Disease characteristics. Congenital fiber-type disproportion (CFTD) is usually characterized by hypotonia and mild-to-severe generalized muscle weakness at birth or within the first year of life. Although some individuals remain non-ambulatory throughout life, many eventually develop the ability to walk.
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MIM #255310 · Text · Description · Clinical Features · Inheritance · Cytogenetics · Molecular Genetics · Pathogenesis ...
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Congenital fibre type disproportion (CFTD) is characterized by congenital ... Congenital fibre type disproportion a time-locked diagnosis: A clinical and ...
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Congenital Fiber-type Disproportion (CFTD) ... Treatment of Congenital fiber type disproportion may consist of active and passive exercises and physical therapy to promote muscle function. Functional improvement usually occurs as the patient matures. Genetic counseling may be of benefit for patients and their families.
disability.ucdavis.edu/disease_deatails.php?id=31
Congenital myopathy with fiber type disproportion (CFTD) is one of the rare forms of neuromuscular disease that are present at birth. The most common medical problems associated with CFTD are scattered muscular weakness, low muscle tone, and bone deformities.
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Important It is possible that the main title of the report Fiber Type Disproportion, Congenital is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. ... Myopathy of Congenital Fiber Type Disproportion...
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Myopathy, congenital fiber-type disproportion information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis. ... Symptoms of Myopathy, congenital fiber-type disproportion...
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Overview of Myopathy, congenital fiber-type disproportion as a medical condition including introduction, prevalence, prognosis, profile, symptoms, diagnosis, misdiagnosis, and treatment ... Symptoms of Myopathy, congenital fiber-type disproportion...
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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 p ... Myopathy of Congenital Fiber Type Disproportion...
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A histochemical study of his muscle biopsy showed type 1 fiber predominancy (64.6%) and that the mean diameter of type 1 fibers was smaller than that of type 2 by 14.6% (36.9 microm vs. 42.3 microm). Results of immunostaining of dystrophin, emerin, laminA/C, alpha, beta, gamma, delta-sarcoglycan or dysferlin were normal.
www.medscape.com/medline/abstract/15960177