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...
by CheckRare Staff | May 15, 2020
Glioblastoma is a very aggressive brain tumor. Most cases occur later in life (45 – 70 years of age), but it can afflict any person at any age. Approximately 3 in every 100,000 people per year will develop this cancer. Symptoms that often lead to a diagnosis include...
by CheckRare Staff | May 4, 2020
CHARGE syndrome is a complex genetic condition, which affects multiple systems in the body and sensory systems. It is the leading genetic cause of deafblindness worldwide, occurring in approximately 1 in 10,000 births. CHARGE syndrome is most often caused by...
by CheckRare Staff | May 3, 2020
Sanfilippo syndrome, or Mucopolysaccharidosis III (MPS-III) is a rare and progressive autosomal recessive lysosomal storage disease. It is caused by a deficiency in one of the enzymes needed to break down the glycosaminoglycan heparan sulfate. This sulfate is found in...
