Nervous System Diseases
- 22q11.2 Deletion Syndrome
22q11.2 deletion syndrome is a disorder that involves many different areas of the body and can vary greatly in severity among people with the condition.
- Antisynthetase Syndrome
Other Names: Anti-Jo1 syndrome; AS syndrome Antisynthetase syndrome is a chronic autoimmune disease that affects the muscles and other parts of the body. Signs and symptoms can vary but may include muscle inflammation (myositis), polyarthritis (inflamm …
- Batten Disease
Other Names: Neuronal ceroid lipofuscinosis, NCL Batten disease is a fatal, inherited disease of the nervous system that typically begins in childhood. Onset of symptoms is usually between 5 and 10 years of age, when parents or physicians may notice a …
- Charcot-Marie-Tooth Disease – Type 1A
Overview Charcot Mariet Tooth type 1a is the most common form of CMT, comprising around 66 percent of all patients with Charcot Marie Tooth type 1. It is an inherited neurological disease characterized by the gradual degeneration of nerves which starts …
- Eosinophilic Granulomatosis With Polyangiitis (EPGA)
Eosinophilic granulomatosis with polyangiitis (EGPA), also called Churg Strauss syndrome, is a rare, chronic disorder and a form of primary systemic autoimmune vasculitis characterized by inflammation of blood vessels.
- Fragile X Syndrome
Fragile X Syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females.
- Hemophagocytic lymphohistiocytosis
Hemophagocytic lymphohistiocytosis (HLH) is a condition in which the body makes too many activated immune cells (macrophages and lymphocytes).
- Hereditary ATTR Amyloidosis
Overview hATTR amyloidosis is an inherited, rapidly progressive, life-threatening disease.1-3 hATTR amyloidosis is caused by a mutation in the transthyretin (TTR) gene that results in misfolded TTR proteins accumulating as amyloid fibrils in multiple t …
- Hypokalemic Periodic Paralysis
Hypokalemic periodic paralysis (HOKPP) is characterized by episodes of muscle paralysis associated with a fall in blood potassium levels (hypokalemia).
- Lambert-Eaton Myasthenic Syndrome
Overview Lambert Eaton myasthenic syndrome is a disorder of the neuromuscular junction. The neuromuscular junction is the site where nerve cells meet muscle cells and help activate the muscles. This syndrome occurs when antibodies interfere with electr …