Hereditary spastic paraplegia (HSP) is a group of inherited neurological disorders characterized by progressive weakness and stiffness in the legs. It is caused by damage to the nerve cells in the spinal cord, leading to difficulty with walking and coordination. The severity of symptoms and age of onset can vary widely among individuals with HSP. […]
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Hereditary sensory and autonomic neuropathies (HSAN) are a group of genetic disorders that affect the sensory and autonomic nerves, resulting in a range of symptoms including loss of sensation, muscle weakness, and autonomic dysfunction. These conditions are rare and can have a significant impact on the individual’s quality of life. Unfortunately, there is currently no
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Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare genetic condition that is characterized by the development of smooth muscle tumors in the skin, uterus, and/or digestive system, and an increased risk of developing renal cell cancer. HLRCC is caused by mutations in the FH gene, which is responsible for producing an enzyme that
Hereditary hemorrhagic telangiectasia (HHT) is a genetic disorder that causes abnormal blood vessel formation in various parts of the body, most commonly in the nose, skin, and gastrointestinal tract. This can lead to recurrent nosebleeds, skin lesions, and potentially life-threatening internal bleeding. The condition is caused by mutations in certain genes that are involved in
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Hepatic encephalopathy is a neurological condition that occurs due to liver dysfunction. It is characterized by a decline in brain function, including mental confusion, personality changes, and in severe cases, coma. The condition is commonly seen in patients with liver cirrhosis and liver failure, as the liver is unable to remove toxins from the blood,
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