Distal Myopathy 2Symptoms, Doctors, Treatments, Advances & More
Learn About Distal Myopathy 2
Distal myopathy 2 is a condition characterized by weakness of specific muscles that begins in adulthood. It is a form of muscular dystrophy that specifically involves muscles in the throat, lower legs, and forearms. Muscles farther from the center of the body, like the muscles of the lower legs and forearms, are known as distal muscles.
A mutation in the MATR3 gene has been identified in people with distal myopathy 2. This gene provides instructions for making a protein called matrin 3, which is found in the nucleus of the cell as part of the nuclear matrix. The nuclear matrix is a network of proteins that provides structural support for the nucleus and aids in several important nuclear functions.
The prevalence of distal myopathy 2 is unknown. At least two families with the condition have been described in the scientific literature.
Distal myopathy 2 is inherited in an autosomal dominant pattern, which means one copy of the altered MATR3 gene in each cell is sufficient to cause the disorder.
Advocate Medical Group Primary Care
Sam Fatoorehchi is a primary care provider, practicing in Family Medicine in Chicago, Illinois. Dr. Fatoorehchi is rated as an Advanced provider by MediFind in the treatment of Distal Myopathy 2. He is also highly rated in 8 other conditions, according to our data. His clinical expertise encompasses Emery-Dreifuss Muscular Dystrophy, Delta-Sarcoglycanopathy, X-Linked Dominant Scapuloperoneal Myopathy, and Oculopharyngeal Muscular Dystrophy. Dr. Fatoorehchi is board certified in American Board Of Family Medicine. Dr. Fatoorehchi is currently accepting new patients.
Community Health Association Of Spokane
Jordan Espiritu is a primary care provider, practicing in Family Medicine in Spokane Valley, Washington. Dr. Espiritu is rated as an Experienced provider by MediFind in the treatment of Distal Myopathy 2. He is also highly rated in 9 other conditions, according to our data. His clinical expertise encompasses Familial Combined Hyperlipidemia, Xanthoma, Cirrhosis, and Type 2 Diabetes (T2D). Dr. Espiritu is currently accepting new patients.
Virginia Commonwealth University Health System Authority
Nicholas Johnson is a Neurologist practicing medicine in Henrico, Virginia. Dr. Johnson is rated as an Advanced provider by MediFind in the treatment of Distal Myopathy 2. He is also highly rated in 56 other conditions, according to our data. His clinical expertise encompasses Paramyotonia Congenita, Myotonic Dystrophy, Myotonic Dystrophy Type 2, and Limb-Girdle Muscular Dystrophy. Dr. Johnson is currently accepting new patients.
Published Date: November 01, 2011
Published By: National Institutes of Health