Learn About Congenital Fiber-Type Disproportion

What is the definition of 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.

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What are the causes of Congenital Fiber-Type Disproportion?

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.

How prevalent is Congenital Fiber-Type Disproportion?

Congenital fiber-type disproportion is thought to be a rare condition, although its prevalence is unknown.

Is Congenital Fiber-Type Disproportion an inherited disorder?

Congenital fiber-type disproportion can have multiple inheritance patterns.

Who are the top Congenital Fiber-Type Disproportion Local Doctors?
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What are the latest Congenital Fiber-Type Disproportion Clinical Trials?
Myotubular and Centronuclear Myopathy Patient Registry

Summary: The Myotubular and Centronuclear Myopathy Patient Registry (also referred to as the 'MTM and CNM Registry') is an international, patient-reported database specific to these conditions. More details and online registration are available at www.mtmcnmregistry.org.

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TAM4MTM: A Phase 1/2 Randomized, Placebo-Controlled, Double-Blinded, Single Crossover Study to Determine the Safety and Efficacy of Tamoxifen Therapy for Myotubular Myopathy (XLMTM)

Summary: This is a phase 1 / 2, randomized, double-blinded, single cross-over study, with a washout period between treatment regimens, to test the efficacy and safety of tamoxifen therapy to improve motor and respiratory function in males with XLMTM.

Who are the sources who wrote this article ?

Published Date: May 01, 2016Published By: National Institutes of Health

What are the Latest Advances for Congenital Fiber-Type Disproportion?
RYR1-related myopathies: Expanding the spectrum of morphological presentation.
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