by CheckRare Staff | Dec 7, 2020
Acromegaly is a rare endocrine disorder caused by excess levels of growth hormone in the body. In most cases, the high growth hormone concentrations are the result of a benign tumor in the pituitary gland. In rare cases, acromegaly may be due to excess secretion of...
by CheckRare Staff | Nov 17, 2020
First described in 1965,[1] Angelman syndrome is a rare genetic disorder affecting roughly 500,000 people worldwide. Patients with Angelman syndrome generally experience developmental delays, intellectual disabilities, extensive speech impairment, issues with movement...
by CheckRare Staff | Sep 24, 2020
Primary biliary cholangitis (PBC) is a chronic, progressive liver disease in which the bile ducts become inflamed and damaged. This leads to the buildup of bile, causing scarring, cirrhosis, and eventual liver failure. PBC is also considered an autoimmune disease in...
by CheckRare Staff | Jul 2, 2020
David Dale, MD at the University of Washington Medical Center in Seattle, discusses some of the challenges in diagnosing WHIM syndrome. Individuals with WHIM syndrome have severe congenital neutropenia. In addition, because they also have profound white blood...
by CheckRare Staff | May 21, 2020
Overview Duchenne muscular dystrophy (DMD) is a progressive form of muscular dystrophy that occurs primarily in males, though in rare cases may affect females. DMD causes progressive weakness and loss (atrophy) of skeletal and heart muscles. Early signs of DMD...
