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...
by CheckRare Staff | Aug 8, 2017
X-linked juvenile retinoschisis (XLRS) is a genetic ocular disease characterized by reduced visual acuity in males due to juvenile macular degeneration. Symptoms X-linked juvenile retinoschisis manifests with poor vision and reading difficulties. In severe cases,...
by CheckRare Staff | Aug 8, 2017
Overview Pulmonary arterial hypertension (PAH) is a rare, progressive disorder characterized by high blood pressure (hypertension) in the arteries of the lungs (pulmonary artery) for no apparent reason. The pulmonary arteries are the blood vessels that carry blood...
