Congenital Fiber Type Disproportion
You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.
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
- myopathy, congenital, with fiber-type disproportion
- myopathy of congenital fiber type disproportion
- No subdivisions found.
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.
The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.
The National Organization for Rare Disorders (NORD) web site, its databases, and the contents thereof are copyrighted by NORD. No part of the NORD web site, databases, or the contents may be copied in any way, including but not limited to the following: electronically downloading, storing in a retrieval system, or redistributing for any commercial purposes without the express written permission of NORD. Permission is hereby granted to print one hard copy of the information on an individual disease for your personal use, provided that such content is in no way modified, and the credit for the source (NORD) and NORD’s copyright notice are included on the printed copy. Any other electronic reproduction or other printed versions is strictly prohibited.
Copyright 1989, 1999, 2006, 2007, 2012
NORD's Rare Disease Information Database is copyrighted and may not be published without the written consent of NORD.