Congenital Fiber Type Disproportion
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Congenital Fiber Type Disproportion is not the name you expected.
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.
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This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
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Last Updated: 3/30/2012
Copyright 2012 National Organization for Rare Disorders, Inc.
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