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[User] How to diagnose Gallbladder Cancer ?

[Assistant] Tests that examine the gallbladder and nearby organs are used to detect (find), diagnose, and stage gallbladder cancer. Procedures that make pictures of the gallbladder and the area around it help diagnose gallbladder cancer and show how far the cancer has spread. The process used to find out if cancer cells have spread within and around the gallbladder is called staging.    In order to plan treatment, it is important to know if the gallbladder cancer can be removed by surgery. Tests and procedures to detect, diagnose, and stage gallbladder cancer are usually done at the same time. The following tests and procedures may be used:         -   Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken.    -   Liver function tests : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by the liver. A higher than normal amount of a substance can be a sign of liver disease that may be caused by gallbladder cancer.    -   Carcinoembryonic antigen (CEA) assay : A test that measures the level of CEA in the blood. CEA is released into the bloodstream from both cancer cells and normal cells. When found in higher than normal amounts, it can be a sign of gallbladder cancer or other conditions.    -   CA 19-9 assay : A test that measures the level of CA 19-9 in the blood. CA 19-9 is released into the bloodstream from both cancer cells and normal cells. When found in higher than normal amounts, it can be a sign of gallbladder cancer or other conditions.    -   Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease.     -   CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the chest, abdomen, and pelvis, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography.     -   Ultrasound exam: A procedure in which high-energy sound waves (ultrasound) are bounced off internal tissues or organs and make echoes. The echoes form a picture of body tissues called a sonogram. An abdominal ultrasound is done to diagnose gallbladder cancer.    -   PTC (percutaneous transhepatic cholangiography): A procedure used to x-ray the liver and bile ducts. A thin needle is inserted through the skin below the ribs and into the liver. Dye is injected into the liver or bile ducts and an x-ray is taken. If a blockage is found, a thin, flexible tube called a stent is sometimes left in the liver to drain bile into the small intestine or a collection bag outside the body.    -   Chest x-ray : An x-ray of the organs and bones inside the chest. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body.    -   ERCP (endoscopic retrograde cholangiopancreatography): A procedure used to x-ray the ducts (tubes) that carry bile from the liver to the gallbladder and from the gallbladder to the small intestine. Sometimes gallbladder cancer causes these ducts to narrow and block or slow the flow of bile, causing jaundice. An endoscope (a thin, lighted tube) is passed through the mouth, esophagus, and stomach into the first part of the small intestine. A catheter (a smaller tube) is then inserted through the endoscope into the bile ducts. A dye is injected through the catheter into the ducts and an x-ray is taken. If the ducts are blocked by a tumor, a fine tube may be inserted into the duct to unblock it. This tube (or stent) may be left in place to keep the duct open. Tissue samples may also be taken.     -   Laparoscopy : A surgical procedure to look at the organs inside the abdomen to check for signs of disease. Small incisions (cuts) are made in the wall of the abdomen and a laparoscope (a thin, lighted tube) is inserted into one of the incisions. Other instruments may be inserted through the same or other incisions to perform procedures such as removing organs or taking tissue samples for biopsy. The laparoscopy helps to find out if the cancer is within the gallbladder only or has spread to nearby tissues and if it can be removed by surgery.    -   Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer. The biopsy may be done after surgery to remove the tumor. If the tumor clearly cannot be removed by surgery, the biopsy may be done using a fine needle to remove cells from the tumor.


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[User] What are the genetic changes related to X-linked sideroblastic anemia and ataxia ?

[Assistant] Mutations in the ABCB7 gene cause X-linked sideroblastic anemia and ataxia. The ABCB7 gene provides instructions for making a protein that is critical for heme production. Heme is a component of the hemoglobin protein, which is vital for supplying oxygen to the entire body. The ABCB7 protein also plays a role in the formation of certain proteins containing clusters of iron and sulfur atoms. Overall, researchers believe that the ABCB7 protein helps maintain an appropriate balance of iron (iron homeostasis) in developing red blood cells.  ABCB7 mutations slightly alter the structure of the ABCB7 protein, disrupting its usual role in heme production and iron homeostasis. Anemia results when heme cannot be produced normally, and therefore not enough hemoglobin is made. It is unclear how changes in the ABCB7 gene lead to ataxia and other problems with movement.


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[User] What are the symptoms of Hemochromatosis ?

[Assistant]
A person with hemochromatosis may notice one or more of the following symptoms:

- joint pain  - fatigue, or feeling tired  - unexplained weight loss  - abnormal bronze or gray skin color  - abdominal pain  - loss of sex drive

Not everyone with hemochromatosis will develop these symptoms.


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[User] What is (are) Pneumococcal Infections ?

[Assistant] Pneumococci are a type of streptococcus bacteria. The bacteria spread through contact with people who are ill or by healthy people who carry the bacteria in the back of their nose. Pneumococcal infections can be mild or severe. The most common types of infections are       - Ear infections    - Sinus infections    - Pneumonia    - Sepsis    - Meningitis       How the diagnosis is made depends upon where the infection is. Your doctor will do a physical exam and health history. Possible tests may include blood, imaging, or lab tests. Treatment is with antibiotics. Vaccines can prevent pneumococcal infections. There are two vaccines. One is for infants and young children. The other is for people at high risk, including those who are over 65 years old, have chronic illnesses or weak immune systems, smoke, have asthma, or live in long-term care facilities.    Centers for Disease Control and Prevention


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[User] What is (are) Panic Disorder ?

[Assistant] Panic disorder is a type of anxiety disorder. It causes panic attacks, which are sudden feelings of terror when there is no real danger. You may feel as if you are losing control. You may also have physical symptoms, such as       - Fast heartbeat    - Chest or stomach pain    - Breathing difficulty    - Weakness or dizziness    - Sweating    - Feeling hot or a cold chill    - Tingly or numb hands       Panic attacks can happen anytime, anywhere, and without warning. You may live in fear of another attack and may avoid places where you have had an attack. For some people, fear takes over their lives and they cannot leave their homes.    Panic disorder is more common in women than men. It usually starts when people are young adults. Sometimes it starts when a person is under a lot of stress. Most people get better with treatment. Therapy can show you how to recognize and change your thinking patterns before they lead to panic. Medicines can also help.    NIH: National Institute of Mental Health


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[User] How to diagnose Geniospasm ?

[Assistant] How might hereditary geniospasm be diagnosed? Although we were unable to locate laboratories offering genetic testing for hereditary geniospasm, the condition can be diagnosed on the basis of a clinical evaluation performed by a health care professional such as a neurologist who specializes in movement disorders.


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[User] What is (are) Adrenal Gland Cancer ?

[Assistant] 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.


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[User] How to diagnose Pernicious Anemia ?

[Assistant]
Your doctor will diagnose pernicious anemia based on your medical and family histories, a physical exam, and test results.

Your doctor will want to find out whether the condition is due to a lack of intrinsic factor or another cause. He or she also will want to find out the severity of the condition, so it can be properly treated.

Specialists Involved

Primary care doctorssuch as family doctors, internists, and pediatricians (doctors who treat children)often diagnose and treat pernicious anemia. Other kinds of doctors also may be involved, including:

A neurologist (nervous system specialist)

A cardiologist (heart specialist)

A hematologist (blood disease specialist)

A gastroenterologist (digestive tract specialist)

Medical and Family Histories

Your doctor may ask about your signs and symptoms. He or she also may ask:

Whether you've had any stomach or intestinal surgeries

Whether you have any digestive disorders, such as celiac disease or Crohn's disease

About your diet and any medicines you take

Whether you have a family history of anemia or pernicious anemia

Whether you have a family history of autoimmune disorders (such as Addison's disease, type 1 diabetes, Graves' disease, or vitiligo). Research suggests a link may exist between these autoimmune disorders and pernicious anemia that's caused by an autoimmune response.

Physical Exam

During the physical exam, your doctor may check for pale or yellowish skin and an enlarged liver. He or she may listen to your heart for rapid or irregular heartbeats or a heart murmur.

Your doctor also may check for signs of nerve damage. He or she may want to see how well your muscles, eyes, senses, and reflexes work. Your doctor may ask questions or do tests to check your mental status, coordination, and ability to walk.

Diagnostic Tests and Procedures

Blood tests and procedures can help diagnose pernicious anemia and find out what's causing it.

Complete Blood Count

Often, the first test used to diagnose many types of anemia is a complete blood count (CBC). This test measures many parts of your blood. For this test, a small amount of blood is drawn from a vein (usually in your arm) using a needle.

A CBC checks your hemoglobin (HEE-muh-glow-bin) and hematocrit (hee-MAT-oh-crit) levels. Hemoglobin is an iron-rich protein that helps red blood cells carry oxygen from the lungs to the rest of the body. Hematocrit is a measure of how much space red blood cells take up in your blood. A low level of hemoglobin or hematocrit is a sign of anemia.

The normal range of these levels may be lower in certain racial and ethnic populations. Your doctor can explain your test results to you.

The CBC also checks the number of red blood cells, white blood cells, and platelets (PLATE-lets) in your blood. Abnormal results may be a sign of anemia, another blood disorder, an infection, or another condition.

Finally, the CBC looks at mean corpuscular (kor-PUS-kyu-lar) volume (MCV). MCV is a measure of the average size of your red blood cells. MCV can be a clue as to what's causing your anemia. In pernicious anemia, the red blood cells tend to be larger than normal.

Other Blood Tests

If the CBC results confirm that you have anemia, you may need other blood tests to find out what type of anemia you have.

A reticulocyte (re-TIK-u-lo-site) count measures the number of young red blood cells in your blood. The test shows whether your bone marrow is making red blood cells at the correct rate. People who have pernicious anemia have low reticulocyte counts.

Serum folate, iron, and iron-binding capacity tests also can help show whether you have pernicious anemia or another type of anemia.

Another common test, called the Combined Binding Luminescence Test, sometimes gives false results. Scientists are working to develop a more reliable test.

Your doctor may recommend other blood tests to check:

Your vitamin B12 level. A low level of vitamin B12 in the blood indicates pernicious anemia. However, a falsely normal or high value of vitamin B12 in the blood may occur if antibodies interfere with the test.

Your homocysteine and methylmalonic acid (MMA) levels. High levels of these substances in your body are a sign of pernicious anemia.

For intrinsic factor antibodies and parietal cell antibodies. These antibodies also are a sign of pernicious anemia.

Bone Marrow Tests

Bone marrow tests can show whether your bone marrow is healthy and making enough red blood cells. The two bone marrow tests are aspiration (as-pi-RA-shun) and biopsy.

For aspiration, your doctor removes a small amount of fluid bone marrow through a needle. For a biopsy, your doctor removes a small amount of bone marrow tissue through a larger needle. The samples are then examined under a microscope.

In pernicious anemia, the bone marrow cells that turn into blood cells are larger than normal.


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[User] What are the symptoms of Sjogren-Larsson-like syndrome ?

[Assistant] What are the signs and symptoms of Sjogren-Larsson-like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sjogren-Larsson-like syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eye - Abnormality of the nervous system - Autosomal recessive inheritance - Congenital ichthyosiform erythroderma - Hyperkeratosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What is (are) Cataract ?

[Assistant] 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


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[User] What are the treatments for Behr syndrome ?

[Assistant] How might Behr syndrome be treated? Treatment is symptomatic. For instance, people who develop muscle contractures may have to undergo surgery.


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[User] What are the symptoms of Wolfram syndrome ?

[Assistant] What are the signs and symptoms of Wolfram syndrome? There are two types of Wolfram syndrome (type 1 and type 2) which have many overlapping features. Wolfram syndrome type 1, which is also known by the acronym DIDMOAD, is characterized by diabetes insipidus (DI), childhood-onset diabetes mellitus (DM), gradual loss of vision due to optic atrophy (OA), and deafness (D). About 65% of affected people will develop all four of these symptoms, while others will only have some of the associated health problems. Other signs and symptoms of Wolfram syndrome type 1 may include: Urinary tract abnormalities Ataxia (problems with coordination and balance) Loss of sense of smell Loss of gag reflex Myoclonus (muscle spasms) Peripheral neuropathy Seizures Depression Impulsive and/or aggressive behavior Psychosis Gastrointestinal problems Intellectual disability Central apnea and central respiratory failure Hypogonadism in males (reduced amounts of the sex hormone testosterone) In addition to the signs and symptoms found in Wolfram syndrome type 1, people with Wolfram syndrome type 2 may also have stomach and/or intestinal ulcers; and a tendancy to bleed excessivly after injuries.   The Human Phenotype Ontology provides the following list of signs and symptoms for Wolfram syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Diabetes insipidus 90% Diabetes mellitus 90% Hearing impairment 90% Optic atrophy 90% Hypoglycemia 50% Incoordination 50% Nephropathy 50% Neurological speech impairment 50% Nystagmus 50% Recurrent urinary tract infections 50% Seizures 50% Visual impairment 50% Abnormality of the autonomic nervous system 7.5% Abnormality of the gastric mucosa 7.5% Abnormality of the genital system 7.5% Anemia 7.5% Apnea 7.5% Cataract 7.5% Cerebral cortical atrophy 7.5% Cognitive impairment 7.5% Congestive heart failure 7.5% Constipation 7.5% Developmental regression 7.5% Feeding difficulties in infancy 7.5% Gastric ulcer 7.5% Gastrointestinal hemorrhage 7.5% Glaucoma 7.5% Hallucinations 7.5% Hypertrophic cardiomyopathy 7.5% Hypothyroidism 7.5% Limitation of joint mobility 7.5% Malabsorption 7.5% Myopathy 7.5% Ophthalmoparesis 7.5% Peripheral neuropathy 7.5% Recurrent respiratory infections 7.5% Reduced consciousness/confusion 7.5% Renal insufficiency 7.5% Respiratory insufficiency 7.5% Retinopathy 7.5% Sleep disturbance 7.5% Abnormal bleeding - Abnormality of the skeletal system - Ataxia - Autosomal recessive inheritance - Behavioral abnormality - Blindness - Cardiomyopathy - Cerebral atrophy - Dysarthria - Dysautonomia - Dysphagia - Growth delay - Hydronephrosis - Hydroureter - Impaired collagen-induced platelet aggregation - Intellectual disability - Limited mobility of proximal interphalangeal joint - Megaloblastic anemia - Neurogenic bladder - Neutropenia - Optic neuropathy - Pigmentary retinopathy - Ptosis - Sensorineural hearing impairment - Sideroblastic anemia - Stroke-like episodes - Testicular atrophy - Thrombocytopenia - Tremor - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What are the symptoms of Premature ovarian failure, familial ?

[Assistant] What are the signs and symptoms of Premature ovarian failure, familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Premature ovarian failure, familial. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Increased circulating gonadotropin level - Menstrual irregularities - Premature ovarian failure - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What is (are) Eye Diseases ?

[Assistant] Some eye problems are minor and don't last long. But some can lead to a permanent loss of vision.    Common eye problems include       - Refractive errors    - Cataracts - clouded lenses    - Glaucoma - a disorder caused by damage to the optic nerve    - Retinal disorders - problems with the nerve layer at the back of the eye    - Macular degeneration - a disease that destroys sharp, central vision    - Diabetic eye problems    - Conjunctivitis - an infection also known as pinkeye       Your best defense is to have regular checkups, because eye diseases do not always have symptoms. Early detection and treatment could prevent vision loss. See an eye care professional right away if you have a sudden change in vision, if everything looks dim, or if you see flashes of light. Other symptoms that need quick attention are pain, double vision, fluid coming from the eye, and inflammation.    NIH: National Eye Institute


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[User] What is (are) Lafora progressive myoclonus epilepsy ?

[Assistant] Lafora progressive myoclonus epilepsy is a brain disorder characterized by recurrent seizures (epilepsy) and a decline in intellectual function. The signs and symptoms of the disorder usually appear in late childhood or adolescence and worsen with time.  Myoclonus is a term used to describe episodes of sudden, involuntary muscle jerking or twitching that can affect part of the body or the entire body. Myoclonus can occur when an affected person is at rest, and it is made worse by motion, excitement, or flashing light (photic stimulation). In the later stages of Lafora progressive myoclonus epilepsy, myoclonus often occurs continuously and affects the entire body.  Several types of seizures commonly occur in people with Lafora progressive myoclonus epilepsy. Generalized tonic-clonic seizures (also known as grand mal seizures) affect the entire body, causing muscle rigidity, convulsions, and loss of consciousness. Affected individuals may also experience occipital seizures, which can cause temporary blindness and visual hallucinations. Over time, the seizures worsen and become more difficult to treat. A life-threatening seizure condition called status epilepticus may also develop. Status epilepticus is a continuous state of seizure activity lasting longer than several minutes.  About the same time seizures begin, intellectual function starts to decline. Behavioral changes, depression, confusion, and speech difficulties (dysarthria) are among the early signs and symptoms of this disorder. As the condition progresses, a continued loss of intellectual function (dementia) impairs memory, judgment, and thought. Affected people lose the ability to perform the activities of daily living by their mid-twenties, and they ultimately require comprehensive care. People with Lafora progressive myoclonus epilepsy generally survive up to 10 years after symptoms first appear.


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[User] How many people are affected by fibrochondrogenesis ?

[Assistant] Fibrochondrogenesis appears to be a rare disorder. About 20 affected individuals have been described in the medical literature.


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[User] What are the symptoms of Roberts syndrome ?

[Assistant] What are the signs and symptoms of Roberts syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Roberts syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Aplasia/Hypoplasia of the radius 90% Aplasia/Hypoplasia of the thumb 90% Bowing of the long bones 90% Clinodactyly of the 5th finger 90% Hypertelorism 90% Hypoplasia of the zygomatic bone 90% Intrauterine growth retardation 90% Microcephaly 90% Short stature 90% Underdeveloped nasal alae 90% Upper limb phocomelia 90% Abnormality of female external genitalia 50% Aplasia/Hypoplasia of the earlobes 50% Brachydactyly syndrome 50% Cataract 50% Cognitive impairment 50% Cryptorchidism 50% Long penis 50% Oral cleft 50% Premature birth 50% Proptosis 50% Radioulnar synostosis 50% Underdeveloped supraorbital ridges 50% Abnormality of the palate 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Blue sclerae 7.5% Craniosynostosis 7.5% Finger syndactyly 7.5% Glaucoma 7.5% Multicystic kidney dysplasia 7.5% Nystagmus 7.5% Patellar aplasia 7.5% Polyhydramnios 7.5% Sandal gap 7.5% Short neck 7.5% Single transverse palmar crease 7.5% Stillbirth 7.5% Synostosis of carpal bones 7.5% Thrombocytopenia 7.5% Abnormality of the metacarpal bones - Absent earlobe - Accessory spleen - Ankle contracture - Atria septal defect - Autosomal recessive inheritance - Bicornuate uterus - Biliary tract abnormality - Brachycephaly - Cafe-au-lait spot - Cleft eyelid - Cleft palate - Cleft upper lip - Clinodactyly - Clitoromegaly - Cranial nerve paralysis - Cystic hygroma - Elbow flexion contracture - Enlarged labia minora - Frontal encephalocele - High palate - Horseshoe kidney - Hydrocephalus - Hypospadias - Intellectual disability - Knee flexion contracture - Low-set ears - Malar flattening - Microphthalmia - Midface capillary hemangioma - Narrow naris - Oligodactyly (hands) - Opacification of the corneal stroma - Patent ductus arteriosus - Phocomelia - Polycystic kidney dysplasia - Posteriorly rotated ears - Postnatal growth retardation - Premature separation of centromeric heterochromatin - Radial deviation of finger - Severe intrauterine growth retardation - Shallow orbits - Sparse hair - Syndactyly - Talipes equinovalgus - Ventricular septal defect - Wide nasal bridge - Wrist flexion contracture - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What are the treatments for Mineral and Bone Disorder in Chronic Kidney Disease ?

[Assistant]
Treating mineral and bone disorder in CKD includes preventing damage to bones by controlling parathyroid hormone levels through changes in eating, diet, and nutrition; medications and supplements; and dialysis. If these treatments do not bring parathyroid hormone levels under control, a health care provider may remove a persons parathyroid glands surgically, a procedure called a parathyroidectomy.

Eating, Diet, and Nutrition

Changes in diet can treat mineral and bone disorder in CKD. Reducing dietary intake of phosphorus is one of the most important steps in preventing bone disease. Most foods contain phosphorus; however, processed and packaged foods contain especially high levels of phosphorus. Food producers use phosphorus as an additive to preserve the food on the shelf. People who have CKD or are on dialysis should avoid packaged foods containing ingredients that include the letters PHOS. A renal dietitian can help develop a dietary plan to control phosphorus levels in the blood. Some drinks and natural foods also contain high amounts of phosphorus, including

- beer  - cheese  - cocoa  - dark sodas  - dried beans  - milk  - nuts  - peanut butter  - peas

More information is provided in the NIDDK health topics, How To Read a Food Label: Tips for People with Chronic Kidney Disease and Phosphorus: Tips for People with Chronic Kidney Disease.

Medications and Supplements

Medications protect the bones by restoring the proper balance of minerals and hormones. If the kidneys do not make adequate amounts of calcitriol, a health care provider may prescribe synthetic calcitriol as a pill (Rocaltrol) or, for dialysis patients, in an injectable form (Calcijex). Calcitriol helps reduce parathyroid hormone levels. Medications called doxercalciferol (Hectorol) and paricalcitol (Zemplar) act like calcitriol because they are also activated forms of vitamin D. A health care provider may prescribe a calcium supplement in addition to calcitriol or another activated form of vitamin D.

Certain forms of vitamin Davailable by prescription or as over-the-counter vitamin supplementsrequire activation by a persons kidneys before they can act as calcitriol does. However, the benefits of some of these not-yet-activated forms of vitamin Dfor example, ergocalciferol (Calciferol, Drisdol) or cholecalciferol (Delta D3)are unclear. To help ensure coordinated and safe care, people should discuss their use of alternative medications, including use of vitamin and mineral supplements, with their health care provider.

Cinacalcet hydrochloride (Sensipar) belongs to another class of prescription medications called calcimimetics. Cinacalcet lowers parathyroid hormone levels by imitating calciums effects on the parathyroid gland. Generally, this medication is used only in people on dialysis.

Often, health care providers will prescribe medications called phosphate binderssuch as calcium carbonate (Tums), calcium acetate (PhosLo), sevelamer carbonate (Renvela), or lanthanum carbonate (Fosrenol)to take with meals and snacks to bind phosphorus in the bowel. These medications decrease the absorption of phosphorus into the blood.

Dialysis

Dialysis is the process of filtering wastes and extra fluid from the body by means other than the kidneys. The two forms of dialysis are hemodialysis and peritoneal dialysis:

- Hemodialysis uses a machine to circulate a persons blood through a filter outside the body. The blood passes from a patients body through a needle, at nearly 1 pint per minute. The blood then travels through a tube that takes it to the filter, called a dialyzer. Inside the dialyzer, the blood flows through thin fibers that filter out wastes and extra fluid. After the machine filters the blood, it passes back to the body through another tube. More information is provided in the NIDDK health topic, Treatment Methods for Kidney Failure: Hemodialysis.  - Peritoneal dialysis uses the lining of the abdomen to filter a persons blood inside the body. A soft tube called a catheter is placed in the patients abdomen a few weeks before peritoneal dialysis begins. A person uses the catheter to fill the empty space inside the abdomen with dialysis solutiona kind of salty waterfrom a plastic bag. While inside the body, the dialysis solution absorbs wastes and extra fluid. After a few hours, the person drains the used dialysis solution into another bag for disposal. The person then restarts the process with a fresh bag of dialysis solution. More information is provided in the NIDDK health topic, Treatment Methods for Kidney Failure: Peritoneal Dialysis.

Increasing a persons dialysis dose can help control the blood phosphorus level. In hemodialysis, the health care provider can adjust the dose by increasing how quickly the blood flows to and from the dialyzer. Another way to adjust the dose involves increasing the time of a persons dialysis session or the number of sessions. In peritoneal dialysis, using more dialysis solution in each fill or increasing the number of fills each day increases the dose. More information is provided in the NIDDK health topics:

- Hemodialysis Dose and Adequacy  - Peritoneal Dialysis Dose and Adequacy

Parathyroidectomy

If diet, medications, and dialysis cant control parathyroid hormone levels, a surgeon can remove one or more of the parathyroid glands. He or she performs the procedure using general anesthesia.

A good treatment program, including a low-phosphorus diet, appropriate medications, adequate dialysis, and, if necessary, surgery, can improve the bodys ability to repair bones damaged by mineral and bone disorder in CKD. Overall, people can improve their bone health by exercising and not smoking. People should consult a health care provider before beginning any exercise program.


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[User] What are the symptoms of Glycogen storage disease type 13 ?

[Assistant] What are the signs and symptoms of Glycogen storage disease type 13? Glycogen storage disease type 13 causes muscle pain (myalgia).  Individuals with GSD13 also experience exercise intolerance, which means they have difficulty exercising because they may have muscle weakness and tire easily. The Human Phenotype Ontology provides the following list of signs and symptoms for Glycogen storage disease type 13. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adult onset - Autosomal recessive inheritance - Elevated serum creatine phosphokinase - Exercise intolerance - Increased muscle glycogen content - Myalgia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What are the symptoms of Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet ?

[Assistant] What are the signs and symptoms of Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet? The Human Phenotype Ontology provides the following list of signs and symptoms for Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Midline defect of the nose 90% Muscular hypotonia 90% Narrow forehead 90% Prominent metopic ridge 90% Trigonocephaly 90% Wide mouth 90% Autosomal recessive inheritance - Bifid nasal tip - Bifid nose - Brachycephaly - Broad metatarsal - Broad phalanx - Bulbous nose - Severe global developmental delay - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What is (are) succinate-CoA ligase deficiency ?

[Assistant] Succinate-CoA ligase deficiency is an inherited disorder that affects the early development of the brain and other body systems. One of the earliest signs of the disorder is very weak muscle tone (severe hypotonia), which appears in the first few months of life. Severe hypotonia delays the development of motor skills such as holding up the head and rolling over. Many affected children also have muscle weakness and reduced muscle mass, which prevents them from standing and walking independently.  Additional features of succinate-CoA ligase deficiency can include progressive abnormal curvature of the spine (scoliosis or kyphosis), uncontrolled movements (dystonia), severe hearing loss, and seizures beginning in childhood. In most affected children, a substance called methylmalonic acid builds up abnormally in the body and is excreted in urine (methylmalonic aciduria). Most children with succinate-CoA ligase deficiency also experience a failure to thrive, which means that they gain weight and grow more slowly than expected.  Succinate-CoA ligase deficiency causes breathing difficulties that often lead to recurrent infections of the respiratory tract. These infections can be life-threatening, and most people with succinate-CoA ligase deficiency live only into childhood or adolescence.  A few individuals with succinate-CoA ligase deficiency have had an even more severe form of the disorder known as fatal infantile lactic acidosis. Affected infants develop a toxic buildup of lactic acid in the body (lactic acidosis) in the first day of life, which leads to muscle weakness and breathing difficulties. Children with fatal infantile lactic acidosis usually live only a few days after birth.


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[User] How to diagnose Diabetic Kidney Disease ?

[Assistant]
People with diabetes should get regular screenings for kidney disease. The National Kidney Disease Education Program recommends the following:

- urine albumin-to-creatinine ratio measured at least once a year in all people with type 2 diabetes and people who have had type 1 diabetes for 5 years or more  - eGFR calculated at least once a year in all people with type 1 or type 2 diabetes


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[User] What are the treatments for hypercholesterolemia ?

[Assistant] These resources address the diagnosis or management of hypercholesterolemia:  - Gene Review: Gene Review: Familial Hypercholesterolemia  - GeneFacts: Familial Hypercholesterolemia: Diagnosis  - GeneFacts: Familial Hypercholesterolemia: Management  - Genetic Testing Registry: Familial hypercholesterolemia  - Genetic Testing Registry: Hypercholesterolemia, autosomal dominant, 3  - Genetic Testing Registry: Hypercholesterolemia, autosomal dominant, type B  - Genetic Testing Registry: Hypercholesterolemia, autosomal recessive  - Genomics Education Programme (UK)  - MedlinePlus Encyclopedia: Familial hypercholesterolemia  - MedlinePlus Encyclopedia: High blood cholesterol and triglycerides  - MedlinePlus Encyclopedia: Xanthoma   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] What is (are) Attention Deficit Hyperactivity Disorder ?

[Assistant] Is it hard for your child to sit still? Does your child act without thinking first? Does your child start but not finish things? If so, your child may have attention deficit hyperactivity disorder (ADHD). Nearly everyone shows some of these behaviors at times, but ADHD lasts more than 6 months and causes problems in school, at home and in social situations.    ADHD is more common in boys than girls. It affects 3-5 percent of all American children.    The main features of ADHD are       - Inattention    - Hyperactivity    - Impulsivity       No one knows exactly what causes ADHD. It sometimes runs in families, so genetics may be a factor. There may also be environmental factors.    A complete evaluation by a trained professional is the only way to know for sure if your child has ADHD. Treatment may include medicine to control symptoms, therapy, or both. Structure at home and at school is important. Parent training may also help.    NIH: National Institute of Mental Health


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[User] What are the stages of Melanoma ?

[Assistant]
Key Points
                    - After melanoma has been diagnosed, tests are done to find out if cancer cells have spread within the skin or to other parts of the body.     - There are three ways that cancer spreads in the body.    - Cancer may spread from where it began to other parts of the body.    - The method used to stage melanoma is based mainly on the thickness of the tumor and whether cancer has spread to lymph nodes or other parts of the body.    - The following stages are used for melanoma:         - Stage 0 (Melanoma in Situ)      - Stage I     - Stage II      - Stage III      - Stage IV

                    After melanoma has been diagnosed, tests are done to find out if cancer cells have spread within the skin or to other parts of the body.
                    The process used to find out whether cancer has spread within the skin or to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. It is important to know the stage in order to plan treatment.    The following tests and procedures may be used in the staging process:         -   Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken.    -   Lymph node mapping and sentinel lymph node biopsy : Procedures in which a radioactive substance and/or blue dye is injected near the tumor. The substance or dye flows through lymph ducts to the sentinel node or nodes (the first lymph node or nodes where cancer cells are likely to spread). The surgeon removes only the nodes with the radioactive substance or dye. A pathologist views a sample of tissue under a microscope to check for cancer cells. If no cancer cells are found, it may not be necessary to remove more nodes.     -   CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. For melanoma, pictures may be taken of the chest, abdomen, and pelvis.    -   PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do.    -   MRI (magnetic resonance imaging) with gadolinium : A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body, such as the brain. A substance called gadolinium is injected into a vein. The gadolinium collects around the cancer cells so they show up brighter in the picture. This procedure is also called nuclear magnetic resonance imaging (NMRI).    -   Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs and tissues in the body. For melanoma, the blood is checked for an enzyme called lactate dehydrogenase (LDH). LDH levels that are higher than normal may be a sign of melanoma.        The results of these tests are viewed together with the results of the tumor biopsy to find out the stage of the melanoma.

                    There are three ways that cancer spreads in the body.
                    Cancer can spread through tissue, the lymph system, and the blood:         - Tissue. The cancer spreads from where it began by growing into nearby areas.     - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body.     - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body.

                    Cancer may spread from where it began to other parts of the body.
                    When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood.         - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body.    - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body.        The metastatic tumor is the same type of cancer as the primary tumor. For example, if melanoma spreads to the lung, the cancer cells in the lung are actually melanoma cells. The disease is metastatic melanoma, not lung cancer.

                    The method used to stage melanoma is based mainly on the thickness of the tumor and whether cancer has spread to lymph nodes or other parts of the body.
                    The staging of melanoma depends on the following:         - The thickness of the tumor. The thickness is described using the Breslow scale.    -  Whether the tumor is ulcerated (has broken through the skin).    - Whether the tumor has spread to the lymph nodes and if the lymph nodes are joined together (matted).    - Whether the tumor has spread to other parts of the body.

                    The following stages are used for melanoma:
                    Stage 0 (Melanoma in Situ)      In stage 0, abnormal melanocytes are found in the epidermis. These abnormal melanocytes may become cancer and spread into nearby normal tissue. Stage 0 is also called melanoma in situ.        Stage I      In stage I, cancer has formed. Stage I is divided into stages IA and IB.            -  Stage IA: In stage IA, the tumor is not more than 1 millimeter thick, with no ulceration.     -  Stage IB: In stage IB, the tumor is either:                   -  not more than 1 millimeter thick and it has ulceration; or       -  more than 1 but not more than 2 millimeters thick, with no ulceration.                          Stage II       Stage II is divided into stages IIA, IIB, and IIC.            -  Stage IIA: In stage IIA, the tumor is either:                   - more than 1 but not more than 2 millimeters thick, with ulceration; or       - more than 2 but not more than 4 millimeters thick, with no ulceration.                  -  Stage IIB: In stage IIB, the tumor is either:                   - more than 2 but not more than 4 millimeters thick, with ulceration; or       - more than 4 millimeters thick, with no ulceration.                 -  Stage IIC: In stage IIC, the tumor is more than 4 millimeters thick, with ulceration.               Stage III      In stage III, the tumor may be any thickness, with or without ulceration. One or more of the following is true:             -  Cancer has spread to one or more lymph nodes.     - Lymph nodes are joined together (matted).     - Cancer is in a lymph vessel between the primary tumor and nearby lymph nodes. The cancer is more than 2 centimeters away from the primary tumor.     - Very small tumors are found on or under the skin, not more than 2 centimeters away from the primary tumor.              Stage IV      In stage IV, the cancer has spread to other places in the body, such as the lung, liver, brain, bone, soft tissue, or gastrointestinal (GI) tract. Cancer may have spread to places in the skin far away from where it first started.


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[User] Is Nance-Horan syndrome inherited ?

[Assistant] How is Nance-Horan syndrome inherited? Nance-Horan syndrome is inherited as an X-linked dominant trait. In X-linked dominant inheritance, both males and females can be affected by a condition. However, affected males tend to have more severe features than females. X-linked conditions result from mutations of a gene located on an X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. In females, disease traits resulting from the abnormal copy of a gene on one X chromosome can be 'masked' by the normal copy of the gene on the other X chromosome. Because only one functioning X chromosome is required in males and females, one of the X chromosomes in each cell of a female is essentially 'turned off,' usually in a random pattern (X chromosome inactivation). Therefore, if the X chromosome with the gene mutation is activated in some cells, female carriers may have some mild features of the disorder. However, since males only have one X chromosome, they will likely fully express a condition if they inherit a gene mutation that is located on the X chromosome.


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[User] What is (are) Melioidosis ?

[Assistant] Melioidosis is an infectious disease caused by the bacteria Burkholderia pseudomallei that are commonly found in the soil and water. Melioidosis is a rare disease in the United States, but it is common in tropical or subtropical areas of the world, including Southeast Asia, Africa, and Australia. The signs and symptoms of the disease can vary greatly and may mimic those of tuberculosis or common forms of pneumonia. Signs and symptoms may include pain or swelling, fever, abscess, cough, high fever, headache, trouble breathing, and more. Although healthy people can also experience signs and symptoms of the disease, people with certain conditions like diabetes, liver disease, kidney disease, lung disease, thalassemia, cancer, or certain autoimmune diseases are more severely affected. Diagnosis is made by collecting blood, sputum, urine, or pus samples and growing the bacteria. Current treatment is divided into two stages: an intravenous (IV) antibiotic stage and oral antibiotic maintenance stage to prevent recurrence.


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[User] What is (are) Myhre syndrome ?

[Assistant] Myhre syndrome is a condition with features affecting many systems and functions of the body.  People with Myhre syndrome usually have delayed development of language and motor skills such as crawling and walking. Most have intellectual disability that ranges from mild to moderate. Some have behavioral issues such as features of autism or related developmental disorders affecting communication and social interaction.  People with Myhre syndrome often have hearing loss, which can be caused by changes in the inner ear (sensorineural deafness), changes in the middle ear (conductive hearing loss), or both (mixed hearing loss).  Growth is reduced in people with this disorder, beginning before birth and continuing through adolescence. Affected individuals have a low birth weight and are generally shorter than about 97 percent of their peers throughout life.  People with Myhre syndrome typically have stiffness of the skin and are usually described as having a muscular appearance. Skeletal abnormalities associated with this disorder include thickening of the skull bones, flattened bones of the spine (platyspondyly), broad ribs, underdevelopment of the winglike structures of the pelvis (hypoplastic iliac wings), and unusually short fingers and toes (brachydactyly). Affected individuals often have joint problems (arthropathy), including stiffness and limited mobility.  Typical facial features in people with Myhre syndrome include narrow openings of the eyelids (short palpebral fissures), a shortened distance between the nose and upper lip (a short philtrum), a sunken appearance of the middle of the face (midface hypoplasia), a small mouth with a thin upper lip, and a protruding jaw (prognathism). Some affected individuals also have an opening in the roof of the mouth (a cleft palate), a split in the lip (a cleft lip), or both.  Other features that occur in some people with this disorder include constriction of the throat (laryngotracheal stenosis), high blood pressure (hypertension), heart or eye abnormalities, and in males, undescended testes (cryptorchidism).  A disorder sometimes called laryngotracheal stenosis, arthropathy, prognathism, and short stature (LAPS) syndrome is now generally considered to be the same condition as Myhre syndrome because it has similar symptoms and the same genetic cause.


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[User] What is (are) Breathing Problems ?

[Assistant] When you're short of breath, it's hard or uncomfortable for you to take in the oxygen your body needs. You may feel as if you're not getting enough air. Sometimes mild breathing problems are from a stuffy nose or hard exercise. But shortness of breath can also be a sign of a serious disease.    Many conditions can make you feel short of breath. Lung conditions such as asthma, emphysema or pneumonia cause breathing difficulties. So can problems with your trachea or bronchi, which are part of your airway system. Heart disease can make you feel breathless if your heart cannot pump enough blood to supply oxygen to your body. Stress caused by anxiety can also make it hard for you to breathe. If you often have trouble breathing, it is important to find out the cause.


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[User] What are the symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type E ?

[Assistant] What are the signs and symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type E? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant intermediate Charcot-Marie-Tooth disease type E. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Stage 5 chronic kidney disease 5% Areflexia - Autosomal dominant inheritance - Axonal loss - Distal lower limb amyotrophy - Distal muscle weakness - Distal sensory impairment - Distal upper limb amyotrophy - Focal segmental glomerulosclerosis - Foot dorsiflexor weakness - Hammertoe - Hyporeflexia - Onion bulb formation - Pes cavus - Progressive - Proteinuria - Split hand - Steppage gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What are the genetic changes related to Stargardt macular degeneration ?

[Assistant] In most cases, Stargardt macular degeneration is caused by mutations in the ABCA4 gene. Less often, mutations in the ELOVL4 gene cause this condition. The ABCA4 and ELOVL4 genes provide instructions for making proteins that are found in light-sensing (photoreceptor) cells in the retina.  The ABCA4 protein transports potentially toxic substances out of photoreceptor cells. These substances form after phototransduction, the process by which light entering the eye is converted into electrical signals that are transmitted to the brain. Mutations in the ABCA4 gene prevent the ABCA4 protein from removing toxic byproducts from photoreceptor cells. These toxic substances build up and form lipofuscin in the photoreceptor cells and the surrounding cells of the retina, eventually causing cell death. Loss of cells in the retina causes the progressive vision loss characteristic of Stargardt macular degeneration.  The ELOVL4 protein plays a role in making a group of fats called very long-chain fatty acids. The ELOVL4 protein is primarily active (expressed) in the retina, but is also expressed in the brain and skin. The function of very long-chain fatty acids within the retina is unknown. Mutations in the ELOVL4 gene lead to the formation of ELOVL4 protein clumps (aggregates) that build up and may interfere with retinal cell functions, ultimately leading to cell death.


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[User] Is thrombotic thrombocytopenic purpura inherited ?

[Assistant] The familial form of thrombotic thrombocytopenic purpura is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.  The acquired form of thrombotic thrombocytopenic purpura is not inherited.


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[User] Is Multiple familial trichoepithelioma inherited ?

[Assistant] How is multiple familial trichoepithelioma inherited? Susceptibility to multiple familial trichoepithelioma has an autosomal dominant pattern of inheritance. This means that one copy of the altered gene in each cell increases the risk that a person will develop the condition. However, a second, non-inherited mutation is needed for development of the skin tumors characteristic of this condition.


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[User] What are the genetic changes related to alpha-mannosidosis ?

[Assistant] Mutations in the MAN2B1 gene cause alpha-mannosidosis. This gene provides instructions for making the enzyme alpha-mannosidase. This enzyme works in the lysosomes, which are compartments that digest and recycle materials in the cell. Within lysosomes, the enzyme helps break down complexes of sugar molecules (oligosaccharides) attached to certain proteins (glycoproteins). In particular, alpha-mannosidase helps break down oligosaccharides containing a sugar molecule called mannose.  Mutations in the MAN2B1 gene interfere with the ability of the alpha-mannosidase enzyme to perform its role in breaking down mannose-containing oligosaccharides. These oligosaccharides accumulate in the lysosomes and cause cells to malfunction and eventually die. Tissues and organs are damaged by the abnormal accumulation of oligosaccharides and the resulting cell death, leading to the characteristic features of alpha-mannosidosis.


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[User] What are the symptoms of Chiari malformation ?

[Assistant] What are the signs and symptoms of Chiari malformation? The Human Phenotype Ontology provides the following list of signs and symptoms for Chiari malformation. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Areflexia of upper limbs - Arnold-Chiari type I malformation - Autosomal dominant inheritance - Babinski sign - Basilar impression - Diplopia - Dysarthria - Dysphagia - Gait ataxia - Headache - Hearing impairment - Hyperacusis - Limb muscle weakness - Lower limb hyperreflexia - Lower limb spasticity - Nystagmus - Paresthesia - Photophobia - Scoliosis - Small flat posterior fossa - Syringomyelia - Tinnitus - Unsteady gait - Urinary incontinence - Vertigo - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What are the genetic changes related to STING-associated vasculopathy with onset in infancy ?

[Assistant] SAVI is caused by mutations in the TMEM173 gene. This gene provides instructions for making a protein called STING, which is involved in immune system function. STING helps produce beta-interferon, a member of a class of proteins called cytokines that promote inflammation.  The TMEM173 gene mutations that cause SAVI are described as "gain-of-function" mutations because they enhance the activity of the STING protein, leading to overproduction of beta-interferon. Abnormally high beta-interferon levels cause excessive inflammation that results in tissue damage, leading to the signs and symptoms of SAVI.


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[User] What is (are) Alstrm syndrome ?

[Assistant] Alstrm syndrome is a rare condition that affects many body systems. Many of the signs and symptoms of this condition begin in infancy or early childhood, although some appear later in life.  Alstrm syndrome is characterized by a progressive loss of vision and hearing, a form of heart disease that enlarges and weakens the heart muscle (dilated cardiomyopathy), obesity, type 2 diabetes mellitus (the most common form of diabetes), and short stature. This disorder can also cause serious or life-threatening medical problems involving the liver, kidneys, bladder, and lungs. Some individuals with Alstrm syndrome have a skin condition called acanthosis nigricans, which causes the skin in body folds and creases to become thick, dark, and velvety. The signs and symptoms of Alstrm syndrome vary in severity, and not all affected individuals have all of the characteristic features of the disorder.


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[User] What is (are) Bladder cancer ?

[Assistant] Bladder cancer is a form of cancer that occurs due to abnormal and uncontrolled cell growth in the bladder. Signs and symptoms of the condition may include abdominal pain, blood in the urine, fatigue, painful urination, frequent urination, incontinence, and/or weightloss. Most cases of bladder cancer occur sporadically in people with no family history of the condition. Risk factors for the condition include smoking, exposure to certain chemicals, and having chronic bladder infections. Treatment varies based on the severity of the condition and may include surgery, radiation therapy, chemotherapy, and/or biological therapy.


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[User] What are the treatments for oculocutaneous albinism ?

[Assistant] These resources address the diagnosis or management of oculocutaneous albinism:  - Gene Review: Gene Review: Oculocutaneous Albinism Type 1  - Gene Review: Gene Review: Oculocutaneous Albinism Type 2  - Gene Review: Gene Review: Oculocutaneous Albinism Type 4  - Genetic Testing Registry: Oculocutaneous albinism  - MedlinePlus Encyclopedia: Albinism   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] Who is at risk for Parasites - Toxocariasis (also known as Roundworm Infection)? ?

[Assistant]
Infected dogs and cats shed Toxocara eggs in their feces into the environment. Once in the environment, it takes 2 to 4 weeks for Toxocara larvae to develop and for the eggs to become infectious. Humans or other animals can be infected by accidentally ingesting Toxocara eggs. For example, humans can become infected if they work with dirt and accidentally ingest dirt containing Toxocara eggs. Although rare, people can be infected by eating undercooked or raw meat from an infected animal such as a lamb or rabbit. Because dogs and cats are frequently found where people live, there may be large numbers of infected eggs in the environment. Once in the body, the Toxocara eggs hatch and roundworm larvae can travel in the bloodstream to different parts of the body, including the liver, heart, lungs, brain, muscles, or eyes. Most infected people do not have any symptoms. However, in some people, the Toxocara larvae can cause damage to these tissues and organs. The symptoms of toxocariasis, the disease caused by these migrating larvae, include fever, coughing, inflammation of the liver, or eye problems.

A U.S. study in 1996 showed that 30% of dogs younger than 6 months deposit Toxocara eggs in their feces; other studies have shown that almost all puppies are born already infected with Toxocara canis. Research also suggests that 25% of all cats are infected with Toxocara cati. Infection rates are higher for dogs and cats that are left outside for more time and allowed to eat other animals. In humans, it has been found that almost 14% of the U.S. population has been infected with Toxocara. Globally, toxocariasis is found in many countries, and prevalence rates can reach as high as 40% or more in parts of the world. There are several factors that have been associated with higher rates of infection with Toxocara. People are more likely to be infected with Toxocara if they own a dog. Children and adolescents under the age of 20 are more likely to test positive for Toxocara infection. This may be because children are more likely to eat dirt and play in outdoor environments, such as sandboxes, where dog and cat feces can be found. This infection is more common in people living in poverty. Geographic location plays a role as well, because Toxocara is more prevalent in hot, humid regions where eggs are kept viable in the soil.


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[User] What are the symptoms of Gastric lymphoma ?

[Assistant] What are the signs and symptoms of Gastric lymphoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Gastric lymphoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Gastric lymphoma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What is (are) mevalonate kinase deficiency ?

[Assistant] Mevalonate kinase deficiency is a condition characterized by recurrent episodes of fever, which typically begin during infancy. Each episode of fever lasts about 3 to 6 days, and the frequency of the episodes varies among affected individuals. In childhood the fevers seem to be more frequent, occurring as often as 25 times a year, but as the individual gets older the episodes occur less often.  Mevalonate kinase deficiency has additional signs and symptoms, and the severity depends on the type of the condition. There are two types of mevalonate kinase deficiency: a less severe type called hyperimmunoglobulinemia D syndrome (HIDS) and a more severe type called mevalonic aciduria (MVA).  During episodes of fever, people with HIDS typically have enlargement of the lymph nodes (lymphadenopathy), abdominal pain, joint pain, diarrhea, skin rashes, and headache. Occasionally they will have painful sores called aphthous ulcers around their mouth. In females, these may also occur around the vagina. A small number of people with HIDS have intellectual disability, problems with movement and balance (ataxia), eye problems, and recurrent seizures (epilepsy). Rarely, people with HIDS develop a buildup of protein deposits (amyloidosis) in the kidneys that can lead to kidney failure. Fever episodes in individuals with HIDS can be triggered by vaccinations, surgery, injury, or stress. Most people with HIDS have abnormally high levels of immune system proteins called immunoglobulin D (IgD) and immunoglobulin A (IgA) in the blood. It is unclear why people with HIDS have high levels of IgD and IgA. Elevated levels of these immunoglobulins do not appear to cause any signs or symptoms. Individuals with HIDS do not have any signs and symptoms of the condition between fever episodes and typically have a normal life expectancy.  People with MVA have signs and symptoms of the condition at all times, not just during episodes of fever. Affected children have developmental delay, progressive ataxia, progressive problems with vision, and failure to gain weight and grow at the expected rate (failure to thrive). Individuals with MVA typically have an unusually small, elongated head. In childhood or adolescence, affected individuals may develop eye problems such as inflammation of the eye (uveitis), a blue tint in the white part of the eye (blue sclera), an eye disorder called retinitis pigmentosa that causes vision loss, or clouding of the lens of the eye (cataracts). Affected adults may have short stature and may develop muscle weakness (myopathy) later in life. During fever episodes, people with MVA may have an enlarged liver and spleen (hepatosplenomegaly), lymphadenopathy, abdominal pain, diarrhea, and skin rashes. Children with MVA who are severely affected with multiple problems may live only into early childhood; mildly affected individuals may have a normal life expectancy.


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[User] What is (are) 1q21.1 microdeletion ?

[Assistant] 1q21.1 microdeletion is a chromosomal change in which a small piece of chromosome 1 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome in a region designated q21.1. This chromosomal change increases the risk of delayed development, intellectual disability, physical abnormalities, and neurological and psychiatric problems. However, some people with a 1q21.1 microdeletion do not appear to have any associated features.  About 75 percent of all children with a 1q21.1 microdeletion have delayed development, particularly affecting the development of motor skills such as sitting, standing, and walking. The intellectual disability and learning problems associated with this genetic change are usually mild.  Distinctive facial features can also be associated with 1q21.1 microdeletions. The changes are usually subtle and can include a prominent forehead; a large, rounded nasal tip; a long space between the nose and upper lip (philtrum); and a high, arched roof of the mouth (palate). Other common signs and symptoms of 1q21.1 microdeletions include an unusually small head (microcephaly), short stature, and eye problems such as clouding of the lenses (cataracts). Less frequently, 1q21.1 microdeletions are associated with heart defects, abnormalities of the genitalia or urinary system, bone abnormalities (particularly in the hands and feet), and hearing loss.  Neurological problems that have been reported in people with a 1q21.1 microdeletion include seizures and weak muscle tone (hypotonia). Psychiatric or behavioral problems affect a small percentage of people with this genetic change. These include developmental conditions called autism spectrum disorders that affect communication and social interaction, attention deficit hyperactivity disorder (ADHD), and sleep disturbances. Studies suggest that deletions of genetic material from the 1q21.1 region may also be risk factors for schizophrenia.  Some people with a 1q21.1 microdeletion do not have any of the intellectual, physical, or psychiatric features described above. In these individuals, the microdeletion is often detected when they undergo genetic testing because they have a relative with the chromosomal change. It is unknown why 1q21.1 microdeletions cause cognitive and physical changes in some individuals but few or no health problems in others, even within the same family.


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[User] What is (are) Dowling-Degos disease ?

[Assistant] 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.


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[User] What is (are) What I need to know about Kidney Failure and How Its Treated ?

[Assistant]
A kidney transplant places a healthy kidney from another person into your body. The kidney may come from someone who has just died. Your doctor will place your name on a waiting list for a kidney. A family member or friend might be able to give you a kidney. Then you dont have to wait.

Once it is placed inside your body, the new kidney takes over filtering your blood. The damaged kidneys usually stay where they are. The new kidney is placed in the front-lower abdomen, on one side of the bladder. Your body normally attacks anything that shouldnt be there, such as bacteria. The body will think the new kidney shouldnt be there. You will take medicines called immunosuppressants to keep your body from attacking the new kidney.

More information is provided in the NIDDK health topics:

- Treatment Methods for Kidney Failure: Hemodialysis  - Home Hemodialysis  - Treatment Methods for Kidney Failure: Peritoneal Dialysis  - Treatment Methods for Kidney Failure: Transplantation


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[User] What are the symptoms of Succinic acidemia ?

[Assistant] What are the signs and symptoms of Succinic acidemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Succinic acidemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Lactic acidosis - Respiratory distress - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What are the symptoms of Subcortical band heterotopia ?

[Assistant] What are the signs and symptoms of Subcortical band heterotopia? The Human Phenotype Ontology provides the following list of signs and symptoms for Subcortical band heterotopia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Seizures 90% Hypertonia 50% Muscular hypotonia 50% Agenesis of corpus callosum - Ataxia - Death in infancy - Dysarthria - Incomplete penetrance - Infantile onset - Intellectual disability - Lissencephaly - Micropenis - Motor delay - Muscular hypotonia of the trunk - Nystagmus - Pachygyria - Postnatal growth retardation - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What are the treatments for alpha thalassemia ?

[Assistant] These resources address the diagnosis or management of alpha thalassemia:  - Gene Review: Gene Review: Alpha-Thalassemia  - Genetic Testing Registry: alpha Thalassemia  - MedlinePlus Encyclopedia: Thalassemia  - University of California, San Francisco Fetal Treatment Center: Stem Cell Treatments   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] Is Smith-Magenis syndrome inherited ?

[Assistant] Smith-Magenis syndrome is typically not inherited. This condition usually results from a genetic change that occurs during the formation of reproductive cells (eggs or sperm) or in early fetal development. Most often, people with Smith-Magenis syndrome have no history of the condition in their family.


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[User] What is (are) Schizencephaly ?

[Assistant] Schizencephaly is a rare congenital (present from birth) brain malformation in which abnormal slits or clefts form in the cerebral hemispheres of the brain. The signs and symptoms of this condition may include developmental delay, seizures, and problems with brain-spinal cord communication. Affected people may also have an abnormally small head (microcephaly); hydrocephalus; intellectual disability; partial or complete paralysis; and/or poor muscle tone (hypotonia). Severity of symptoms depends on many factors including the extent of the clefting and whether or not other brain abnormalities are present. Although the exact cause of schizencephaly is unknown, it has been linked to a variety of genetic and non-genetic factors. Treatment generally consists of physical therapy and drugs to prevent seizures. In cases that are complicated by hydrocephalus, a surgically implanted tube, called a shunt, is often used to divert fluid to another area of the body where it can be absorbed.


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[User] What are the treatments for Kidney Disease ?

[Assistant] Dialysis is a treatment to filter wastes and water from your blood. There are two major forms of dialysis: hemodialysis and peritoneal dialysis. (Watch the video to learn more about dialysis. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) In hemodialysis, blood is run through a filter outside of your body and the clean blood is returned to the body. Hemodialysis is usually done at a dialysis center three times a week, but it can also be done at home. Each session usually lasts between three and four hours. Peritoneal dialysis is another way to remove wastes from your blood. This kind of dialysis uses the lining of your abdominal cavity (the space in your body that holds organs like the stomach, intestines, and liver) to filter your blood. It works by putting a special fluid into your abdomen that absorbs waste products in your blood as it passes through small blood vessels in this lining. This fluid is then drained away. A key benefit of peritoneal dialysis is that it can be done at home, while you sleep.  Get more information about dialysis.


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[User] What are the genetic changes related to Brooke-Spiegler syndrome ?

[Assistant] Brooke-Spiegler syndrome is caused by mutations in the CYLD gene. This gene provides instructions for making a protein that helps regulate nuclear factor-kappa-B. Nuclear factor-kappa-B is a group of related proteins that help protect cells from self-destruction (apoptosis) in response to certain signals. In regulating the action of nuclear factor-kappa-B, the CYLD protein allows cells to respond properly to signals to self-destruct when appropriate, such as when the cells become abnormal. By this mechanism, the CYLD protein acts as a tumor suppressor, which means that it helps prevent cells from growing and dividing too fast or in an uncontrolled way.  People with Brooke-Spiegler syndrome are born with a mutation in one of the two copies of the CYLD gene in each cell. This mutation prevents the cell from making functional CYLD protein from the altered copy of the gene. However, enough protein is usually produced from the other, normal copy of the gene to regulate cell growth effectively. For tumors to develop, a second mutation or deletion of genetic material involving the other copy of the CYLD gene must occur in certain cells during a person's lifetime.  When both copies of the CYLD gene are mutated in a particular cell, that cell cannot produce any functional CYLD protein. The loss of this protein allows the cell to grow and divide in an uncontrolled way to form a tumor. In people with Brooke-Spiegler syndrome, a second CYLD mutation typically occurs in multiple cells over an affected person's lifetime. The loss of CYLD protein in different types of cells in the skin leads to the growth of a variety of skin appendage tumors.  Some researchers consider Brooke-Spiegler syndrome and two related conditions called multiple familial trichoepithelioma and familial cylindromatosis, which are also caused by CYLD gene mutations, to be different forms of the same disorder. It is unclear why mutations in the CYLD gene cause different patterns of skin appendage tumors in each of these conditions, or why the tumors are generally confined to the skin in these disorders.


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[User] What is (are) Hereditary endotheliopathy, retinopathy, nephropathy, and stroke ?

[Assistant] Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) is a rare genetic condition that affects the vascular endothelium (the inner lining of the arteries and blood vessels). Specifically, the small blood vessels of the brain (microangiopathy); retina (vascular retinopathy); and kidneys are affected. Signs and symptoms may include progressive adult onset vision loss, psychiatric disturbances, stroke-like episodes, neurologic decline, and kidney disease. HERNS is inherited in an autosomal dominant manner. The term retinal vasculopathy with cerebral leukodystrophy (RVCL) has recently been adopted to include HERNS; cerebroretinal vasculopathy (CRV); and hereditary vascular retinopathy (HVR); historically, these 3 conditions have been considered distinct. Genetic studies have shown that these 3 conditions are likely variations of RVCL and are caused by mutations in the TREX1 gene.


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[User] What is (are) Leber hereditary optic neuropathy ?

[Assistant] Leber hereditary optic neuropathy (LHON) is an inherited form of vision loss. Although this condition usually begins in a person's teens or twenties, rare cases may appear in early childhood or later in adulthood. For unknown reasons, males are affected much more often than females.  Blurring and clouding of vision are usually the first symptoms of LHON. These vision problems may begin in one eye or simultaneously in both eyes; if vision loss starts in one eye, the other eye is usually affected within several weeks or months. Over time, vision in both eyes worsens with a severe loss of sharpness (visual acuity) and color vision. This condition mainly affects central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. Vision loss results from the death of cells in the nerve that relays visual information from the eyes to the brain (the optic nerve). Although central vision gradually improves in a small percentage of cases, in most cases the vision loss is profound and permanent.  Vision loss is typically the only symptom of LHON; however, some families with additional signs and symptoms have been reported. In these individuals, the condition is described as "LHON plus." In addition to vision loss, the features of LHON plus can include movement disorders, tremors, and abnormalities of the electrical signals that control the heartbeat (cardiac conduction defects). Some affected individuals develop features similar to multiple sclerosis, which is a chronic disorder characterized by muscle weakness, poor coordination, numbness, and a variety of other health problems.


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[User] How to diagnose Mnire's disease ?

[Assistant] How is Mnire's disease diagnosed? The hallmark of Mnire's disease is the fluctuation, waxing and waning of symptoms.  Proper diagnosis of Mnire's disease entails several procedures, including a medical history interview; a physical examination; hearing and balance tests; and medical imaging with magnetic resonance imaging (MRI). Accurate measurement and characterization of hearing loss are of critical importance in the diagnosis of Mnire's disease. Through the use of several types of hearing tests, physicians can characterize hearing loss as being sensory (arising from the inner ear) or neural (arising from the hearing nerve). Recording the auditory brain stem response, which measures electrical activity in the hearing nerve and brain stem, is useful in differentiating between these two types of hearing loss. Electrocochleography, recording the electrical activity of the inner ear in response to sound, helps confirm the diagnosis. To test the vestibular or balance system, physicians irrigate the ears with warm and cool water or air. This procedure, known as caloric testing, results in nystagmus, rapid eye movements that can help a physician analyze a balance disorder. Since tumor growth can produce symptoms similar to Mnire's disease, an MRI is a useful test to determine whether a tumor is causing the patient's vertigo and hearing loss.


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[User] Is Freeman-Sheldon syndrome inherited ?

[Assistant] Freeman-Sheldon syndrome can have different inheritance patterns. In some cases, the condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. The condition can also have an autosomal recessive inheritance pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.  In some cases, the inheritance pattern is unknown.


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[User] Is microcephaly-capillary malformation syndrome inherited ?

[Assistant] This condition has an autosomal recessive pattern of inheritance, which means both copies of the STAMBP gene in each cell have mutations. An affected individual usually inherits one altered copy of the gene from each parent. Parents of an individual with an autosomal recessive condition typically do not show signs and symptoms of the condition.  At least one individual with microcephaly-capillary malformation syndrome inherited two mutated copies of the STAMBP gene through a mechanism called uniparental isodisomy. In this case, an error occurred during the formation of egg or sperm cells, and the child received two copies of the mutated gene from one parent instead of one copy from each parent.