Congenital Fiber-Type DisproportionSymptoms, Doctors, Treatments, Advances & More
Learn About Congenital Fiber-Type Disproportion
Congenital fiber-type disproportion is a condition that primarily affects skeletal muscles, which are muscles used for movement. People with this condition typically experience muscle weakness (myopathy), particularly in the muscles of the shoulders, upper arms, hips, and thighs. Weakness can also affect the muscles of the face and muscles that control eye movement (ophthalmoplegia), sometimes causing droopy eyelids (ptosis). Individuals with congenital fiber-type disproportion generally have a long face, a high arch in the roof of the mouth (high-arched palate), and crowded teeth.
Mutations in multiple genes can cause congenital fiber-type disproportion. Mutations in the TPM3, RYR1 and ACTA1 genes cause 35 to 50 percent of cases, while mutations in other genes, some known and some unidentified, are responsible for the remaining cases.
Congenital fiber-type disproportion is thought to be a rare condition, although its prevalence is unknown.
Congenital fiber-type disproportion can have multiple inheritance patterns.
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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Perry Shieh is a Neurologist practicing medicine in Los Angeles, California. Dr. Shieh is rated as an Elite provider by MediFind in the treatment of Congenital Fiber-Type Disproportion. He is also highly rated in 47 other conditions, according to our data. His clinical expertise encompasses Duchenne Muscular Dystrophy, Spinal Muscular Atrophy (SMA), Becker Muscular Dystrophy, and Tubular Aggregate Myopathy.
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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 20 other conditions, according to our data. His clinical expertise encompasses Tubular Aggregate Myopathy, Congenital Fiber-Type Disproportion, X-Linked Myotubular Myopathy, Hypotonia, and Gastrostomy.
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...
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...
Published Date: May 01, 2016
Published By: National Institutes of Health