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 electrical impulses...

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 tissues in the...

Pompe Disease (also called Glycogen storage disease type 2)

Overview Pompe disease, also known as Glycogen storage disease type 2 is an inherited metabolic disorder caused by an inborn lack of the enzyme acid alpha-glucosidase (also known as acid maltase), which is necessary to break down glycogen, a substance that is a source...

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 in the hands...

Pantothenate Kinase-Associated Neurodegeneration (PKAN)

Overview Pantothenate kinase-associated neurodegeneration (PKAN), also known as neurodegeneration with brain iron accumulation 1 (NBIA1) and formerly called Hallervorden–Spatz syndrome (use of this eponym is somewhat discouraged due to Hallervorden and Spatz’s...

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 (inflammation of many...
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