Congenital Fiber Type Disproportion

Common Name(s)

Congenital Fiber Type Disproportion, Congenital myopathy with fiber type disproportion

Congenital fiber type disproportion is a type of congenital myopathy. Congenital myopathy refers to a group of muscle disorders that appear at birth or in infancy. Early signs and symptoms of congenital fiber type disproportion include floppiness, limb and facial weakness, and breathing problems. It is a genetic disease caused by mutations in the ACTA1, SEPN1, RYR1 or TPM3 genes. Depending on the gene and mutation involved, congenital fiber type disproportion can be passed through families in an autosomal recessive, autosomal dominant, or X-linked manner.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Congenital Fiber Type Disproportion" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Congenital Fiber Type Disproportion" returned 4 free, full-text research articles on human participants. First 3 results:

Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion.
 

Author(s): Michael W Lawlor, Elizabeth T Dechene, Emily Roumm, Amelia S Geggel, Behzad Moghadaszadeh, Alan H Beggs

Journal: Hum. Mutat.. 2010 Feb;31(2):176-83.

 

Congenital fiber type disproportion (CFTD) is a rare congenital myopathy characterized by hypotonia and generalized muscle weakness. Pathologic diagnosis of CFTD is based on the presence of type 1 fiber hypotrophy of at least 12% in the absence of other notable pathological findings. ...

Last Updated: 1 Feb 2010

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Comparison of clinical characteristics between congenital fiber type disproportion myopathy and congenital myopathy with type 1 fiber predominance.
 

Author(s): Sang-Jun Na, Woo-Kyung Kim, Tai-Seung Kim, Seong-Woong Kang, Eun-Young Lee, Young-Chul Choi

Journal: Yonsei Med. J.. 2006 Aug;47(4):513-8.

 

Congenital myopathies are clinical and genetic heterogeneous disorders characterized by skeletal muscle weakness and specific structural changes in muscle fiber. Congenital myopathy with fiber type disproportion (CFTD) is an established disorder of congenital myopathy. CFTD is characterized ...

Last Updated: 30 Aug 2006

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Congenital fiber type disproportion: a rare type of congenital myopathy: a report of four cases.
 

Author(s): M C Sharma, A M Ralte, S K Atri, S Gulati, V Kalra, C Sarkar

Journal: Neurol India. 2004 Jun;52(2):254-6.

 

Congenital fiber type disproportion is a rare type of congenital myopathy which presents as hypotonia, delayed motor milestones and dysmorphic facies. During the past 2 years we received 449 muscle biopsies, of which 4 cases were diagnosed as congenital fiber type disproportion (CFTD). ...

Last Updated: 22 Jul 2004

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Congenital Fiber Type Disproportion" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Molecular and Genetic Studies of Congenital Myopathies
 

Status: Recruiting

Condition Summary: Central Core Disease; Centronuclear Myopathy; Congenital Fiber Type Disproportion; Multiminicore Disease; Myotubular Myopathy; Nemaline Myopathy; Rigid Spine Muscular Dystrophy; Undefined Congenital Myopathy

 

Last Updated: 8 Apr 2013

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Congenital Muscle Disease Study of Patient and Family Reported Medical Information
 

Status: Recruiting

Condition Summary: Muscular Dystrophy; Congenital Muscular Dystrophy; Fukutin-related Protein Gene; Limb Girdle; FKRP Gene; Childhood Onset LGMD; Adult Onset LGMD; POMT1; POMT2; POMGnT1; LARGE; Alpha Dystroglycan; Dystroglycanopathy; Centronuclear; Multiminicore; Multicore; Minicore; Congenital Fiber Type Disproportion; Myotubular; Nemaline; Congenital Myopathy; Neuromuscular; Rigid Spine; Phenotype-Genotype Correlation; Cough Assisted Device; Neuromuscular Disease; Respiratory Exacerbation; Invasive Ventilation; Chest Physiotherapy; Congenital Myopathies; Genetic Mutations; Hypertrophic Cardiomyopathy; Wheelchair Use; Cataract; Opthalmoplegia; Ullrich Congenital Muscular Dystrophy; Intermediate Collagen VI Myopathy; Laminin Alpha 2 Related Congenital Muscular Dystrophy; MDC1A; Merosin Deficient Congenital Muscular Dystrophy; Congenital Muscular Dystrophy Undiagnosed; Congenital Muscular Dystrophy Merosin Positive; Walker Warburg Syndrome; Muscle Eye Brain Disease; Fukuyama; Integrin Alpha 7 Deficiency; Integrin Alpha 9 Deficiency; Laminopathy; Lamin AC; SEPN 1 Related Myopathies; Bethlem Myopathy; Dystroglycanopathies; LGMD2K; LGMD2I; LGMD2L; LGMD2N; Actin Aggregation Myopathy; Cap Disease; Central Core Disease; Centronuclear Myopathy; Core Rod Myopathy; Hyaline Body Myopathy; Multiminicore Myopathy; Myotubular Myopathy; Nemaline Myopathy; Tubular Aggregate Myopathy; Zebra Body Disease Myopathy; Congenital Myopathy Other; Reducing Body Myopathy; Sarcotubular Myopathy; Spheroid Body Myopathy

 

Last Updated: 17 Jun 2014

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