Treatment involves surgical removal of the lesion.

What is (are) Noonan syndrome 2 ?

Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, skeletal malformations, and developmental delay. Noonan syndrome may be caused by mutations in any one of several genes including the PTPN11, KRAS, RAF1, SOS1, NRAS and BRAF genes. It is sometimes referred to as a specific subtype based on the responsible gene in an affected person. Noonan syndrome is typically inherited in an autosomal dominant manner but many cases are due to a new mutation and are not inherited from an affected parent.

What is (are) Lymphomatoid papulosis ?

Lymphomatoid papulosis is a skin disorder that is characterized by crops of self healing skin lesions that look cancerous under the microscope but are actually benign (non-cancerous). Lesions contain unusual cells that are similar to those found in some lymphomas (cancers of the lymphatic system).

What is (are) Liver (Hepatocellular) Cancer ?

Key Points - Liver cancer is a disease in which malignant (cancer) cells form in the tissues of the liver. - Liver cancer is less common in the United States than in other parts of the world. - Having hepatitis or cirrhosis can increase the risk of developing liver cancer. Liver cancer is a disease in which malignant (cancer) cells form in the tissues of the liver. The liver is one of the largest organs in the body. It has four lobes and fills the upper right side of the abdomen inside the rib cage. Three of the many important functions of the liver are: - To filter harmful substances from the blood so they can be passed from the body in stools and urine. - To make bile to help digest fats from food. - To store glycogen (sugar), which the body uses for energy. See the following PDQ summaries for more information about liver (hepatocellular) cancer: - Liver (Hepatocellular) Cancer Prevention - Adult Primary Liver Cancer Treatment - Childhood Liver Cancer Treatment Liver cancer is less common in the United States than in other parts of the world. Liver cancer is uncommon in the United States, but is the fourth most common cancer in the world. In the United States, men, especially Chinese American men, have a greater risk of developing liver cancer.

What is (are) Duane syndrome type 1 ?

Duane syndrome type 1 is the most common type of Duane syndrome, an eye movement disorder that is present at birth. People with Duane syndrome have restricted ability to move the affected eye(s) outward toward the ear (abduction) and/or inward toward the nose (adduction). The different types are distinguished by the eye movements that are most restricted. Duane syndrome type 1 is characterized by absent to very restricted abduction and normal to mildly restricted adduction. The eye opening (palpebral fissure) narrows and the eyeball retracts into the orbit with adduction. With abduction, the reverse occurs. One or both eyes may be affected. The majority of cases are sporadic (not inherited), while about 10% are familial. 70% of affected people do not have any other abnormalities at birth (isolated Duane syndrome).

Do you have information about Veterans and Military Health

Summary : Military service members and veterans face some different health issues than civilians. During combat, the main health concerns are life-threatening injuries. These include - Shrapnel and gunshot wounds - Lost limbs - Head and brain injuries There may also be a risk of health problems from exposure to environmental hazards, such as contaminated water, chemicals, and infections. Being in combat and being separated from your family can be stressful. The stress can put service members and veterans at risk for mental health problems. These include anxiety, post-traumatic stress disorder, depression and substance abuse. Suicide can also be a concern.

What is (are) GM3 synthase deficiency ?

GM3 synthase deficiency is characterized by recurrent seizures (epilepsy) and problems with brain development. Within the first few weeks after birth, affected infants become irritable and develop feeding difficulties and vomiting that prevent them from growing and gaining weight at the usual rate. Seizures begin within the first year of life and worsen over time. Multiple types of seizures are possible, including generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Some affected children also experience prolonged episodes of seizure activity called nonconvulsive status epilepticus. The seizures associated with GM3 synthase deficiency tend to be resistant (refractory) to treatment with antiseizure medications. GM3 synthase deficiency profoundly disrupts brain development. Most affected children have severe intellectual disability and do not develop skills such as reaching for objects, speaking, sitting without support, or walking. Some have involuntary twisting or jerking movements of the arms that are described as choreoathetoid. Although affected infants can likely see and hear at birth, vision and hearing become impaired as the disease worsens. It is unknown how long people with GM3 synthase deficiency usually survive. Some affected individuals have changes in skin coloring (pigmentation), including dark freckle-like spots on the arms and legs and light patches on the arms, legs, and face. These changes appear in childhood and may become more or less apparent over time. The skin changes do not cause any symptoms, but they can help doctors diagnose GM3 synthase deficiency in children who also have seizures and delayed development.

What is (are) progressive external ophthalmoplegia ?

Progressive external ophthalmoplegia is a condition characterized by weakness of the eye muscles. The condition typically appears in adults between ages 18 and 40. The most common signs and symptoms of progressive external ophthalmoplegia are drooping eyelids (ptosis), which can affect one or both eyelids, and weakness or paralysis of the muscles that move the eye (ophthalmoplegia). Affected individuals may also have general weakness of the skeletal muscles (myopathy), particularly in the neck, arms, or legs. The weakness may be especially noticeable during exercise (exercise intolerance). Muscle weakness may also cause difficulty swallowing (dysphagia). When the muscle cells of affected individuals are stained and viewed under a microscope, these cells usually appear abnormal. These abnormal muscle cells contain an excess of structures called mitochondria and are known as ragged-red fibers. Additionally, a close study of muscle cells may reveal abnormalities in a type of DNA found in mitochondria called mitochondrial DNA (mtDNA). Affected individuals often have large deletions of genetic material from mtDNA in muscle tissue. Although muscle weakness is the primary symptom of progressive external ophthalmoplegia, this condition can be accompanied by other signs and symptoms. In these instances, the condition is referred to as progressive external ophthalmoplegia plus (PEO+). Additional signs and symptoms can include hearing loss caused by nerve damage in the inner ear (sensorineural hearing loss), weakness and loss of sensation in the limbs due to nerve damage (neuropathy), impaired muscle coordination (ataxia), a pattern of movement abnormalities known as parkinsonism, or depression. Progressive external ophthalmoplegia is part of a spectrum of disorders with overlapping signs and symptoms. Similar disorders include other conditions caused by POLG gene mutations, such as ataxia neuropathy spectrum, as well as other mtDNA deletion disorders, such as Kearns-Sayre syndrome. Like progressive external ophthalmoplegia, the other conditions in this spectrum can involve weakness of the eye muscles. However, these conditions have many additional features not shared by most people with progressive external ophthalmoplegia.

What is (are) Friedreich's Ataxia ?

Friedreich's ataxia is an inherited disease that damages your nervous system. The damage affects your spinal cord and the nerves that control muscle movement in your arms and legs. Symptoms usually begin between the ages of 5 and 15. The main symptom is ataxia, which means trouble coordinating movements. Specific symptoms include - Difficulty walking - Muscle weakness - Speech problems - Involuntary eye movements - Scoliosis (curving of the spine to one side) - Heart palpitations, from the heart disease which can happen along with Friedreich's ataxia People with Friedreich's ataxia usually need a wheelchair 15 to 20 years after symptoms first appear. In severe cases, people become incapacitated. There is no cure. You can treat symptoms with medicines, braces, surgery, and physical therapy. NIH: National Institute of Neurological Disorders and Stroke

What is (are) Metachromatic leukodystrophy ?

Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of white matter of the brain, which consists of nerve fibers covered by myelin. Affected individuals experience progressive deterioration of intellectual functions and motor skills, such as the ability to walk. They also develop loss of sensation in the extremities, incontinence, seizures, paralysis, inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the ARSA and PSAP genes.

What is (are) multiple endocrine neoplasia ?

Multiple endocrine neoplasia is a group of disorders that affect the body's network of hormone-producing glands (the endocrine system). Hormones are chemical messengers that travel through the bloodstream and regulate the function of cells and tissues throughout the body. Multiple endocrine neoplasia typically involves tumors (neoplasia) in at least two endocrine glands; tumors can also develop in other organs and tissues. These growths can be noncancerous (benign) or cancerous (malignant). If the tumors become cancerous, the condition can be life-threatening. The major forms of multiple endocrine neoplasia are called type 1, type 2, and type 4. These types are distinguished by the genes involved, the types of hormones made, and the characteristic signs and symptoms. Many different types of tumors are associated with multiple endocrine neoplasia. Type 1 frequently involves tumors of the parathyroid glands, the pituitary gland, and the pancreas. Tumors in these glands can lead to the overproduction of hormones. The most common sign of multiple endocrine neoplasia type 1 is overactivity of the parathyroid glands (hyperparathyroidism). Hyperparathyroidism disrupts the normal balance of calcium in the blood, which can lead to kidney stones, thinning of bones, nausea and vomiting, high blood pressure (hypertension), weakness, and fatigue. The most common sign of multiple endocrine neoplasia type 2 is a form of thyroid cancer called medullary thyroid carcinoma. Some people with this disorder also develop a pheochromocytoma, which is an adrenal gland tumor that can cause dangerously high blood pressure. Multiple endocrine neoplasia type 2 is divided into three subtypes: type 2A, type 2B (formerly called type 3), and familial medullary thyroid carcinoma (FMTC). These subtypes differ in their characteristic signs and symptoms and risk of specific tumors; for example, hyperparathyroidism occurs only in type 2A, and medullary thyroid carcinoma is the only feature of FMTC. The signs and symptoms of multiple endocrine neoplasia type 2 are relatively consistent within any one family. Multiple endocrine neoplasia type 4 appears to have signs and symptoms similar to those of type 1, although it is caused by mutations in a different gene. Hyperparathyroidism is the most common feature, followed by tumors of the pituitary gland, additional endocrine glands, and other organs.

What is (are) Goldenhar disease ?

Goldenhar disease is a condition that is present at birth and mainly affects the development of the eye, ear and spine. Affected individuals commonly have a partially formed ear (microtia) or totally absent ear (anotia), noncancerous (benign) growths of the eye (ocular dermoid cysts), and spinal abnormalities. Goldenhar disease may also affect the facial structure, heart, lungs, kidneys, and central nervous system. The underlying cause of the condition remains unknown.

What is (are) Atherosclerosis ?

Espaol Atherosclerosis is a disease in which plaque builds up inside your arteries. Arteries are blood vessels that carry oxygen-rich blood to your heart and other parts of your body. Plaque is made up of fat, cholesterol, calcium, and other substances found in the blood. Over time, plaque hardens and narrows your arteries. This limits the flow of oxygen-rich blood to your organs and other parts of your body. Atherosclerosis can lead to serious problems, including heart attack, stroke, or even death. Atherosclerosis Atherosclerosis-Related Diseases Atherosclerosis can affect any artery in the body, including arteries in the heart, brain, arms, legs, pelvis, and kidneys. As a result, different diseases may develop based on which arteries are affected. Coronary Heart Disease Coronary heart disease (CHD), also called coronary artery disease, occurs when plaque builds up in the coronary arteries. These arteries supply oxygen-rich blood to your heart. Plaque narrows the coronary arteries and reduces blood flow to your heart muscle. Plaque buildup also makes it more likely that blood clots will form in your arteries. Blood clots can partially or completely block blood flow. If blood flow to your heart muscle is reduced or blocked, you may have angina (chest pain or discomfort) or a heart attack. Plaque also can form in the heart's smallest arteries. This disease is called coronary microvascular disease (MVD). In coronary MVD, plaque doesn't cause blockages in the arteries as it does in CHD. Carotid Artery Disease Carotid (ka-ROT-id) artery disease occurs if plaque builds up in the arteries on each side of your neck (the carotid arteries). These arteries supply oxygen-rich blood to your brain. If blood flow to your brain is reduced or blocked, you may have a stroke. Peripheral Artery Disease Peripheral artery disease (P.A.D.) occurs if plaque builds up in the major arteries that supply oxygen-rich blood to your legs, arms, and pelvis. If blood flow to these parts of your body is reduced or blocked, you may have numbness, pain, and, sometimes, dangerous infections. Chronic Kidney Disease Chronic kidney disease can occur if plaque builds up in the renal arteries. These arteries supply oxygen-rich blood to your kidneys. Over time, chronic kidney disease causes a slow loss of kidney function. The main function of the kidneys is to remove waste and extra water from the body. Overview The cause of atherosclerosis isn't known. However, certain traits, conditions, or habits may raise your risk for the disease. These conditions are known as risk factors. You can control some risk factors, such as lack of physical activity, smoking, and an unhealthy diet. Others you can't control, such as age and a family history of heart disease. Some people who have atherosclerosis have no signs or symptoms. They may not be diagnosed until after a heart attack or stroke. The main treatment for atherosclerosis is lifestyle changes. You also may need medicines and medical procedures. These treatments, along with ongoing medical care, can help you live a healthier life. Outlook Improved treatments have reduced the number of deaths from atherosclerosis-related diseases. These treatments also have improved the quality of life for people who have these diseases. However, atherosclerosis remains a common health problem. You may be able to prevent or delay atherosclerosis and the diseases it can cause. Making lifestyle changes and getting ongoing care can help you avoid the problems of atherosclerosis and live a long, healthy life.

Do you have information about Asbestos

Summary : Asbestos is the name of a group of minerals with long, thin fibers. It was once used widely as insulation. It also occurs in the environment. Asbestos fibers are so small you can't see them. If you disturb asbestos, the fibers can float in the air. This makes them easy to inhale, and some may become lodged in the lungs. If you breathe in high levels of asbestos over a long period of time, the fibers can build up in the lungs. This causes scarring and inflammation, and can affect breathing. Eventually it can lead to diseases such as - Asbestosis, or scarring of the lungs that makes it hard to breathe - Mesothelioma, a rare cancer that affects the lining of the lungs or abdomen - Lung cancer Lung diseases associated with asbestos usually develop over many years. People who become ill from asbestos are usually exposed on the job over long periods of time. Smoking cigarettes increases the risk. Agency for Toxic Substances and Disease Registry

What is (are) systemic lupus erythematosus ?

Systemic lupus erythematosus (SLE) is a chronic disease that causes inflammation in connective tissues, such as cartilage and the lining of blood vessels, which provide strength and flexibility to structures throughout the body. The signs and symptoms of SLE vary among affected individuals, and can involve many organs and systems, including the skin, joints, kidneys, lungs, central nervous system, and blood-forming (hematopoietic) system. SLE is one of a large group of conditions called autoimmune disorders that occur when the immune system attacks the body's own tissues and organs. SLE may first appear as extreme tiredness (fatigue), a vague feeling of discomfort or illness (malaise), fever, loss of appetite, and weight loss. Most affected individuals also have joint pain, typically affecting the same joints on both sides of the body, and muscle pain and weakness. Skin problems are common in SLE. A characteristic feature is a flat red rash across the cheeks and bridge of the nose, called a "butterfly rash" because of its shape. The rash, which generally does not hurt or itch, often appears or becomes more pronounced when exposed to sunlight. Other skin problems that may occur in SLE include calcium deposits under the skin (calcinosis), damaged blood vessels (vasculitis) in the skin, and tiny red spots called petechiae. Petechiae are caused by a shortage of blood clotting cells called platelets that leads to bleeding under the skin. Affected individuals may also have hair loss (alopecia) and open sores (ulcerations) in the moist lining (mucosae) of the mouth, nose, or, less commonly, the genitals. About a third of people with SLE develop kidney disease (nephritis). Heart problems may also occur in SLE, including inflammation of the sac-like membrane around the heart (pericarditis) and abnormalities of the heart valves, which control blood flow in the heart. Heart disease caused by fatty buildup in the blood vessels (atherosclerosis), which is very common in the general population, is even more common in people with SLE. The inflammation characteristic of SLE can also damage the nervous system, and may result in abnormal sensation and weakness in the limbs (peripheral neuropathy); seizures; stroke; and difficulty processing, learning, and remembering information (cognitive impairment). Anxiety and depression are also common in SLE. People with SLE have episodes in which the condition gets worse (exacerbations) and other times when it gets better (remissions). Overall, SLE gradually gets worse over time, and damage to the major organs of the body can be life-threatening.

What is (are) Chandler's syndrome ?

Chandler's syndrome is a rare eye disorder in which the single layer of cells lining the interior of the cornea proliferates, causing changes within the iris, corneal swelling, and unusually high pressure in the eye (glaucoma). This condition is one of three syndromes, along with progressive iris atrophy and Cogan-Reese syndrome, that make up the iridocorneal endothelial (ICE) syndrome. In most cases, only one eye is affected. Symptoms may include reduced vision and pain. Chandler's syndrome more often affects females and usually presents sometime during middle age. The cause of this disease is unknown.

What is (are) Hypolipoproteinemia ?

Hypolipoproteinemia refers to unusually low levels of fats (lipids) in the blood. Low lipid levels may be caused by rare genetic conditions, or be a sign of another disorder such as overactive thyroid, anemia, undernutrition, cancer, chronic infection, or impaired absorption of foods from the digestive tract. Associated genetic disorders includes abetalipoproteinemia, hypobetalipoproteinemia, and chylomicron retention disease. Symptoms of the genetic or familial form of hypolipoproteinemia varies. In hypobetalipoproteinemia the low density lipoprotein (LDL) cholesterol levels are very low, yet people with this syndrome typically have no symptoms nor require treatment. Other forms result in absent or near absent LDL levels and can cause serious symptoms in infancy and early childhood.

What is (are) Overactive Bladder ?

Overactive bladder is a condition in which the bladder squeezes urine out at the wrong time. You may have overactive bladder if you have two or more of these symptoms: - You urinate eight or more times a day or two or more times at night - You have the sudden, strong need to urinate immediately - You leak urine after a sudden, strong urge to urinate You also may have incontinence, a loss of bladder control. Nerve problems, too much fluid, or too much caffeine can cause it. Often the cause is unknown. Your doctor may prescribe a medicine that can calm muscles and nerves. The medicine may come as a pill, a liquid, or a patch. The medicines can cause your eyes to become dry. They can also cause dry mouth and constipation. To deal with these effects, use eye drops to keep your eyes moist, chew sugarless gum or suck on sugarless hard candy if dry mouth bothers you, and take small sips of water throughout the day. NIH: National Institute of Diabetes and Digestive and Kidney Diseases

What is (are) Atherosclerosis ?

Atherosclerosis is a disease in which plaque builds up inside your arteries. Plaque is a sticky substance made up of fat, cholesterol, calcium, and other substances found in the blood. Over time, plaque hardens and narrows your arteries. That limits the flow of oxygen-rich blood to your body. Atherosclerosis can lead to serious problems, including - Coronary artery disease. These arteries supply blood to your heart. When they are blocked, you can suffer angina or a heart attack. - Carotid artery disease. These arteries supply blood to your brain. When they are blocked you can suffer a stroke. - Peripheral arterial disease. These arteries are in your arms, legs and pelvis. When they are blocked, you can suffer from numbness, pain and sometimes infections. Atherosclerosis usually doesn't cause symptoms until it severely narrows or totally blocks an artery. Many people don't know they have it until they have a medical emergency. A physical exam, imaging, and other diagnostic tests can tell if you have it. Medicines can slow the progress of plaque buildup. Your doctor may also recommend procedures such as angioplasty to open the arteries, or surgery on the coronary or carotid arteries. Lifestyle changes can also help. These include following a healthy diet, getting regular exercise, maintaining a healthy weight, quitting smoking, and managing stress. NIH: National Heart, Lung, and Blood Institute

What is (are) lysinuric protein intolerance ?

Lysinuric protein intolerance is a disorder caused by the body's inability to digest and use certain protein building blocks (amino acids), namely lysine, arginine, and ornithine. Because the body cannot effectively break down these amino acids, which are found in many protein-rich foods, nausea and vomiting are typically experienced after ingesting protein. People with lysinuric protein intolerance have features associated with protein intolerance, including an enlarged liver and spleen (hepatosplenomegaly), short stature, muscle weakness, impaired immune function, and progressively brittle bones that are prone to fracture (osteoporosis). A lung disorder called pulmonary alveolar proteinosis may also develop. This disorder is characterized by protein deposits in the lungs, which interfere with lung function and can be life-threatening. An accumulation of amino acids in the kidneys can cause end-stage renal disease (ESRD) in which the kidneys become unable to filter fluids and waste products from the body effectively. A lack of certain amino acids can cause elevated levels of ammonia in the blood. If ammonia levels are too high for too long, they can cause coma and intellectual disability. The signs and symptoms of lysinuric protein intolerance typically appear after infants are weaned and receive greater amounts of protein from solid foods.

What is (are) ataxia with oculomotor apraxia ?

Ataxia with oculomotor apraxia is a condition characterized by progressive problems with movement. The hallmark of this condition is difficulty coordinating movements (ataxia), which is often the first symptom. Most affected people also have oculomotor apraxia, which makes it difficult to move their eyes side-to-side. People with oculomotor apraxia have to turn their head to see things in their side (peripheral) vision. There are multiple types of ataxia with oculomotor apraxia. The types are very similar but are caused by mutations in different genes. The two most common types (types 1 and 2) share features, in addition to ataxia and oculomotor apraxia, that include involuntary jerking movements (chorea), muscle twitches (myoclonus), and disturbances in nerve function (neuropathy). In type 1, ataxia beings around age 4; in type 2, ataxia begins around age 15. Chorea and myoclonus tend to disappear gradually in type 1; these movement problems persist throughout life in type 2. Individuals with type 1 often develop wasting (atrophy) in their hands and feet, which further impairs movement. Nearly all individuals with ataxia with oculomotor apraxia develop neuropathy, which leads to absent reflexes and weakness. Neuropathy causes many individuals with this condition to require wheelchair assistance, typically 10 to 15 years after the start of movement problems. Intelligence is usually not affected by this condition, but some people have intellectual disability. People with ataxia with oculomotor apraxia type 1 tend to have decreased amounts of a protein called albumin, which transports molecules in the blood. This decrease in albumin likely causes an increase in the amount of cholesterol circulating in the bloodstream. Increased cholesterol levels may raise a person's risk of developing heart disease. People with ataxia with oculomotor apraxia type 2 have increased blood cholesterol, but they have normal albumin levels. Individuals with type 2 tend to have high amounts of a protein called alpha-fetoprotein (AFP) in their blood. (An increase in the level of this protein is normally seen in the bloodstream of pregnant women.) Affected individuals may also have high amounts of a protein called creatine phosphokinase (CPK) in their blood. This protein is found mainly in muscle tissue. The effect of abnormally high levels of AFP or CPK in people with ataxia with oculomotor apraxia type 2 is unknown.

What is (are) Norrie disease ?

Norrie disease is an inherited eye disorder that leads to blindness in male infants at birth or soon after birth. Additional symptoms may occur in some cases, although this varies even among individuals in the same family. Most affected individuals develop sensorineural hearing loss and many exhibit cognitive abnormalities such as developmental delays, behavioral issues, or psychotic-like features. Norrie disease is caused by mutations in the NDP gene. It is inherited in an X-linked recessive pattern. Treatment is directed toward the specific symptoms present in each individual. The coordinated efforts of a team of specialists, including pediatricians, ophthalmologists, and audiologists may be needed. Early intervention and special education services are important to ensure that children with Norrie disease reach their full potential.

What is (are) Hydrocephalus ?

Hydrocephalus is a condition in which the primary characteristic is excessive accumulation of cerebrospinal fluid (CSF) -- the clear fluid that surrounds the brain and spinal cord. This excessive accumulation results in an abnormal dilation of the spaces in the brain called ventricles. This dilation causes potentially harmful pressure on the tissues of the brain. Hydrocephalus may be congenital or acquired. Congenital hydrocephalus is present at birth and may be caused by genetic abnormalities or developmental disorders such as spina bifida and encephalocele. Acquired hydrocephalus develops at the time of birth or at some point afterward and can affect individuals of all ages. For example, hydrocephalus ex-vacuo occurs when there is damage to the brain caused by stroke or traumatic injury. Normal pressure hydrocephalus occurs most often among the elderly. It may result from a subarachnoid hemorrhage, head trauma, infection, tumor, or complications of surgery, although many people develop normal pressure hydrocephalus without an obvious cause. Symptoms of hydrocephalus vary with age, disease progression, and individual differences in tolerance to CSF. In infancy, the most obvious indication of hydrocephalus is often the rapid increase in head circumference or an unusually large head size. In older children and adults, symptoms may include headache followed by vomiting, nausea, papilledema (swelling of the optic disk, which is part of the optic nerve), downward deviation of the eyes (called "sunsetting"), problems with balance, poor coordination, gait disturbance, urinary incontinence, slowing or loss of development (in children), lethargy, drowsiness, irritability, or other changes in personality or cognition, including memory loss. Hydrocephalus is diagnosed through clinical neurological evaluation and by using cranial imaging techniques such as ultrasonography, computer tomography (CT), magnetic resonance imaging (MRI), or pressure-monitoring techniques.

What is (are) congenital insensitivity to pain ?

Congenital insensitivity to pain is a condition that inhibits the ability to perceive physical pain. From birth, affected individuals never feel pain in any part of their body when injured. People with this condition can feel the difference between sharp and dull and hot and cold, but cannot sense, for example, that a hot beverage is burning their tongue. This lack of pain awareness often leads to an accumulation of wounds, bruises, broken bones, and other health issues that may go undetected. Young children with congenital insensitivity to pain may have mouth or finger wounds due to repeated self-biting and may also experience multiple burn-related injuries. These repeated injuries often lead to a reduced life expectancy in people with congenital insensitivity to pain. Many people with congenital insensitivity to pain also have a complete loss of the sense of smell (anosmia). Congenital insensitivity to pain is considered a form of peripheral neuropathy because it affects the peripheral nervous system, which connects the brain and spinal cord to muscles and to cells that detect sensations such as touch, smell, and pain.

What is (are) Diabetic Neuropathies: The Nerve Damage of Diabetes ?

Peripheral neuropathy, also called distal symmetric neuropathy or sensorimotor neuropathy, is nerve damage in the arms and legs. Feet and legs are likely to be affected before hands and arms. Many people with diabetes have signs of neuropathy that a doctor could note but feel no symptoms themselves. Symptoms of peripheral neuropathy may include - numbness or insensitivity to pain or temperature - a tingling, burning, or prickling sensation - sharp pains or cramps - extreme sensitivity to touch, even light touch - loss of balance and coordination These symptoms are often worse at night. Peripheral neuropathy may also cause muscle weakness and loss of reflexes, especially at the ankle, leading to changes in the way a person walks. Foot deformities, such as hammertoes and the collapse of the midfoot, may occur. Blisters and sores may appear on numb areas of the foot because pressure or injury goes unnoticed. If an infection occurs and is not treated promptly, the infection may spread to the bone, and the foot may then have to be amputated. Many amputations are preventable if minor problems are caught and treated in time.

What is (are) Weissenbacher-Zweymller syndrome ?

Weissenbacher-Zweymller syndrome is a condition that affects bone growth. It is characterized by skeletal abnormalities, hearing loss, and distinctive facial features. This condition has features that are similar to those of another skeletal disorder, otospondylomegaepiphyseal dysplasia (OSMED). Infants born with Weissenbacher-Zweymller syndrome are smaller than average because the bones in their arms and legs are unusually short. The thigh and upper arm bones are shaped like dumbbells, and the bones of the spine (vertebrae) may also be abnormally shaped. High-tone hearing loss occurs in some cases. Distinctive facial features include wide-set protruding eyes, a small, upturned nose with a flat bridge, and a small lower jaw. Some affected infants are born with an opening in the roof of the mouth (a cleft palate). The skeletal features of Weissenbacher-Zweymller syndrome tend to diminish during childhood. Most adults with this condition are not unusually short, but do still retain the other features of Weissenbacher-Zweymller syndrome.

What is (are) Niemann-Pick Disease ?

Niemann-Pick disease (NP) refers to a group of inherited metabolic disorders known as lipid storage diseases. Lipids (fatty materials such as waxes, fatty acids, oils, and cholesterol) and proteins are usually broken down into smaller components to provide energy for the body. In Niemann-Pick disease, harmful quantities of lipids accumulate in the brain, spleen, liver, lungs, and bone marrow. Neurological symptoms may include ataxia (lack of muscle control during voluntary movements such as walking), loss of muscle tone, brain degeneration, increased sensitivity to touch, spasticity (stiff muscles and awkward movement), and slurred speech. Other symptoms may include feeding and swallowing difficulties, eye paralysis, learning problems, and an enlarged liver and spleen. There may be clouding of the cornea and a characteristic cherry-red halo develops around the center of the retina. The disease has three categories. Type A, the most severe form, occurs in early infancy and is seen primarily in Jewish families. It is characterized by progressive weakness, an enlarged liver and spleen, swollen lymph nodes, and profound brain damage by six months of age. Children with this type rarely live beyond 18 months. Type B usually occurs in the pre-teen years, with symptoms that include ataxia and peripheral neuropathy. The brain is generally not affected. Other symptoms include enlarged liver and spleen, and pulmonary difficulties. In types A and B, insufficient activity of an enzyme called sphingomyelinase causes the build up of toxic amounts of sphingomyelin, a fatty substance present in every cell of the body. Type C may appear early in life or develop in the teen or adult years. It is caused by a lack of the NPC1 or NPC2 proteins. Affected individuals may have extensive brain damage that can cause an inability to look up and down, difficulty in walking and swallowing, and progressive loss of vision and hearing. There may be moderate enlargement of the spleen and liver. Individuals wit Type C who share a common ancestral background in Nova Scotia were previously referred to as Type D.

Do you have information about Palliative Care

Summary : Palliative care is treatment of the discomfort, symptoms, and stress of serious illness. It provides relief from distressing symptoms including - Pain - Shortness of breath - Fatigue - Constipation - Nausea - Loss of appetite - Problems with sleep It can also help you deal with the side effects of the medical treatments you're receiving. Hospice care, care at the end of life, always includes palliative care. But you may receive palliative care at any stage of an illness. The goal is to make you comfortable and improve your quality of life. NIH: National Institute of Nursing Research

What is (are) Wilson Disease ?

The liver is the bodys largest internal organ. The liver is called the bodys metabolic factory because of the important role it plays in metabolismthe way cells change food into energy after food is digested and absorbed into the blood. The liver has many important functions, including - taking up, storing, and processing nutrients from foodincluding fat, sugar, and proteinand delivering them to the rest of the body when needed. - making new proteins, such as clotting factors and immune factors. - producing bile. In addition to carrying toxins and waste products out of the body, bile helps the body digest fats and the fat-soluble vitamins A, D, E, and K. - removing waste products the kidneys cannot remove, such as fats, cholesterol, toxins, and medications. A healthy liver is necessary for survival. The liver can regenerate most of its own cells when they become damaged. However, if injury to the liver is too severe or long lasting, regeneration is incomplete and the liver creates scar tissue.

What is (are) Waardenburg syndrome type 2 ?

Waardenburg syndrome type 2 is an inherited condition that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. About 50 percent of those with Waardenburg syndrome type 2 have a hearing impairment or are deaf. Type 2 is one the most common forms of Waardenburg syndrome, along with type 1. Waardenburg syndrome type 2 may be caused by mutations in the MITF and SNAI2 genes. This condition is usually inherited in an autosomal dominant fashion, but can sometimes be inherited as an autosomal recessive trait.

What is (are) What I need to know about Bladder Control for Women ?

Talking about bladder control problems is not easy for some people. You may feel embarrassed to tell your doctor. But talking about the problem is the first step in finding an answer. Also, you can be sure your doctor has heard it all before. You will not shock or embarrass your doctor or nurse. Medical History You can prepare for your visit to the doctor's office by gathering the information your doctor will need to understand your problem. Make a list of the medicines you are taking. Include prescription medicines and those you buy over the counter, like aspirin or antacid. List the fluids you drink regularly, including sodas, coffee, tea, and alcohol. Tell the doctor how much of each drink you have in an average day. Finding a Doctor You will need to find a doctor who is skilled in helping women with urine leakage. If your primary doctor shrugs off your problem as normal aging, for example, ask for a referral to a specialist-a urogynecologist or a urologist who specializes in treating female urinary problems. You may need to be persistent, or you may need to look to organizations to help locate a doctor in your area. See For More Information for a list of organizations. Make a note of any recent surgeries or illnesses you have had. Let the doctor know how many children you have had. These events may or may not be related to your bladder control problem. Finally, keep track of the times when you have urine leakage. Note what you were doing at the time. Were you coughing, laughing, sneezing, or exercising? Did you have an uncontrollable urge to urinate when you heard running water? You can use What Your Doctor Needs to Know (Item A) and Your Daily Bladder Diary (Item B) to prepare for your appointment. Physical Exam The doctor will give you a physical exam to look for any health issues that may be causing your bladder control problem. Checking your reflexes can show possible nerve damage. You will give a urine sample so the doctor can check for a urinary tract infection. For women, the exam may include a pelvic exam. Tests may also include taking an ultrasound picture of your bladder. Or the doctor may examine the inside of your bladder using a cystoscope, a long, thin tube that slides up into the bladder through the urethra. Bladder Function Tests Any medical test can be uncomfortable. Bladder testing may sound embarrassing, but the health professionals who perform the tests will try to make you feel comfortable and give you as much privacy as possible.

What is (are) Multifocal motor neuropathy ?

Multifocal motor neuropathy (MMN) is a rare neuropathy characterized by progressive, asymmetric muscle weakness and atrophy (wasting). Signs and symptoms include weakness in the hands and lower arms; cramping; involuntary contractions or twitching; and atrophy of affected muscles. MMN is thought to be due to an abnormal immune response, but the underlying cause is not clear. Most people treated with intravenous immune globulin (IVIG) have rapid improvement in weakness, but maintenance IVIG is usually required for sustained improvement.

What is (are) Cushing's Syndrome ?

Cushing's syndrome, also called hypercortisolism, is a rare endocrine disorder caused by chronic exposure of the body's tissues to excess levels of cortisol - a hormone naturally produced by the adrenal gland. Exposure to too much cortisol can occur from long-term use of synthetic glucocorticoid hormones to treat inflammatory illnesses. Pituitary adenomas (benign tumors of the pituitary gland) that secrete increased amounts of ACTH (adrenocorticotropic hormone, a substance that controls the release of cortisol) can also spur overproduction of cortisol. Tumors of the adrenal gland and ectopic ACTH syndrome (a condition in which ACTH is produced by various types of potentially malignant tumors that occur in different parts of the body) can cause similar problems with cortisol balance. Common symptoms of Cushing's syndrome include upper body obesity, severe fatigue and muscle weakness, high blood pressure, backache, elevated blood sugar, easy bruising, and bluish-red stretch marks on the skin. In women, there may be increased growth of facial and body hair, and menstrual periods may become irregular or stop completely. Neurological symptoms include difficulties with memory and neuromuscular disorders.

What is (are) Thyroid Diseases ?

Your thyroid is a butterfly-shaped gland in your neck, just above your collarbone. It is one of your endocrine glands, which make hormones. Thyroid hormones control the rate of many activities in your body. These include how fast you burn calories and how fast your heart beats. All of these activities are your body's metabolism. Thyroid problems include - Goiter - enlargement of the thyroid gland - Hyperthyroidism - when your thyroid gland makes more thyroid hormones than your body needs - Hypothyroidism - when your thyroid gland does not make enough thyroid hormones - Thyroid cancer - Thyroid nodules - lumps in the thyroid gland - Thyroiditis - swelling of the thyroid Dept. of Health and Human Services Office on Women's Health

What is (are) Bipolar Disorder ?

Bipolar disorder is a serious mental illness. People who have it go through unusual mood changes. They go from very happy, "up," and active to very sad and hopeless, "down," and inactive, and then back again. They often have normal moods in between. The up feeling is called mania. The down feeling is depression. The causes of bipolar disorder aren't always clear. It runs in families. Abnormal brain structure and function may also play a role. Bipolar disorder often starts in a person's late teen or early adult years. But children and adults can have bipolar disorder too. The illness usually lasts a lifetime. If you think you may have it, tell your health care provider. A medical checkup can rule out other illnesses that might cause your mood changes. If not treated, bipolar disorder can lead to damaged relationships, poor job or school performance, and even suicide. However, there are effective treatments to control symptoms: medicine and talk therapy. A combination usually works best. NIH: National Institute of Mental Health

What is (are) Arteriovenous Malformations ?

Arteriovenous malformations (AVMs) are defects in your vascular system. The vascular system includes arteries, veins, and capillaries. Arteries carry blood away from the heart to other organs; veins carry blood back to the heart. Capillaries connect the arteries and veins. An AVM is a snarled tangle of arteries and veins. They are connected to each other, with no capillaries. That interferes with the blood circulation in an organ. AVMs can happen anywhere, but they are more common in the brain or spinal cord. Most people with brain or spinal cord AVMs have few, if any, major symptoms. Sometimes they can cause seizures or headaches. AVMs are rare. The cause is not known, but they seem to develop during pregnancy or soon after birth. Doctors use imaging tests to detect them. Medicines can help with the symptoms from AVMs. The greatest danger is hemorrhage. Treatment for AVMs can include surgery or focused radiation therapy. Because surgery can be risky, you and your doctor need to make a decision carefully. NIH: National Institute of Neurological Disorders and Stroke

What is (are) Appendicitis ?

The appendix is a small, tube-like organ attached to the first part of the large intestine. It is located in the lower right part of the abdomen. It has no known function. A blockage inside of the appendix causes appendicitis. The blockage leads to increased pressure, problems with blood flow, and inflammation. If the blockage is not treated, the appendix can burst and spread infection into the abdomen. This causes a condition called peritonitis. The main symptom is pain in the abdomen, often on the right side. It is usually sudden and gets worse over time. Other symptoms may include - Swelling in the abdomen - Loss of appetite - Nausea and vomiting - Constipation or diarrhea - Inability to pass gas - Low fever Not everyone with appendicitis has all these symptoms. Appendicitis is a medical emergency. Treatment almost always involves removing the appendix. Anyone can get appendicitis, but it is more common among people 10 to 30 years old. NIH: National Institute of Diabetes and Digestive and Kidney Diseases

What is (are) hypermethioninemia ?

Hypermethioninemia is an excess of a particular protein building block (amino acid), called methionine, in the blood. This condition can occur when methionine is not broken down (metabolized) properly in the body. People with hypermethioninemia often do not show any symptoms. Some individuals with hypermethioninemia exhibit intellectual disability and other neurological problems; delays in motor skills such as standing or walking; sluggishness; muscle weakness; liver problems; unusual facial features; and their breath, sweat, or urine may have a smell resembling boiled cabbage. Hypermethioninemia can occur with other metabolic disorders, such as homocystinuria, tyrosinemia and galactosemia, which also involve the faulty breakdown of particular molecules. It can also result from liver disease or excessive dietary intake of methionine from consuming large amounts of protein or a methionine-enriched infant formula.

What is (are) Cerebellar Degeneration ?

Cerebellar degeneration is a process in which neurons in the cerebellum - the area of the brain that controls coordination and balance - deteriorate and die. Diseases that cause cerebellar degeneration can also involve other areas of the central nervous system,including the spinal cord, medulla oblongata, cerebral cortex, and brain stem. Cerebellar degeneration may be the result of inherited genetic mutations that alter the normal production of specific proteins that are necessary for the survival of neurons. Associated diseases: Diseases that are specific to the brain, as well as diseases that occur in other parts of the body, can cause neurons to die in the cerebellum. Neurological diseases that feature cerebellar degeneration include: - ischemic or hemorrhagic stroke, when there is lack of blood flow or oxygen to the cerebellum - cerebellar cortical atrophy, multisystem atrophy, and olivopontocerebellar degeneration, progressive degenerative disorders in which cerebellar degeneration is a key feature - Friedreichs ataxia, and other spinocerebellar ataxias, which are caused by inherited genetic mutations that result in ongoing loss of neurons in the cerebellum, brain stem, and spinal cord - transmissible spongiform encephalopathies (such as Creutzfeldt-Jakob disease) in which abnormal proteins cause inflammation in the brain, including the cerebellum - multiple sclerosis, in which damage to the insulating membrane (myelin) that wraps around and protects nerve cells can involve the cerebellum Other diseases that can cause cerebellar degeneration include: - chronic alcohol abuse that leads to temporary or permanent cerebellar damage - paraneoplastic disorders, in which a malignancy (cancer) in other parts of the body produces substances that cause immune system cells to attack neurons in the cerebellum Symptoms of cerebellar degeneration: The most characteristic symptom of cerebellar degeneration is a wide-based, unsteady, lurching walk, often accompanied by a back and forth tremor in the trunk of the body. Other symptoms may include slow, unsteady and jerky movement of the arms or legs, slowed and slurred speech, and nystagmus -- rapid, small movements of the eyes.

What is (are) G6PD Deficiency ?

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a genetic disorder that is most common in males. About 1 in 10 African American males in the United States has it. G6PD deficiency mainly affects red blood cells, which carry oxygen from the lungs to tissues throughout the body. The most common medical problem it can cause is hemolytic anemia. That happens when red blood cells are destroyed faster than the body can replace them. If you have G6PD deficiency, you may not have symptoms. Symptoms happen if your red blood cells are exposed to certain chemicals in food or medicine, certain bacterial or viral infections, or stress. They may include - Paleness - Jaundice - Dark urine - Fatigue - Shortness of breath - Enlarged spleen - Rapid heart rate A blood test can tell if you have it. Treatments include medicines to treat infection, avoiding substances that cause the problem with red blood cells, and sometimes transfusions. NIH: National Library of Medicine

What is (are) Dry Mouth ?

Sjgren's Syndrome Clinic National Institute of Dental and Craniofacial Research Building 10, Room 1N113 10 Center Drive MSC 1190 Bethesda, MD 20892-1190 301-435-8528 http://www.nidcr.nih.gov/Research/NIDCRLaboratories/ MolecularPhysiology/SjogrensSyndrome/default.htm

What is (are) Phobias ?

A phobia is a type of anxiety disorder. It is a strong, irrational fear of something that poses little or no real danger. There are many specific phobias. Acrophobia is a fear of heights. Agoraphobia is a fear of public places, and claustrophobia is a fear of closed-in places. If you become anxious and extremely self-conscious in everyday social situations, you could have a social phobia. Other common phobias involve tunnels, highway driving, water, flying, animals and blood. People with phobias try to avoid what they are afraid of. If they cannot, they may experience - Panic and fear - Rapid heartbeat - Shortness of breath - Trembling - A strong desire to get away Phobias usually start in children or teens, and continue into adulthood. The causes of specific phobias are not known, but they sometimes run in families. Treatment helps most people with phobias. Options include medicines, therapy or both. NIH: National Institute of Mental Health

What is (are) FG syndrome ?

FG syndrome is a genetic condition that affects many parts of the body and occurs almost exclusively in males. "FG" represents the surname initials of the first family diagnosed with the disorder. FG syndrome affects intelligence and behavior. Almost everyone with the condition has intellectual disability, which ranges from mild to severe. Affected individuals tend to be friendly, inquisitive, and hyperactive, with a short attention span. Compared to people with other forms of intellectual disability, their socialization and daily living skills are strong, while verbal communication and language skills tend to be weaker. The physical features of FG syndrome include weak muscle tone (hypotonia), broad thumbs, and wide first (big) toes. Abnormalities of the tissue connecting the left and right halves of the brain (the corpus callosum) are also common. Most affected individuals have constipation, and many have abnormalities of the anus such as an obstruction of the anal opening (imperforate anus). People with FG syndrome also tend to have a distinctive facial appearance including small, underdeveloped ears; a tall, prominent forehead; and outside corners of the eyes that point downward (down-slanting palpebral fissures). Additional features seen in some people with FG syndrome include widely set eyes (hypertelorism), an upswept frontal hairline, and a large head compared to body size (relative macrocephaly). Other health problems have also been reported, including heart defects, seizures, undescended testes (cryptorchidism) in males, and a soft out-pouching in the lower abdomen (an inguinal hernia).

What is (are) Prescription and Illicit Drug Abuse ?

Addiction is a chronic disease in which a person craves, seeks, and continues to abuse a legal (medication, alcohol, tobacco) or an illicit (illegal) drug, despite harmful consequences. People who are addicted continue to abuse the substance even though it can harm their physical or mental health, lead to accidents, or put others in danger. For more on drugs and the brain, see Drugs, Brains and Behavior: The Science of Addiction.

What is (are) 15q11.2 microdeletion ?

15q11.2 microdeletion refers to a chromosome abnormality in which a tiny piece of genetic material on the long arm of chromosome 15 (at a location designated q11.2) is missing (deleted). The features of people with a 15q11.2 microdeletion vary widely. The most common features include developmental, motor, and language delays; behavior and emotional problems; attention deficit disorders; and autism spectrum disorder. Other features may include birth defects and seizures. However, some people have no apparent physical, learning, or behavior problems. A 15q11.2 microdeletion may occur randomly for the first time in an affected person, or it may be inherited from a parent. Treatment depends on the signs and symptoms in each person.

What is (are) Spasticity ?

Spasticity is a condition in which there is an abnormal increase in muscle tone or stiffness of muscle, which might interfere with movement, speech, or be associated with discomfort or pain. Spasticity is usually caused by damage to nerve pathways within the brain or spinal cord that control muscle movement. It may occur in association with spinal cord injury, multiple sclerosis, cerebral palsy, stroke, brain or head trauma, amyotrophic lateral sclerosis, hereditary spastic paraplegias, and metabolic diseases such as adrenoleukodystrophy, phenylketonuria, and Krabbe disease. Symptoms may include hypertonicity (increased muscle tone), clonus (a series of rapid muscle contractions), exaggerated deep tendon reflexes, muscle spasms, scissoring (involuntary crossing of the legs), and fixed joints (contractures). The degree of spasticity varies from mild muscle stiffness to severe, painful, and uncontrollable muscle spasms. Spasticity can interfere with rehabilitation in patients with certain disorders, and often interferes with daily activities.

What is (are) Kidney Failure: Eat Right to Feel Right on Hemodialysis ?

Sodium is found in salt and other foods. Most canned foods and frozen dinners contain large amounts of sodium. Too much sodium makes you thirsty. But if you drink more fluid, your heart has to work harder to pump the fluid through your body. Over time, this can cause high blood pressure and congestive heart failure. Try to eat fresh foods that are naturally low in sodium Look for products labeled low sodium. Do not use salt substitutes because they contain potassium. Talk with a dietitian about spices you can use to flavor your food. The dietitian can help you find spice blends without sodium or potassium. Talk With a Dietitian Talk with a dietitian about spices and other healthy foods you can use to flavor your diet. List them on the lines below. Spice: _____________________________ Spice: _____________________________ Spice: _____________________________ Food: _____________________________ Food: _____________________________

What is (are) Homocystinuria ?

Homocystinuria is an inherited disorder in which the body is unable to process certain building blocks of proteins (amino acids) properly. The most common form, called cystathionine beta-synthase deficiency, is characterized by dislocation of the lens in the eye, an increased risk of abnormal blood clots, skeletal abnormalities, and sometimes problems with development and learning. Less common forms are caused by a lack of other enzymes. These disorders can cause intellectual disability, seizures, problems with movement, and a blood disorder called megaloblastic anemia. Mutations in the CBS, MTHFR, MTR, and MTRR genes cause homocystinuria, and it is inherited in an autosomal recessive manner. Treatment varies depending upon the cause of the disorder.

What is (are) nonsyndromic aplasia cutis congenita ?

Nonsyndromic aplasia cutis congenita is a condition in which babies are born with localized areas of missing skin (lesions). These areas resemble ulcers or open wounds, although they are sometimes already healed at birth. Lesions most commonly occur on the top of the head (skull vertex), although they can be found on the torso or limbs. In some cases, the bone and other tissues under the skin defect are also underdeveloped. Most affected babies have a single lesion. The lesions vary in size and can be differently shaped: some are round or oval, others rectangular, and still others star-shaped. They usually leave a scar after they heal. When the scalp is involved, there may be an absence of hair growth (alopecia) in the affected area. When the underlying bone and other tissues are involved, affected individuals are at higher risk of infections. If these severe defects occur on the head, the membrane that covers the brain (the dura mater) may be exposed, and life-threatening bleeding may occur from nearby vessels. Skin lesions are typically the only feature of nonsyndromic aplasia cutis congenita, although other skin problems and abnormalities of the bones and other tissues occur rarely. However, the characteristic skin lesions can occur as one of many symptoms in other conditions, including Johanson-Blizzard syndrome and Adams-Oliver syndrome. These instances are described as syndromic aplasia cutis congenita.

What is (are) Parkinson's Disease ?

The Parkinsons Disease Biomarkers Identification Network, or PD-BIN, is an initiative developed by the National Institute of Neurological Disorders and Stroke to discover and validate biomarkers for Parkinsons disease. Biomarkers are measurable characteristics that can reveal whether the disease is developing or progressing. Biomarkers could help doctors detect Parkinsons disease before symptoms appear and improve diagnosis of the disorder.

Do you have information about Cloning

Summary : Cloning describes the processes used to create an exact genetic replica of another cell, tissue or organism. The copied material, which has the same genetic makeup as the original, is referred to as a clone. The most famous clone was a Scottish sheep named Dolly. There are three different types of cloning: - Gene cloning, which creates copies of genes or segments of DNA - Reproductive cloning, which creates copies of whole animals - Therapeutic cloning, which creates embryonic stem cells. Researchers hope to use these cells to grow healthy tissue to replace injured or diseased tissues in the human body. NIH: National Human Genome Research Institute

What is (are) Beckwith-Wiedemann syndrome ?

Beckwith-Wiedemann syndrome is a condition that affects many parts of the body. It is classified as an overgrowth syndrome, which means that affected infants are considerably larger than normal (macrosomia) and tend to be taller than their peers during childhood. Growth begins to slow by about age 8, and adults with this condition are not unusually tall. In some children with Beckwith-Wiedemann syndrome, specific parts of the body on one side or the other may grow abnormally large, leading to an asymmetric or uneven appearance. This unusual growth pattern, which is known as hemihyperplasia, usually becomes less apparent over time. The signs and symptoms of Beckwith-Wiedemann syndrome vary among affected individuals. Some children with this condition are born with an opening in the wall of the abdomen (an omphalocele) that allows the abdominal organs to protrude through the belly-button. Other abdominal wall defects, such as a soft out-pouching around the belly-button (an umbilical hernia), are also common. Some infants with Beckwith-Wiedemann syndrome have an abnormally large tongue (macroglossia), which may interfere with breathing, swallowing, and speaking. Other major features of this condition include abnormally large abdominal organs (visceromegaly), creases or pits in the skin near the ears, low blood sugar (hypoglycemia) in infancy, and kidney abnormalities. Children with Beckwith-Wiedemann syndrome are at an increased risk of developing several types of cancerous and noncancerous tumors, particularly a form of kidney cancer called Wilms tumor and a form of liver cancer called hepatoblastoma. Tumors develop in about 10 percent of people with this condition and almost always appear in childhood. Most children and adults with Beckwith-Wiedemann syndrome do not have serious medical problems associated with the condition. Their life expectancy is usually normal.

What is (are) What I need to know about Lactose Intolerance ?

Lactose * intestine lactase , enzyme *See the Pronunciation Guide for tips on how to say the words in bold type.

What is (are) Incontinentia Pigmenti ?

Incontinentia pigmenti (IP) is an inherited disorder of skin pigmentation that is also associated with abnormalities of the teeth, skeletal system, eyes, and central nervous system. It is one of a group of gene-linked diseases known as neurocutaneous disorders. In most cases, IP is caused by mutations in a gene called NEMO (NF-kappaB essential modulator). Males are more severely affected than females. Discolored skin is caused by excessive deposits of melanin (normal skin pigment). Most newborns with IP will develop discolored skin within the first two weeks. The pigmentation involves the trunk and extremities, is slate-grey, blue or brown, and is distributed in irregular marbled or wavy lines. The discoloration fades with age. Neurological problems include loss of brain tissue (known as cerebral atrophy), the formation of small cavities in the central white matter of the brain, and the loss of neurons in the cerebellar cortex. About 20% of children with IP will have slow motor development, muscle weakness in one or both sides of the body, impaired cognitive development, and seizures. They are also likely to have visual problems, including crossed eyes, cataracts, and severe visual loss. Dental problems are also common, including missing or peg-shaped teeth. A related disorder, incontinentia pigmenti achromians, features skin patterns of light, unpigmented swirls and streaks that are the reverse of IP. Associated neurological problems are similar.

What is (are) Down Syndrome ?

Down syndrome is a condition in which a person is born with an extra copy of chromosome 21. People with Down syndrome can have physical problems, as well as intellectual disabilities. Every person born with Down syndrome is different. People with the syndrome may also have other health problems. They may be born with heart disease. They may have dementia. They may have hearing problems and problems with the intestines, eyes, thyroid, and skeleton. The chance of having a baby with Down syndrome increases as a woman gets older. Down syndrome cannot be cured. Early treatment programs can help improve skills. They may include speech, physical, occupational, and/or educational therapy. With support and treatment, many people with Down syndrome live happy, productive lives. NIH: National Institute of Child Health and Human Development

What is (are) Acanthamoeba - Granulomatous Amebic Encephalitis (GAE); Keratitis ?

Acanthamoeba is a microscopic, free-living ameba (single-celled living organism) commonly found in the environment that can cause rare, but severe, illness. Acanthamoeba causes three main types of illness involving the eye (Acanthamoeba keratitis), the brain and spinal cord (Granulomatous Encephalitis), and infections that can spread throughout the entire body (disseminated infection).

What is (are) Spondylocostal dysostosis 4 ?

Spondylocostal dysostosis is a group of conditions characterized by abnormal development of the bones in the spine and ribs. In the spine, the vertebrae are misshapen and fused. Many people with this condition have an abnormal side-to-side curvature of the spine (scoliosis). The ribs may be fused together or missing. These bone malformations lead to short, rigid necks and short midsections. Infants with spondylocostal dysostosis have small, narrow chests that cannot fully expand. This can lead to life-threatening breathing problems. Males with this condition are at an increased risk for inguinal hernia, where the diaphragm is pushed down, causing the abdomen to bulge out. There are several types of spondylocostal dysostosis. These types have similar features and are distinguished by their genetic cause and how they are inherited. Spondylocostal dysostosis 4 is caused by mutations in the HES7 gene. It is inherited in an autosomal recessive manner. Treatment is symptomatic and supportive and may include respiratory support and surgery to correct inguinal hernia and scoliosis.

What is (are) Danon disease ?

Danon disease is a condition characterized by weakening of the heart muscle (cardiomyopathy); weakening of the muscles used for movement, called skeletal muscles, (myopathy); and intellectual disability. Males with Danon disease usually develop the condition earlier than females and are more severely affected. Signs and symptoms begin in childhood or adolescence in most affected males and in early adulthood in most affected females. Affected males, on average, live to age 19, while affected females live to an average age of 34. Cardiomyopathy is the most common symptom of Danon disease and occurs in all males with the condition. Most affected men have hypertrophic cardiomyopathy, which is a thickening of the heart muscle that may make it harder for the heart to pump blood. Other affected males have dilated cardiomyopathy, which is a condition that weakens and enlarges the heart, preventing it from pumping blood efficiently. Some affected men with hypertrophic cardiomyopathy later develop dilated cardiomyopathy. Either type of cardiomyopathy can lead to heart failure and premature death. Most women with Danon disease also develop cardiomyopathy; of the women who have this feature, about half have hypertrophic cardiomyopathy, and the other half have dilated cardiomyopathy. Affected individuals can have other heart-related signs and symptoms, including a sensation of fluttering or pounding in the chest (palpitations), an abnormal heartbeat (arrhythmia), or chest pain. Many affected individuals have abnormalities of the electrical signals that control the heartbeat (conduction abnormalities). People with Danon disease are often affected by a specific conduction abnormality known as cardiac preexcitation. The type of cardiac preexcitation most often seen in people with Danon disease is called the Wolff-Parkinson-White syndrome pattern. Skeletal myopathy occurs in most men with Danon disease and about half of affected women. The weakness typically occurs in the muscles of the upper arms, shoulders, neck, and upper thighs. Many males with Danon disease have elevated levels of an enzyme called creatine kinase in their blood, which often indicates muscle disease. Most men with Danon disease, but only a small percentage of affected women, have intellectual disability. If present, the disability is usually mild. There can be other signs and symptoms of the condition in addition to the three characteristic features. Several affected individuals have had gastrointestinal disease, breathing problems, or visual abnormalities.

What is (are) Cerebellar degeneration ?

Cerebellar degeneration refers to the deterioration of neurons in the cerebellum (the area of the brain that controls muscle coordination and balance). Conditions that cause cerebellar degeneration may also affect other areas of the central nervous system, such as the spinal cord, the cerebral cortex, and the brain stem. Signs and symptoms of cerebellar degeneration may include a wide-based, uncoordinated walk; a back and forth tremor in the trunk of the body; uncoordinated movements of the arms and legs; slow and slurred speech; and nystagmus. Cerebellar degeneration can be caused by a variety of factors including inherited gene changes (mutations), chronic alcohol abuse, and paraneoplastic disorders. Treatment for cerebellar degeneration varies depending on the underlying cause.

What is (are) Collapsed Lung ?

A collapsed lung happens when air enters the pleural space, the area between the lung and the chest wall. If it is a total collapse, it is called pneumothorax. If only part of the lung is affected, it is called atelectasis. Causes of a collapsed lung include - Lung diseases such as pneumonia or lung cancer - Being on a breathing machine - Surgery on the chest or abdomen - A blocked airway If only a small area of the lung is affected, you may not have symptoms. If a large area is affected, you may feel short of breath and have a rapid heart rate. A chest x-ray can tell if you have it. Treatment depends on the underlying cause. NIH: National Heart, Lung, and Blood Institute

What is (are) Pilocytic astrocytoma ?

Pilocytic astrocytoma is an often benign, slow-growing tumor of the brain or spinal cord. The tumor may be in the form of a cyst and usually does not spread to nearby tissues. Symptoms vary depending upon the size and location of the tumor. Most symptoms result from increased pressure on the brain and include headaches, nausea, vomiting, balance problems, and vision abnormalities. The underlying cause of a pilocytic astrocytoma is unknown. It most commonly occurs in children and young adults, and in people with neurofibromatosis type 1 (NF1), Li-Fraumeni syndrome, and tuberous sclerosis. This type of tumor can often be cured with surgery.

Do you have information about Chiropractic

Summary : Chiropractic is a health care profession. Chiropractors perform adjustments (manipulations) to the spine or other parts of the body. The goal is to correct alignment problems, ease pain, and support the body's natural ability to heal itself. They may also use other treatments including - Heat and ice - Electrical stimulation - Relaxation techniques - Rehabilitative and general exercise - Counseling about diet, weight loss, and other lifestyle factors - Dietary supplements Many people visit chiropractors for treatment of low back pain, neck pain, and headaches. NIH: National Center for Complementary and Integrative Health

What is (are) cystinuria ?

Cystinuria is a condition characterized by the buildup of the amino acid cystine, a building block of most proteins, in the kidneys and bladder. As the kidneys filter blood to create urine, cystine is normally absorbed back into the bloodstream. People with cystinuria cannot properly reabsorb cystine into their bloodstream, so the amino acid accumulates in their urine. As urine becomes more concentrated in the kidneys, the excess cystine forms crystals. Larger crystals become stones that may lodge in the kidneys or in the bladder. Sometimes cystine crystals combine with calcium molecules in the kidneys to form large stones. These crystals and stones can create blockages in the urinary tract and reduce the ability of the kidneys to eliminate waste through urine. The stones also provide sites where bacteria may cause infections.

What is (are) Farber's Disease ?

Farbers disease, also known as Farber's lipogranulomatosis, describes a group of inherited metabolic disorders called lipid storage diseases, in which excess amounts of lipids (oils, fatty acids, and related compounds) build up to harmful levels in the joints, tissues, and central nervous system. The liver, heart, and kidneys may also be affected. Disease onset is typically seen in early infancy but may occur later in life. Symptoms of the classic form may have moderately impaired mental ability and difficulty with swallowing. Other symptoms may include chronic shortening of muscles or tendons around joints. arthritis, swollen lymph nodes and joints, hoarseness, nodules under the skin (and sometimes in the lungs and other parts of the body), and vomiting. Affected persons may require the insertion of a breathing tube. In severe cases, the liver and spleen are enlarged. Farber's disease is caused by a deficiency of the enzyme ceramidase. The disease occurs when both parents carry and pass on the defective gene that regulates the protein sphingomyelin. Children born to these parents have a 25 percent chance of inheriting the disorder and a 50 percent chance of carrying the faulty gene. The disorder affects both males and females.

What is (are) Scabies ?

Scabies is an itchy skin condition caused by the microscopic mite Sarcoptes scabei. It is common all over the world, and can affect anyone. Scabies spreads quickly in crowded conditions where there is frequent skin-to-skin contact between people. Hospitals, child-care centers, and nursing homes are examples. Scabies can easily infect sex partners and other household members. Sharing clothes, towels, and bedding can sometimes spread scabies. This can happen much more easily when the infested person has crusted scabies. You cannot get scabies from a pet. Pets get a different mite infection called mange. Symptoms are - Pimple-like irritations or a rash - Intense itching, especially at night - Sores caused by scratching Your health care provider diagnoses scabies by looking at the skin rash and finding burrows in the skin. Several lotions are available to treat scabies. The infected person's clothes, bedding and towels should be washed in hot water and dried in a hot dryer. Treatment is also recommended for household members and sexual partners. Centers for Disease Control and Prevention

What is (are) Hydranencephaly ?

Hydranencephaly is a rare condition in which the brain's cerebral hemispheres are absent and replaced by sacs filled with cerebrospinal fluid (CSF). Affected infants may appear and act normal at birth, but irritability and hypertonia often develop within a few weeks. Other signs and symptoms may include seizures, hydrocephalus, visual impairment, lack of growth, deafness, blindness, paralysis, and intellectual disabilities. Prognosis is typically poor with many affected children dying before one year of age. In rare cases, children may survive for several years or more. It has been suspected to be an inherited condition, although some researchers believe it may be caused by prenatal blockage of the carotid artery where it enters the cranium. Treatment is generally symptomatic and supportive; hydrocephalus may be treated with a shunt.

What is (are) Dry Mouth ?

Dry mouth is the feeling that there is not enough saliva in your mouth. Everyone has a dry mouth once in a while - if they are nervous, upset or under stress. But if you have a dry mouth all or most of the time, it can be uncomfortable and can lead to serious health problems. Symptoms of dry mouth include - A sticky, dry feeling in the mouth - Trouble chewing, swallowing, tasting, or speaking - A burning feeling in the mouth - A dry feeling in the throat - Cracked lips - A dry, rough tongue - Mouth sores - An infection in the mouth Dry mouth is not a normal part of aging. Causes include some medicines, radiation therapy, chemotherapy, and nerve damage. Salivary gland diseases, Sjogren's syndrome, HIV/AIDS, and diabetes can also cause dry mouth. Treatment depends on the cause. Things you can do include sipping water, avoiding drinks with caffeine, tobacco, and alcohol, and chewing sugarless gum or sucking on sugarless hard candy. NIH: National Institute of Dental and Craniofacial Research

What is (are) Cataract ?

National Eye Institute National Institutes of Health 2020 Vision Place Bethesda, MD 20892-3655 301-496-5248 E-mail: 2020@nei.nih.gov www.nei.nih.gov For more information about intraocular lenses, or IOLs, contact: U.S. Food and Drug Administration 10903 New Hampshire Avenue Silver Spring, MD 20993-0002 1-888-463-6332 E-mail: webmail@oc.fda.gov

What is (are) What I need to know about Hepatitis B ?

The liver is an organ that does many important things. You cannot live without a liver. *See the Pronunciation Guide for tips on how to say the words in bold type. The liver - removes harmful chemicals from your blood - fights infection - helps digest food - stores nutrients and vitamins - stores energy

What is (are) pseudohypoaldosteronism type 2 ?

Pseudohypoaldosteronism type 2 (PHA2) is caused by problems that affect regulation of the amount of sodium and potassium in the body. Sodium and potassium are important in the control of blood pressure, and their regulation occurs primarily in the kidneys. People with PHA2 have high blood pressure (hypertension) and high levels of potassium in their blood (hyperkalemia) despite having normal kidney function. The age of onset of PHA2 is variable and difficult to pinpoint; some affected individuals are diagnosed in infancy or childhood, and others are diagnosed in adulthood. Hyperkalemia usually occurs first, and hypertension develops later in life. Affected individuals also have high levels of chloride (hyperchloremia) and acid (metabolic acidosis) in their blood (together, referred to as hyperchloremic metabolic acidosis). People with hyperkalemia, hyperchloremia, and metabolic acidosis can have nonspecific symptoms like nausea, vomiting, extreme tiredness (fatigue), and muscle weakness. People with PHA2 may also have high levels of calcium in their urine (hypercalciuria).

What is (are) Antiphospholipid Antibody Syndrome ?

Antiphospholipid (AN-te-fos-fo-LIP-id) antibody syndrome (APS) is an autoimmune disorder. Autoimmune disorders occur if the body's immune system makes antibodies that attack and damage tissues or cells. Antibodies are a type of protein. They usually help defend the body against infections. In APS, however, the body makes antibodies that mistakenly attack phospholipidsa type of fat. Phospholipids are found in all living cells and cell membranes, including blood cells and the lining of blood vessels. When antibodies attack phospholipids, cells are damaged. This damage causes blood clots to form in the body's arteries and veins. (These are the vessels that carry blood to your heart and body.) Usually, blood clotting is a normal bodily process. Blood clots help seal small cuts or breaks on blood vessel walls. This prevents you from losing too much blood. In APS, however, too much blood clotting can block blood flow and damage the body's organs. Overview Some people have APS antibodies, but don't ever have signs or symptoms of the disorder. Having APS antibodies doesn't mean that you have APS. To be diagnosed with APS, you must have APS antibodies and a history of health problems related to the disorder. APS can lead to many health problems, such as stroke, heart attack, kidney damage, deep vein thrombosis (throm-BO-sis), and pulmonary embolism (PULL-mun-ary EM-bo-lizm). APS also can cause pregnancy-related problems, such as multiple miscarriages, a miscarriage late in pregnancy, or a premature birth due to eclampsia (ek-LAMP-se-ah). (Eclampsia, which follows preeclampsia, is a serious condition that causes seizures in pregnant women.) Very rarely, some people who have APS develop many blood clots within weeks or months. This condition is called catastrophic antiphospholipid syndrome (CAPS). People who have APS also are at higher risk for thrombocytopenia (THROM-bo-si-to-PE-ne-ah). This is a condition in which your blood has a lower than normal number of blood cell fragments called platelets (PLATE-lets). Antibodies destroy the platelets, or theyre used up during the clotting process. Mild to serious bleeding can occur with thrombocytopenia. APS can be fatal. Death may occur as a result of large blood clots or blood clots in the heart, lungs, or brain. Outlook APS can affect people of any age. However, it's more common in women and people who have other autoimmune or rheumatic (ru-MAT-ik) disorders, such as lupus. ("Rheumatic" refers to disorders that affect the joints, bones, or muscles.) APS has no cure, but medicines can help prevent its complications. Medicines are used to stop blood clots from forming. They also are used to keep existing clots from getting larger. Treatment for APS is long term. If you have APS and another autoimmune disorder, it's important to control that condition as well. When the other condition is controlled, APS may cause fewer problems.

What is (are) Aneurysms ?

An aneurysm is a bulge or "ballooning" in the wall of an artery. Arteries are blood vessels that carry oxygen-rich blood from the heart to other parts of the body. If an aneurysm grows large, it can burst and cause dangerous bleeding or even death. Most aneurysms occur in the aorta, the main artery that runs from the heart through the chest and abdomen. Aneurysms also can happen in arteries in the brain, heart and other parts of the body. If an aneurysm in the brain bursts, it causes a stroke. Aneurysms can develop and become large before causing any symptoms. Often doctors can stop aneurysms from bursting if they find and treat them early. They use imaging tests to find aneurysms. Often aneurysms are found by chance during tests done for other reasons. Medicines and surgery are the two main treatments for aneurysms. NIH: National Heart, Lung, and Blood Institute

Do you have information about Dietary Supplements

Summary : Dietary supplements are vitamins, minerals, herbs, and many other products. They can come as pills, capsules, powders, drinks, and energy bars. Supplements do not have to go through the testing that drugs do. Some supplements can play an important role in health. For example, calcium and vitamin D are important for keeping bones strong. Pregnant women can take the vitamin folic acid to prevent certain birth defects in their babies. To take a supplement as safely as possible - Tell your health care provider about any dietary supplements you use - Do not take a bigger dose than the label recommends - Check with your health care provider about the supplements you take if you are going to have any type of surgery - Read trustworthy information about the supplement NIH: National Institutes of Health Office of Dietary Supplements

What is (are) Filippi syndrome ?

Filippi syndrome is an extremely rare genetic condition characterized by a small head (microcephaly), webbing of the fingers and toes (syndactyly), intellectual disability, growth delay, and distinctive facial features (high and broad nasal bridge, thin nostrils, small chin or micrognathia, and a high frontal hairline). Other features can include undescended testicles in males, extra fingers (polydactyly), as well as teeth and hair abnormalities. So far, less than 25 cases have been reported in the medical literature. This condition is inherited in an autosomal recessive fashion. The exact underlying genetic cause is not known.

What is (are) combined malonic and methylmalonic aciduria ?

Combined malonic and methylmalonic aciduria (CMAMMA) is a condition characterized by high levels of certain chemicals, known as malonic acid and methylmalonic acid, in the body. A distinguishing feature of this condition is higher levels of methylmalonic acid than malonic acid in the urine, although both are elevated. The signs and symptoms of CMAMMA can begin in childhood. In some children, the buildup of acids causes the blood to become too acidic (ketoacidosis), which can damage the body's tissues and organs. Other signs and symptoms may include involuntary muscle tensing (dystonia), weak muscle tone (hypotonia), developmental delay, an inability to grow and gain weight at the expected rate (failure to thrive), low blood sugar (hypoglycemia), and coma. Some affected children have an unusually small head size (microcephaly). Other people with CMAMMA do not develop signs and symptoms until adulthood. These individuals usually have neurological problems, such as seizures, loss of memory, a decline in thinking ability, or psychiatric diseases.

What is (are) Lung Cancer ?

The body is made up of many types of cells. Normally, cells grow, divide, and produce more cells as needed to keep the body healthy and functioning properly. Sometimes, however, the process goes wrong -- cells become abnormal and form more cells in an uncontrolled way. These extra cells form a mass of tissue, called a growth or tumor. Tumors can be benign, meaning not cancerous, or malignant, meaning cancerous.

What is (are) Dowling-Degos disease ?

Dowling-Degos disease is a skin condition characterized by a lacy or net-like (reticulate) pattern of abnormally dark skin coloring (hyperpigmentation), particularly in the body's folds and creases. These skin changes typically first appear in the armpits and groin area and can later spread to other skin folds such as the crook of the elbow and back of the knee. Less commonly, pigmentation changes can also occur on the wrist, back of the hand, face, scalp, scrotum (in males), and vulva (in females). These areas of hyperpigmentation do not darken with exposure to sunlight and cause no health problems. Individuals with Dowling-Degos disease may also have dark lesions on the face and back that resemble blackheads, red bumps around the mouth that resemble acne, or depressed or pitted scars on the face similar to acne scars but with no history of acne. Cysts within the hair follicle (pilar cysts) may develop, most commonly on the scalp. Rarely, affected individuals have patches of skin that are unusually light in color (hypopigmented). The pigmentation changes characteristic of Dowling-Degos disease typically begin in late childhood or in adolescence, although in some individuals, features of the condition do not appear until adulthood. New areas of hyperpigmentation tend to develop over time, and the other skin lesions tend to increase in number as well. While the skin changes caused by Dowling-Degos disease can be bothersome, they typically cause no health problems. A condition called Galli-Galli disease has signs and symptoms similar to those of Dowling-Degos disease. In addition to pigmentation changes, individuals with Galli-Galli disease also have a breakdown of cells in the outer layer of skin (acantholysis). Acantholysis can cause skin irritation and itchiness. These conditions used to be considered two separate disorders, but Galli-Galli disease and Dowling-Degos disease are now regarded as the same condition.

Do you have information about Personal Health Records

Summary : You've probably seen your chart at your doctor's office. In fact, you may have charts at several doctors' offices. If you've been in the hospital, you have a chart there, too. These charts are your medical records. They may be on paper or electronic. To keep track of all this information, it's a good idea to keep your own personal health record. What kind of information would you put in a personal health record? You could start with - Your name, birth date, blood type, and emergency contact information - Date of last physical - Dates and results of tests and screenings - Major illnesses and surgeries, with dates - A list of your medicines and supplements, the dosages, and how long you've taken them - Any allergies - Any chronic diseases - Any history of illnesses in your family

What is (are) Mayer-Rokitansky-Kster-Hauser syndrome ?

Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome is a disorder that occurs in females and mainly affects the reproductive system. This condition causes the vagina and uterus to be underdeveloped or absent. Affected women usually do not have menstrual periods due to the absent uterus. Often, the first noticeable sign of MRKH syndrome is that menstruation does not begin by age 16 (primary amenorrhea). Women with MRKH syndrome have a female chromosome pattern (46,XX) and normally functioning ovaries. They also have normal female external genitalia and normal breast and pubic hair development. Although women with this condition are usually unable to carry a pregnancy, they may be able to have children through assisted reproduction. Women with MRKH syndrome may also have abnormalities in other parts of the body. The kidneys may be abnormally formed or positioned, or one kidney may fail to develop (unilateral renal agenesis). Affected individuals commonly develop skeletal abnormalities, particularly of the spinal bones (vertebrae). Females with MRKH syndrome may also have hearing loss or heart defects.

What is (are) Chromosome 15q deletion ?

Chromosome 15q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 15. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 15q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.

What is (are) Testicular Disorders ?

Testicles, or testes, make male hormones and sperm. They are two egg-shaped organs inside the scrotum, the loose sac of skin behind the penis. It's easy to injure your testicles because they are not protected by bones or muscles. Men and boys should wear athletic supporters when they play sports. You should examine your testicles monthly and seek medical attention for lumps, redness, pain or other changes. Testicles can get inflamed or infected. They can also develop cancer. Testicular cancer is rare and highly treatable. It usually happens between the ages of 15 and 40.

What is (are) Amyopathic dermatomyositis ?

Amyopathic dermatomyositis is a form of dermatomyositis characterized by the presence of typical skin findings without muscle weakness. Some of the skin changes that suggest dermatomyositis include a pink rash on the face, neck, forearms and upper chest; Gottron's papules and heliotrope eyelids. Pruritis and photosensitivity are common, as is scalp inflammation and thinning of the hair. While patients with amyopathic dermatomyositis should not have clinically evident muscle weakness, minor muscle abnormalities may be included. Fatigue is reported in at least 50% of patients. Some cases have been associated with internal malignancy and/or interstitial lung disease. Treatment may include sun avoidance, ample use of sunscreen, topical corticosteroids, antimalarial agents, methotrexate, mycophenolate mofetil, or intravenous (IV) immunoglobulin.