Congenital Fiber-Type DisproportionSymptoms, Doctors, Treatments, Advances & More
Congenital Fiber-Type Disproportion Overview
Learn About Congenital Fiber-Type Disproportion
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Penn Neuroscience Center - Neurology
James Dowling is a Neurologist practicing medicine in Philadelphia, Pennsylvania. Dr. Dowling is rated as an Elite provider by MediFind in the treatment of Congenital Fiber-Type Disproportion. He is also highly rated in 20 other conditions, according to our data. His clinical expertise encompasses Tubular Aggregate Myopathy, Congenital Fiber-Type Disproportion, X-Linked Myotubular Myopathy, and Horizontal Gaze Palsy with Progressive Scoliosis. Dr. Dowling is board certified in Neurology - Child Neurology, 2007. Dr. Dowling is currently accepting new patients.
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Carsten Bonnemann is a Pediatric Neurologist practicing medicine in Philadelphia, Pennsylvania. Dr. Bonnemann is rated as an Elite provider by MediFind in the treatment of Congenital Fiber-Type Disproportion. He is also highly rated in 21 other conditions, according to our data. His clinical expertise encompasses Tubular Aggregate Myopathy, Congenital Fiber-Type Disproportion, X-Linked Myotubular Myopathy, Centronuclear Myopathy, and Gastrostomy.
Johann Bohm practices practicing medicine in Illkirch-graffenstaden, France. Bohm is rated as an Elite expert by MediFind in the treatment of Congenital Fiber-Type Disproportion. They are also highly rated in 13 other conditions, according to our data. Their clinical expertise encompasses Tubular Aggregate Myopathy, X-Linked Myotubular Myopathy, Congenital Fiber-Type Disproportion, and Stormorken Syndrome.
Summary: X-linked myotubular myopathy (XLMTM) is a rare and serious condition present at birth where the muscles do not work properly. There are currently no approved therapies for XLMTM. The protein myotubularin is needed for muscle development, movement and breathing. A gene called MTM1 tells the body to make myotubularin. XLMTM is caused by changes, or mutations, in the MTM1 gene. Changes in the MTM1 ge...
Summary: XLMTM (X-linked myotubular myopathy) is a serious genetic muscle condition. It is caused by changes in the MTM1 gene which stops or slows down normal muscle development, causing severe muscle weakness. There is currently no cure for XLMTM. Ongoing care is needed to manage symptoms and prevent further medical problems from this condition. Recent research shows that individuals with XLMTM often have...