umarjan11/Medical-qna huggingface dataset:
Question: What is (are) Buschke Ollendorff syndrome ?

Answer: Buschke Ollendorff syndrome (BOS) is a genetic condition of the connective tissue. Common signs and symptoms include non-cancerous skin lumps and spots of increased bone density (which can be seen on X-ray). Some people with BOS have both skin and bone symptoms, while others have one or the other.  Individual cases of BOS have occurred in association with joint pain, hearing disorders (e.g., otosclerosis), congenital spinal stenosis, craniosynostosis, and nail patella syndrome. Symptoms of BOS may begin at any age, but most often present before age 20. BOS is caused by mutations in the LEMD3 gene. The mutation results in a loss of protein (also named LEMD3) that results in the excessive formation of bone tissue. It is not clear how the LEMD3 mutations cause the skin lumps or other features of BOS.  BOS is inherited in an autosomal dominant fashion. Affected members of the same family can have very different symptoms.
Question: What is (are) Baller-Gerold syndrome ?

Answer: Baller-Gerold syndrome is a rare condition characterized by the premature fusion of certain skull bones (craniosynostosis) and abnormalities of bones in the arms and hands, sometimes referred to as radial ray anomalies. Many cases of Baller-Gerold syndrome are caused by mutations in the RECQL4 gene. These cases are inherited in an autosomal recessive manner. In a few reported cases, the characteristic features of Baller-Gerold syndrome have been associated with prenatal exposure to a drug called sodium valproate which is used to treat epilepsy and certain psychiatric disorders.  Treatment may include surgery for treatment of craniosynostosis or reconstruction of the index finger to functional thumb. The symptoms of Baller-Gerold syndrome overlap with features of Rothmund-Thomson syndrome and RAPADILINO syndrome which are also caused by the RECQL4 gene. Researchers are trying to determine if these conditions are separate disorders or part of a single syndrome with overlapping signs and symptoms.
Question: Is Larsen syndrome inherited ?

Answer: How is Larson syndrome inherited? Larson syndrome is inherited in an autosomal dominant manner. A condition is autosomal dominant when having one copy of the changed (mutated) gene in each cell is enough to cause signs or symptoms of the condition. In some cases, an affected person inherits the mutation from one affected parent; in other cases, a new mutation occurs for the first time in the affected person. While some authors have suggested autosomal recessive inheritance in families with affected siblings and unaffected parents, it was found that some of these children were affected due to germline mosaicism. This means that multiple siblings in a family inherited a disease-causing mutation from an unaffected parent who had the mutation in some or all of their egg or sperm cells only (not other body cells). This can cause a condition to appear autosomal recessive. Also, some other conditions with autosomal recessive inheritance and symptoms that overlap with Larsen syndrome have been diagnosed as Larsen syndrome, but are now mostly considered different conditions. These conditions are usually more severe and due to mutations in different genes.
Question: What is (are) Spastic diplegia cerebral palsy ?

Answer: Spastic diplegia cerebral palsy is a form of cerebral palsy, a neurological condition that usually appears in infancy or early childhood and permanently affects muscle control and coordination. Affected people have increased muscle tone which leads to spasticity (stiff or tight muscles and exaggerated reflexes) in the legs. The arm muscles are generally less affected or not affected at all. Other signs and symptoms may include delayed motor or movement milestones (i.e. rolling over, sitting, standing); walking on toes; and a "scissored" gait (style of walking). It occurs when the portion of the brain that controls movement is damaged or develops abnormally. The exact underlying cause is often unknown; however, the condition has been associated with genetic abnormalities; congenital brain malformations; maternal infections or fevers; and/or injury before, during or shortly after birth. There is no cure, and treatment options vary depending on the signs and symptoms present in each person and the severity of the condition.
Question: What is (are) Chronic active Epstein-Barr virus infection ?

Answer: Chronic active Epstein-Barr virus infection is a rare condition in which the body makes too many lymphocytes, a type of white blood cell. Lymphocytes are an important part of the immune system because they help fight off diseases and protect the body from infection. About 95% of adults are infected with Epstein-Barr virus (EBV). Most infections occur during childhood and do not cause any symptoms. EBV infection in adolescents or young adults can often result in infectious mononucleosis.  Rarely, people infected with EBV develop a life-threatening condition called chronic active EBV virus (CAEBV). Patients with CAEBV most often have fever, liver dysfunction, an enlarged spleen (splenomegaly), swollen lymph nodes (lymphadenopathy), and low numbers of platelets (thrombocytopenia). Hematopoietic stem cell transplantation has shown promise in the treatment of CAEBV.
Question: Is Sotos syndrome inherited ?

Answer: How is Sotos syndrome inherited? Sotos syndrome is inherited in an autosomal dominant manner. This means that having a mutation in only one of the 2 copies of the responsible gene (the NSD1 gene) is enough to cause signs and symptoms of the condition. 95% of people with Sotos syndrome do not inherit the condition from a parent. In these cases, the condition is the result of a new (de novo) mutation that occurred for the first time in the affected person. Only about 5% of people with Sotos syndrome have an affected parent and inherit the condition from that parent. If a parent of an affected person with an identified NSD1 mutation does not have any features of Sotos syndrome, that parent is very unlikely to have a mutation in the gene. This can be confirmed with genetic testing if the mutation has been identified in the child. If a person with Sotos syndrome has children, each child has a 50% (1 in 2) chance to inherit the mutation. However, the specific features and severity can vary from one generation to the next, so it is not possible to predict how a child will be affected.
Question: What are the treatments for Gorham's disease ?

Answer: How might Gorham disease be treated? No specific therapy exists for people with Gorham's disease. Certain treatments may be effective in some, but not others. Several different methods are often used before finding one that is effective. In some cases, treatment may not be necessary. Most people require intense treatment, especially if the disease has spread to other areas of the body or if there is extensive involvement in the spine and skull. Treatment options include radiation therapy, steroids, and/or surgery that may involve bone grafting. Other treatments might include biphosphonates (such as pamidronate or zoledronic acid) and alpha-2b interferon. These treatments have led to improvement of symptoms in some cases. More research is necessary to determine the long-term safety and effectiveness of these therapies in people with Gorham's disease.  All treatments (pharmacological and surgical) are all still considered to be experimental since there have been no studies done to examine the effectiveness of anything used to date. In general, no single treatment has been proven effective in stopping the progression of the disease.
Question: What is (are) Trigeminal Trophic Syndrome ?

Answer: Trigeminal trophic syndrome is a rare disease that affects the skin on the side of the nose, supplied by the trigeminal nerve. People with trigeminal trophic syndrome have a loss of sensation in the nose or abnormal sensations like tingling, numbness, or burning and they rub or scratch the skin causing cuts or ulcers in the area. When the cuts heal, they can cause scars that pull up the lip. Similar cuts may also occur in the corners of the eyes, scalp or inside the mouth. The tip of the nose is spared because its sensation comes from a different nerve. Trigeminal trophic syndrome may occur in people who were treated for trigeminal neuralgia or after leprosy (Hansen's disease) or shingles infection. Treatment options include medications, radiotherapy, and covering the wounds until they have fully healed. Another treatment option is a technique called transcutaneous electrical stimulation that uses a small electronic device to direct mild electric pulses to nerve endings that lie beneath the skin.
Question: Who is at risk for Thrombocythemia and Thrombocytosis? ?

Answer: Primary Thrombocythemia
                
Thrombocythemia isn't common. The exact number of people who have the condition isn't known. Some estimates suggest that 24 out of every 100,000 people have primary thrombocythemia.
                
Primary thrombocythemia is more common in people aged 50 to 70, but it can occur at any age. For unknown reasons, more women around the age of 30 have primary thrombocythemia than men of the same age.
                
Secondary Thrombocytosis
                
You might be at risk for secondary thrombocytosis if you have a disease, condition, or factor that can cause it. (For more information, go to "What Causes Thrombocythemia and Thrombocytosis?")
                
Secondary thrombocytosis is more common than primary thrombocythemia. Studies have shown that most people who have platelet counts over 500,000 have secondary thrombocytosis.
Question: What are the treatments for episodic ataxia ?

Answer: These resources address the diagnosis or management of episodic ataxia:  - Consortium for Clinical Investigations of Neurological Channelopathies (CINCH)  - Gene Review: Gene Review: Episodic Ataxia Type 1  - Gene Review: Gene Review: Episodic Ataxia Type 2  - Genetic Testing Registry: Episodic ataxia type 1  - Genetic Testing Registry: Episodic ataxia type 2  - Genetic Testing Registry: Episodic ataxia, type 3  - Genetic Testing Registry: Episodic ataxia, type 4  - Genetic Testing Registry: Episodic ataxia, type 7  - MedlinePlus Encyclopedia: Movement - uncoordinated  - MedlinePlus Encyclopedia: Vertigo-associated disorders   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
Question: What is (are) lattice corneal dystrophy type I ?

Answer: Lattice corneal dystrophy type I is an eye disorder that affects the clear, outer covering of the eye called the cornea. The cornea must remain clear for an individual to see properly; however, in lattice corneal dystrophy type I, protein clumps known as amyloid deposits cloud the cornea, which leads to vision impairment. The cornea is made up of several layers of tissue, and in lattice corneal dystrophy type I, the deposits form in the stromal layer. The amyloid deposits form as delicate, branching fibers that create a lattice pattern.  Affected individuals often have recurrent corneal erosions, which are caused by separation of particular layers of the cornea from one another. Corneal erosions are very painful and can cause sensitivity to bright light (photophobia). Lattice corneal dystrophy type I is usually bilateral, which means it affects both eyes. The condition becomes apparent in childhood or adolescence and leads to vision problems by early adulthood.
Question: What are the genetic changes related to Melnick-Needles syndrome ?

Answer: Mutations in the FLNA gene cause Melnick-Needles syndrome.  The FLNA gene provides instructions for producing the protein filamin A, which helps build the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and move. Filamin A binds to another protein called actin, and helps the actin to form the branching network of filaments that make up the cytoskeleton. Filamin A also links actin to many other proteins to perform various functions within the cell.  A small number of mutations in the FLNA gene have been identified in people with Melnick-Needles syndrome. These mutations are described as "gain-of-function" because they appear to enhance the activity of the filamin A protein or give the protein a new, atypical function. Researchers believe that the mutations may change the way the filamin A protein helps regulate processes involved in skeletal development, but it is not known how changes in the protein relate to the specific signs and symptoms of Melnick-Needles syndrome.
Question: What is (are) spastic paraplegia type 4 ?

Answer: Spastic paraplegia type 4 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. The pure types involve only the lower limbs, whereas the complex types also involve the upper limbs (to a lesser degree) and the nervous system. Spastic paraplegia type 4 is a pure hereditary spastic paraplegia.  Like all hereditary spastic paraplegias, spastic paraplegia type 4 involves spasticity of the leg muscles and muscle weakness. People with this condition can also experience exaggerated reflexes (hyperreflexia), ankle spasms, high-arched feet (pes cavus), and reduced bladder control. Spastic paraplegia type 4 generally affects nerve and muscle function in the lower half of the body only.
Question: What is (are) Ghosal hematodiaphyseal dysplasia ?

Answer: Ghosal hematodiaphyseal dysplasia is a rare inherited condition characterized by abnormally thick bones and a shortage of red blood cells (anemia). Signs and symptoms of the condition become apparent in early childhood.  In affected individuals, the long bones in the arms and legs are unusually dense and wide. The bone changes specifically affect the shafts of the long bones, called diaphyses, and areas near the ends of the bones called metaphyses. The bone abnormalities can lead to bowing of the legs and difficulty walking.  Ghosal hematodiaphyseal dysplasia also causes scarring (fibrosis) of the bone marrow, which is the spongy tissue inside long bones where blood cells are formed. The abnormal bone marrow cannot produce enough red blood cells, which leads to anemia.Signs and symptoms of anemia that have been reported in people with Ghosal hematodiaphyseal dysplasia include extremely pale skin (pallor) and excessive tiredness (fatigue).
Question: Is isolated Duane retraction syndrome inherited ?

Answer: Isolated Duane retraction syndrome usually occurs in people with no history of the disorder in their family. These cases are described as simplex, and their genetic cause is unknown.  Less commonly, isolated Duane retraction syndrome can run in families. Familial cases most often have an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. When isolated Duane retraction syndrome is caused by CHN1 mutations, it has an autosomal dominant inheritance pattern.  In a few families with isolated Duane retraction syndrome, the pattern of affected family members suggests autosomal recessive inheritance. In these families, one or more children are affected, although the parents typically have no signs or symptoms of the condition. The parents of children with an autosomal recessive condition are called carriers, which means they carry one mutated copy of a gene in each cell. In affected children, both copies of the gene in each cell are mutated. However, researchers have not discovered the gene or genes responsible for autosomal recessive isolated Duane retraction syndrome.
Question: What are the genetic changes related to gnathodiaphyseal dysplasia ?

Answer: Gnathodiaphyseal dysplasia is caused by mutations in the ANO5 gene, which provides instructions for making a protein called anoctamin-5. While the specific function of this protein is not well understood, it belongs to a family of proteins, called anoctamins, that act as chloride channels. Studies suggest that most anoctamin channels are turned on (activated) in the presence of positively charged calcium atoms (calcium ions); these channels are known as calcium-activated chloride channels. The mechanism for this calcium activation is unclear.  The ANO5 gene mutations that have been identified in people with gnathodiaphyseal dysplasia change single protein building blocks (amino acids) in the anoctamin-5 protein. It is unclear how these protein changes lead to the fragile bones, jaw problems, and other skeletal abnormalities that occur in gnathodiaphyseal dysplasia. Researchers suggest that the mutations may affect the way cells process calcium, an important mineral in bone development and growth.
Question: What are the genetic changes related to Salih myopathy ?

Answer: Salih myopathy is caused by mutations in the TTN gene. This gene provides instructions for making a protein called titin, which plays an important role in skeletal and cardiac muscle function.  Within muscle cells, titin is an essential component of structures called sarcomeres. Sarcomeres are the basic units of muscle contraction; they are made of proteins that generate the mechanical force needed for muscles to contract. Titin has several functions within sarcomeres. One of this protein's most important jobs is to provide structure, flexibility, and stability to these cell structures. Titin also plays a role in chemical signaling and in assembling new sarcomeres.  The TTN gene mutations responsible for Salih myopathy lead to the production of an abnormally short version of titin. The defective protein disrupts the function of sarcomeres, which prevents skeletal and cardiac muscle from contracting normally. These muscle abnormalities underlie the features of Salih myopathy, including skeletal muscle weakness and dilated cardiomyopathy.
Question: What is (are) congenital myasthenic syndrome ?

Answer: Congenital myasthenic syndrome is a group of conditions characterized by muscle weakness (myasthenia) that worsens with physical exertion. The muscle weakness typically begins in early childhood but can also appear in adolescence or adulthood. Facial muscles, including muscles that control the eyelids, muscles that move the eyes, and muscles used for chewing and swallowing, are most commonly affected. However, any of the muscles used for movement (skeletal muscles) can be affected in this condition. Due to muscle weakness, affected infants may have feeding difficulties. Development of motor skills such as crawling or walking may be delayed. The severity of the myasthenia varies greatly, with some people experiencing minor weakness and others having such severe weakness that they are unable to walk.  Some individuals have episodes of breathing problems that may be triggered by fevers or infection. Severely affected individuals may also experience short pauses in breathing (apnea) that can lead to a bluish appearance of the skin or lips (cyanosis).
Question: What are the treatments for surfactant dysfunction ?

Answer: These resources address the diagnosis or management of surfactant dysfunction:  - Children's Interstitial and Diffuse Lung Disease (chILD) Foundation: Surfactant Deficiency  - Genetic Testing Registry: Surfactant metabolism dysfunction, pulmonary, 1  - Genetic Testing Registry: Surfactant metabolism dysfunction, pulmonary, 2  - Genetic Testing Registry: Surfactant metabolism dysfunction, pulmonary, 4  - Genetic Testing Registry: Surfactant metabolism dysfunction, pulmonary, 5  - National Heart Lung and Blood Institute: How is Respiratory Distress Syndrome Diagnosed?  - National Heart Lung and Blood Institute: How is Respiratory Distress Syndrome Treated?   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
Question: What are the treatments for Joubert syndrome ?

Answer: These resources address the diagnosis or management of Joubert syndrome:  - Gene Review: Gene Review: Joubert Syndrome and Related Disorders  - Genetic Testing Registry: Familial aplasia of the vermis  - Genetic Testing Registry: Joubert syndrome 10  - Genetic Testing Registry: Joubert syndrome 2  - Genetic Testing Registry: Joubert syndrome 3  - Genetic Testing Registry: Joubert syndrome 4  - Genetic Testing Registry: Joubert syndrome 5  - Genetic Testing Registry: Joubert syndrome 6  - Genetic Testing Registry: Joubert syndrome 7  - Genetic Testing Registry: Joubert syndrome 8  - Genetic Testing Registry: Joubert syndrome 9   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
Question: What are the genetic changes related to Dubin-Johnson syndrome ?

Answer: Dubin-Johnson syndrome is caused by mutations in the ABCC2 gene. The ABCC2 gene provides instructions for making a protein called multidrug resistance protein 2 (MRP2). This protein acts as a pump to transport substances out of the liver, kidneys, intestine, or placenta so they can be excreted from the body. For example, MRP2 transports a substance called bilirubin out of liver cells and into bile (a digestive fluid produced by the liver). Bilirubin is produced during the breakdown of old red blood cells and has an orange-yellow tint.  ABCC2 gene mutations lead to a version of MRP2 that cannot effectively pump substances out of cells. These mutations particularly affect the transport of bilirubin into bile. As a result, bilirubin accumulates in the body, causing a condition called hyperbilirubinemia. The buildup of bilirubin in the body causes the yellowing of the skin and whites of the eyes seen in people with Dubin-Johnson syndrome.
Question: What is (are) Solitary Kidney ?

Answer: When a person has only one kidney or one working kidney, this kidney is called a solitary kidney. The three main causes of a solitary kidney are
                
- birth defects. People with kidney agenesis are born with only one kidney. People born with kidney dysplasia have both kidneys; however, one kidney does not function. Many people with kidney agenesis or kidney dysplasia do not discover that they have a solitary kidney until they have an x ray, an ultrasound, or surgery for an unrelated condition.  - surgical removal of a kidney. Some people must have a kidney removed to treat cancer or another disease or injury. When a kidney is removed surgically due to disease or for donation, both the kidney and ureter are removed.  - kidney donation. A growing number of people are donating a kidney to be transplanted into a family member or friend whose kidneys have failed.
                
In general, people with a solitary kidney lead full, healthy lives. However, some people are more likely to develop kidney disease.