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 advance research for treatments and a cure for the Congenital Muscular Dystrophies. Cure CMD will also improve the lives of those living with CMD through engagement and support of our community.

Last Updated: 17 Feb 2016

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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 advance research for treatments and a cure for the Congenital Muscular Dystrophies. Cure CMD will also improve the lives of those living with CMD through engagement and support of our community.

http://www.curecmd.org

Last Updated: 17 Feb 2016

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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

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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 "Congenital Muscular Dystrophy" returned 101 free, full-text research articles on human participants. First 3 results:

[Ullrich congenital muscular dystrophy. The usefulness of muscular magnetic resonance imaging in its diagnosis].
 

Author(s): M Llanos Carrasco-Marina, Susana Quijano-Roy, Gemma Iglesias-Escalera, Ana Jorge-Blanco, Ana Carro-Martinez, Nuria Gutierrez-Cruz

Journal: Rev Neurol. 2015 Jul;61(1):44-6.

 

Last Updated: 25 Jun 2015

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Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine.
 

Author(s): Peter B Kang, Leslie Morrison, Susan T Iannaccone, Robert J Graham, Carsten G Bönnemann, Anne Rutkowski, Joseph Hornyak, Ching H Wang, Kathryn North, Maryam Oskoui, Thomas S D Getchius, Julie A Cox, Erin E Hagen, Gary Gronseth, Robert C Griggs,

Journal: Neurology. 2015 Mar;84(13):1369-78.

 

To delineate optimal diagnostic and therapeutic approaches to congenital muscular dystrophy (CMD) through a systematic review and analysis of the currently available literature.

Last Updated: 31 Mar 2015

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Prevalence of congenital muscular dystrophy in Italy: a population study.
 

Author(s): Alessandra Graziano, Flaviana Bianco, Adele D'Amico, Isabella Moroni, Sonia Messina, Claudio Bruno, Elena Pegoraro, Marina Mora, Guja Astrea, Francesca Magri, Giacomo P Comi, Angela Berardinelli, Maurizio Moggio, Lucia Morandi, Antonella Pini, Roberta Petillo, Giorgio Tasca, Mauro Monforte, Carlo Minetti, Tiziana Mongini, Enzo Ricci, Ksenija Gorni, Roberta Battini, Marcello Villanova, Luisa Politano, Francesca Gualandi, Alessandra Ferlini, Francesco Muntoni, Filippo Maria Santorelli, Enrico Bertini, Marika Pane, Eugenio Mercuri

Journal: Neurology. 2015 Mar;84(9):904-11.

 

We provide a nationwide population study of patients with congenital muscular dystrophy in Italy.

Last Updated: 3 Mar 2015

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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 5 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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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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Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects.
 

Author(s): Umbertina Conti Reed

Journal: Arq Neuropsiquiatr. 2009 Mar;67(1):144-68.

 

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: 30 Mar 2009

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

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: 5 Oct 2015

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Flu Vaccine Study in Neuromuscular Patients 2011
 

Status: Recruiting

Condition Summary: Duchenne Muscular Dystrophy; Spinal Muscular Atrophy; Congenital Muscular Dystrophy

 

Last Updated: 22 Aug 2011

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