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.
Levine Children's Hospital
Dukjin Im is a Pediatrics provider practicing medicine in Charlotte, North Carolina. Dr. Im is rated as an Experienced provider by MediFind in the treatment of Distal Myopathy 2. His clinical expertise encompasses Cerebral Palsy, Spasticity, Spastic Diplegia Infantile Type, and Walker-Warburg Syndrome. Dr. Im is board certified in American Board Of Physical Medicine And Rehabilitation and American Board Of Physical Medicine And Rehabilitation, Pediatric Rehabilitation Medicine. Dr. Im is currently accepting new patients.
St. Christopher's Pediatric Associates Neurology - E. Erie Avenue
Joseph Melvin is a Neurologist practicing medicine in Philadelphia, Pennsylvania. Dr. Melvin is rated as an Experienced provider by MediFind in the treatment of Distal Myopathy 2. He is also highly rated in 1 other condition, according to our data. His clinical expertise encompasses Generalized Tonic-Clonic Seizure, Phenylketonuria (PKU), West Syndrome, and Seizures. Dr. Melvin is board certified in American Board Of Psychiatry And Neurology.
GMC Neurology
Dr. Friedenberg is a neurologist board certified in neurology, neurophysiology and electromyography by the American Board of Psychiatry and Neurology. His clinical interests include neuromuscular disease (including ALS and muscular dystrophy), electromyography, general neurology and neurologic education. He earned his medical degree from Temple University, and completed his residency and fellowship at Mayo Clinic, Rochester, MN. Dr. Friedenberg is rated as a Distinguished provider by MediFind in the treatment of Distal Myopathy 2. He is also highly rated in 40 other conditions, according to our data. His clinical expertise encompasses Myasthenia Gravis, Guillain-Barre Syndrome, Chronic Polyradiculoneuritis, and Miller-Fisher Syndrome. Dr. Friedenberg is currently accepting new patients.
Published Date: November 01, 2011
Published By: National Institutes of Health