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

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 96 free, full-text research articles on human participants. First 3 results:

Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy.
 

Author(s): Daniel P S Osborn, Heather L Pond, Neda Mazaheri, Jeremy Dejardin, Christopher J Munn, Khaloob Mushref, Edmund S Cauley, Isabella Moroni, Maria Barbara Pasanisi, Elizabeth A Sellars, R Sean Hill, Jennifer N Partlow, Rebecca K Willaert, Jaipreet Bharj, Reza Azizi Malamiri, Hamid Galehdari, Gholamreza Shariati, Reza Maroofian, Marina Mora, Laura E Swan, Thomas Voit, Francesco J Conti, Yalda Jamshidi, M Chiara Manzini

Journal: Am. J. Hum. Genet.. 2017 Mar;100(3):537-545.

 

Congenital muscular dystrophies display a wide phenotypic and genetic heterogeneity. The combination of clinical, biochemical, and molecular genetic findings must be considered to obtain the precise diagnosis and provide appropriate genetic counselling. Here we report five individuals ...

Last Updated: 13 Feb 2017

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Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.
 

Author(s): Manuela Wiessner, Andreas Roos, Christopher J Munn, Ranjith Viswanathan, Tamieka Whyte, Dan Cox, Benedikt Schoser, Caroline Sewry, Helen Roper, Rahul Phadke, Chiara Marini Bettolo, Rita Barresi, Richard Charlton, Carsten G Bönnemann, Osório Abath Neto, Umbertina C Reed, Edmar Zanoteli, Cristiane Araújo Martins Moreno, Birgit Ertl-Wagner, Rolf Stucka, Christian De Goede, Tamiris Borges da Silva, Denisa Hathazi, Margherita Dell'Aica, René P Zahedi, Simone Thiele, Juliane Müller, Helen Kingston, Susanna Müller, Elizabeth Curtis, Maggie C Walter, Tim M Strom, Volker Straub, Kate Bushby, Francesco Muntoni, Laura E Swan, Hanns Lochmüller, Jan Senderek

Journal: Am. J. Hum. Genet.. 2017 Mar;100(3):523-536.

 

Phosphoinositides are small phospholipids that control diverse cellular downstream signaling events. Their spatial and temporal availability is tightly regulated by a set of specific lipid kinases and phosphatases. Congenital muscular dystrophies are hereditary disorders characterized ...

Last Updated: 13 Feb 2017

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Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan.
 

Author(s): Wen-Chen Liang, Xia Tian, Chung-Yee Yuo, Wan-Zi Chen, Tsu-Min Kan, Yi-Ning Su, Ichizo Nishino, Lee-Jun C Wong, Yuh-Jyh Jong

Journal:

 

Congenital muscular dystrophy (CMD) is a heterogeneous disease entity. The detailed clinical manifestation and causative gene for each subgroup of CMD are quite variable. This study aims to analyze the phenotypes and genotypes of Taiwanese patients with CMD as the epidemiology of ...

Last Updated: 9 Feb 2017

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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 6 free, full-text review articles on human participants. First 3 results:

Congenital muscular dystrophy: from muscle to brain.
 

Author(s): Raffaele Falsaperla, Andrea D Praticò, Martino Ruggieri, Enrico Parano, Renata Rizzo, Giovanni Corsello, Giovanna Vitaliti, Piero Pavone

Journal:

 

Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that manifest with very early onset of muscular weakness, sometime associated to severe brain involvement.The histologic pattern of muscle anomalies is typical of dystrophic lesions but quite variable depending ...

Last Updated: 31 Aug 2016

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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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The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy.
 

Author(s): Carsten G Bönnemann

Journal: Handb Clin Neurol. 2011 ;101():81-96.

 

Mutations in the genes COL6A1, COL6A2, and COL6A3, coding for three α chains of collagen type VI, underlie a spectrum of myopathies, ranging from the severe congenital muscular dystrophy-type Ullrich (UCMD) to the milder Bethlem myopathy (BM), with disease manifestations of intermediate ...

Last Updated: 18 Apr 2011

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Calibration and Validation of the PROMIS and Neuro-QOL Questionnaires in Cerebral Palsy and Congenital Muscular Dystrophy
 

Status: Recruiting

Condition Summary: Cerebral Palsy; Neuromuscular Disease

 

Last Updated: 19 Oct 2017

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Congenital Muscle Disease Study of Patient and Family Reported Medical Information
 

Status: Recruiting

Condition Summary: Congenital Muscular Dystrophy (Including Unspecified/Undiagnosed); Dystroglycanopathy; Congenital Fiber Type Disproportion; Rigid Spine Muscular Dystrophy; Congenital Myopathy (Including Unspecified/Undiagnosed); Collagen VI CMD (Ullrich CMD, Intermediate, Bethlem Myopathy); Laminin Alpha 2 Related Congenital Muscular Dystrophy; LAMA2-CMD/Merosin Deficient/MDC1A; Walker-Warburg Syndrome; Muscle-Eye-Brain Disease; Fukuyama/Fukutin Related Muscular Dystrophy; Integrin Alpha 7 Deficiency; Integrin Alpha 9 Deficiency; LMNA-CMD/Lamin A/C/Laminopathy; SEPN1-Related Myopathy; Bethlem Myopathy; 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 Myopathy; Reducing Body Myopathy; Spheroid Body Myopathy; LGMD1B (LMNA); LGMD1E (DES); LGMD2G (TCAP); LGMD2H (TRIM32); LGMD2I (FKRP); LGMD2J (TTN); LGMD2K (POMT1); LGMD2M (FKTN); LGMD2N (POMT2); LGMD2O (POMGnT1); LGMD2P (DAG1); LGMD2Q (PLEC1); LGMD2R (DES); LGMD2S (TRAPPC11); LGMD2T (GMPPB); LGMD2U (ISPD); LGMD2V (GAA); Ullrich Congenital Muscular Dystrophy; Titinopathy; Choline Kinase B Receptor; Emery-Dreifuss Muscular Dystrophy; RYR1 Related Myopathy; SYNE1/Nesprin Related Muscular Dystrophy; Telethonin Related Muscular Dystrophy (TCAP/Titin-Cap); Congenital Myasthenic Syndrome; Escobar Syndrome; Myofibrillar Myopathy; Malignant Hyperthermia; Alpha-Dystroglycan Related Muscular Dystrophy (DAG1, DPM1, DPM2, DPM3, FKRP, FKTN); Alpha-Dystroglycan Related Muscular Dystrophy (GAA, ISPD, LARGE, POMT1, POMT2, POMGnT1); Alpha-Dystroglycan Related Muscular Dystrophy (Unspecified/Undiagnosed/Other)

 

Last Updated: 5 May 2017

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Clinical Trial Readiness for the Dystroglycanopathies
 

Status: Recruiting

Condition Summary: Muscular Dystrophy

 

Last Updated: 21 Dec 2016

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