Congenital Muscular Dystrophy

Common Name(s)

Congenital Muscular Dystrophy

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Congenital Muscular Dystrophy" for support, advocacy or research.

Cure CMD

Cure CMD's mission is to bring research, treatments and in the future, a cure for Congenital Muscular Dystrophies. Cure CMD will do this by bringing together dedicated parent, government and research advocates throughout the world working on this common purpose. By focusing on this purpose, Cure CMD will find and fund high potential research and clinical trials. Success will be determined by clinical applications that improve the lives of those afflicted with CMD's .

Last Updated: 30 May 2014

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Freeman-Sheldon Research Group, Inc.

The mission of the Freeman-Sheldon Research Group, Inc. (FSRG) is to provide a Judeo-Christian faith-based setting (1) to improve the quality of life of individuals with Freeman-Sheldon (FSS), Sheldon-Hall syndromes (SHS), and related entities by furthering research, clinical care, advocacy, and education for families, professionals, and the wider lay community; (2) for education and training in the health sciences; and (3) to facilitate fellowship and professional exchange concerning the above.

Last Updated: 11 Jul 2011

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werathah

To provide support and health education to patients and their families with genetic and congenital disorders

Last Updated: 1 May 2013

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Congenital Muscular Dystrophy" for support, advocacy or research.

Cure CMD

Cure CMD's mission is to bring research, treatments and in the future, a cure for Congenital Muscular Dystrophies. Cure CMD will do this by bringing together dedicated parent, government and research advocates throughout the world working on this common purpose. By focusing on this purpose, Cure CMD will find and fund high potential research and clinical trials. Success will be determined by clinical applications that improve the lives of those afflicted with CMD's .

http://www.curecmd.org

Last Updated: 30 May 2014

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Freeman-Sheldon Research Group, Inc.

The mission of the Freeman-Sheldon Research Group, Inc. (FSRG) is to provide a Judeo-Christian faith-based setting (1) to improve the quality of life of individuals with Freeman-Sheldon (FSS), Sheldon-Hall syndromes (SHS), and related entities by furthering research, clinical care, advocacy, and education for families, professionals, and the wider lay community; (2) for education and training in the health sciences; and (3) to facilitate fellowship and professional exchange concerning the above.

http://fsrgroup.org

Last Updated: 11 Jul 2011

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werathah

To provide support and health education to patients and their families with genetic and congenital disorders

http://www.werathah.com

Last Updated: 1 May 2013

View Details

 

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 "Congenital Muscular Dystrophy" returned 81 free, full-text research articles on human participants. First 3 results:

A large series of immunohistochemically confirmed cases of congenital muscular dystrophy seen over a period of one decade.
 

Author(s): Madhu Nagappa, Nalini Atchayaram, Gayathri Narayanappa

Journal: Neurol India. ;61(5):481-7.

 

Although congenital muscular dystrophies (CMD) is a common condition among primary muscle disorders, there are only a few small series reported from India. AIMS, SETTINGS, AND DESIGN: Retrospective analysis to characterize histopathologically and/or immunohistochemically confirmed cases of CMD.

Last Updated: 22 Nov 2013

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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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Teaching NeuroImages: characteristic phenotype of Ullrich congenital muscular dystrophy.
 

Author(s): Wendy K M Liew, Basil T Darras

Journal: Neurology. 2013 Aug;81(7):e44-5.

 

Last Updated: 13 Aug 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 "Congenital Muscular Dystrophy" returned 7 free, full-text review articles on human participants. First 3 results:

The o-mannosylation pathway: glycosyltransferases and proteins implicated in congenital muscular dystrophy.
 

Author(s): Lance Wells

Journal: J. Biol. Chem.. 2013 Mar;288(10):6930-5.

 

Several forms of congenital muscular dystrophy, referred to as dystroglycanopathies, result from defects in the protein O-mannosylation biosynthetic pathway. In this minireview, I discuss 12 proteins involved in the pathway and how they play a role in the building of glycan structures ...

Last Updated: 11 Mar 2013

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Complex glycerol kinase deficiency - X-linked contiguous gene syndrome involving congenital adrenal hypoplasia, glycerol kinase deficiency, muscular Duchenne dystrophy and intellectual disability (IL1RAPL gene deletion).
 

Author(s): Beata Wikiera, Aleksandra Jakubiak, Janusz Zimowski, Anna NoczyƄska, Robert Smigiel

Journal: Pediatr Endocrinol Diabetes Metab. 2012 ;18(4):153-7.

 

Contiguous gene syndromes are disorders caused by deletions of genes that are adjacent to one another. One of them is complex glycerol kinase deficiency. It is caused by partial deletion of Xp21, which includes the genes responsible for glycerol kinase deficiency, congenital adrenal ...

Last Updated: 6 Jun 2013

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Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives.
 

Author(s): Umbertina Conti Reed

Journal: Arq Neuropsiquiatr. 2009 Jun;67(2A):343-62.

 

The congenital muscular dystrophies (CMDs) are a group of genetically and clinically heterogeneous hereditary myopathies with preferentially autosomal recessive inheritance, that are characterized by congenital hypotonia, delayed motor development and early onset of progressive muscle ...

Last Updated: 23 Jun 2009

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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

Last Updated: 6 Dec 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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A Study to Test Lung Stretch Therapy (Hyperinsufflation) to Slow the Rate of Decline in Children With Collagen VI Muscular Dystrophy
 

Status: Recruiting

Condition Summary: Congenital Muscular Dystrophy; Collagen VI Deficiency

 

Last Updated: 14 Jul 2014

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