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Congenital Fiber Type Disproportion

Abstract

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NORD is very grateful to Nigel Clarke, MBChB, PhD, FRACP, Clinical Geneticist, University of Sydney and Children's Hospital, Westmead, Australia, for assistance in the preparation of this report.

Synonyms of Congenital Fiber Type Disproportion

  • atrophy of type I fibers
  • CFTD
  • CFTDM
  • myopathy, congenital, with fiber-type disproportion
  • myopathy of congenital fiber type disproportion

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Congenital fiber type disproportion (CFTD) is a rare genetic muscle disease that is usually apparent at birth (congenital myopathy). It belongs to a group of muscle conditions called the congenital myopathies that tend to affect people in a similar pattern. Major symptoms may include loss of muscle tone (hypotonia) and generalized muscle weakness. Delays in motor development are common and people with more marked muscle weakness also have abnormal side-to-side curvature of the spine (scoliosis), dislocated hips, and the permanent fixation of certain joints in a flexed position (contractures), particularly at the ankle.

The diagnosis of congenital fiber type disproportion is controversial. The changes to muscle tissue that characterize the disorder can also occur in association with many other disorders or conditions including other congenital muscle disorders, myotonic dystrophy nerve disorders (such as spinal muscular atrophy), metabolic conditions, and a variety of brain malformations such as cerebellar hypoplasia. These conditions should be considered and excluded before a diagnosis of CFTD is made. Most patients with CFTD have no other affected relatives (sporadic). Some cases are inherited as an autosomal recessive or dominant trait. In one family, CFTD was inherited as an X-linked recessive trait.

Organizations related to Congenital Fiber Type Disproportion

Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder.

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