Diseases & Conditions


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Fiber Type Disproportion, Congenital


Synonyms of Fiber Type Disproportion, Congenital
  • Atrophy of Type I Fibers
  • CFTD
  • CFTDM
  • Myopathy, Congenital, With Fiber-Type Disproportion
  • Myopathy of Congenital Fiber Type Disproportion

Disorder Subdivisions



    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. Affected infants may also have distinctive facial features. Additional common symptoms that occur include abnormal side-to-side curvature of the spine (scoliosis), delays in motor development, dislocated hips, and the permanent fixation of certain joints in a flexed position (contractures).

    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, Krabbe disease, Lowe?s syndrome, myotonic dystrophy, fetal alcohol syndrome, and a variety of brain malformations such as cerebellar hypoplasia. These conditions should be 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 Fiber Type Disproportion, Congenital
    • European Alliance of Neuromuscular Disorders Associations
      MDG Malta 4,
      Gzira Intl GAR 04
      Phone #: 003-56 -21 346688
      800 #: --
      e-mail: eamda@hotmail.com
      Home page: http://www.eamda.net
    • MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
      150 Custer Court
      Green Bay WI 54301-1243
      Phone #: 920-336-5333
      800 #: 877-336-5333
      e-mail: mums@netnet.net
      Home page: http://www.netnet.net/mums/
    • March of Dimes Birth Defects Foundation
      1275 Mamaroneck Avenue
      White Plains NY 10605
      Phone #: 914-428-7100
      800 #: 888-663-4637
      e-mail: Askus@marchofdimes.com
      Home page: http://www.marchofdimes.com
    • NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
      1 AMS Circle
      Bethesda MD 20892-3675
      Phone #: 301-495-4484
      800 #: 877-226-4267
      e-mail: NIAMSinfo@mail.nih.gov
      Home page: http://www.niams.nih.gov/Health_Info
    • National Institute of Neurological Disorders and Stroke (NINDS)
      31 Center Drive
      Bethesda MD 20892-2540
      Phone #: 301-496-5751
      800 #: 800-352-9424
      e-mail: braininfo@ninds.nih.gov
      Home page: http://www.ninds.nih.gov/



    For a Complete Report

    This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html