Myopathy congenital

Common Name(s)

Myopathy congenital, Congenital Myopathy

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Myopathy congenital" for support, advocacy or research.

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Muscular Dystrophy Association

MDA is the nonprofit health agency dedicated to curing muscular dystrophy, ALS and related diseases by funding worldwide research. The Association also provides comprehensive health care and support services, advocacy and education.

Last Updated: 8 Mar 2010

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Myopathy congenital" for support, advocacy or research.

Logo
Muscular Dystrophy Association

MDA is the nonprofit health agency dedicated to curing muscular dystrophy, ALS and related diseases by funding worldwide research. The Association also provides comprehensive health care and support services, advocacy and education.

http://www.mdausa.org

Last Updated: 8 Mar 2010

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General Support Organizations

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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 "Myopathy congenital" returned 38 free, full-text research articles on human participants. First 3 results:

Body composition, muscle strength, and physical function of patients with Bethlem myopathy and Ullrich congenital muscular dystrophy.
 

Author(s): Maria Teresa Miscione, Francesca Bruno, Claudio Ripamonti, Giuliana Nervuti, Riccardo Orsini, Cesare Faldini, Massimo Pellegrini, Daniela Cocchi, Luciano Merlini

Journal:

 

To determine the contributions of body mass, adiposity, and muscularity to physical function and muscle strength in adult patients with Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD).

Last Updated: 28 Oct 2013

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Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy.
 

Author(s): Anna Ardissone, Cinzia Bragato, Lorella Caffi, Flavia Blasevich, Sabrina Maestrini, Maria Luisa Bianchi, Lucia Morandi, Isabella Moroni, Marina Mora

Journal:

 

Mutations in the PTRF gene, coding for cavin-1, cause congenital generalized lipodystrophy type 4 (CGL4) associated with myopathy. In CGL4, symptoms are variable comprising, in addition to myopathy, smooth and skeletal muscle hypertrophy, cardiac arrhythmias, and skeletal abnormalities. ...

Last Updated: 15 Nov 2013

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Congenital myopathy is caused by mutation of HACD1.
 

Author(s): Emad Muhammad, Orit Reish, Yusuke Ohno, Todd Scheetz, Adam Deluca, Charles Searby, Miriam Regev, Lilach Benyamini, Yakov Fellig, Akio Kihara, Val C Sheffield, Ruti Parvari

Journal: Hum. Mol. Genet.. 2013 Dec;22(25):5229-36.

 

Congenital myopathies are heterogeneous inherited diseases of muscle characterized by a range of distinctive histologic abnormalities. We have studied a consanguineous family with congenital myopathy. Genome-wide linkage analysis and whole-exome sequencing identified a homozygous ...

Last Updated: 28 Nov 2013

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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 "Myopathy congenital" returned 1 free, full-text review articles on human participants. First 3 results:

The zebrafish as a model for muscular dystrophy and congenital myopathy.
 

Author(s): David I Bassett, Peter D Currie

Journal: Hum. Mol. Genet.. 2003 Oct;12 Spec No 2():R265-70.

 

The muscular dystrophies and congenital myopathies are inherited diseases of the skeletal muscle, which lead to a loss of muscle function and are often fatal. While many of the loci involved are already known, these conditions remain incurable, and genetic models are being developed ...

Last Updated: 23 Sep 2003

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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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Aerobic Training in Patients With Congenital Myopathies
 

Status: Recruiting

Condition Summary: Congenital Myopathy

 

Last Updated: 6 Jun 2014

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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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