by CheckRare Staff | Nov 10, 2017
The congenital myasthenic syndromes (CMS) are a diverse group of genetic disorders caused by abnormal signal transmission at the motor endplate, a special synaptic contact between motor axons and each skeletal muscle fibre. Most CMS stem from molecular defects in the...
by CheckRare Staff | Nov 4, 2017
Mucopolysaccharidosis type 1 (MPS I) is a condition that affects many parts of the body. It is a progressively debilitating disorder; however, the rate of progression varies among affected individuals. MPS I is caused by mutations in the IDUA gene. These mutations...
by CheckRare Staff | Nov 2, 2017
Charcot Marie 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 and feet and...
by CheckRare Staff | Nov 2, 2017
Bile acid synthesis disorders (BASDs) due to single enzyme defects are a group of rare genetic disorders that affect the enzymes responsible for making normal, healthy bile acids. A mutation, or change, in one’s DNA prevents formation of normal bile acids and causes...
by CheckRare Staff | Nov 2, 2017
Focal segmental glomerulosclerosis (FSGS) is a cause of nephrotic syndrome in children and adolescents, as well as a leading cause of kidney failure in adults. It is also known as “focal glomerular sclerosis” or “focal nodular...
