Congenital Dystrophies

Common Name(s)

Congenital Dystrophies

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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 Dystrophies" returned 8 free, full-text research articles on human participants. First 3 results:

Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.
 

Author(s): Keren J Carss, Elizabeth Stevens, A Reghan Foley, Sebahattin Cirak, Moniek Riemersma, Silvia Torelli, Alexander Hoischen, Tobias Willer, Monique van Scherpenzeel, Steven A Moore, Sonia Messina, Enrico Bertini, Carsten G Bönnemann, Jose E Abdenur, Carla M Grosmann, Akanchha Kesari, Jaya Punetha, Ros Quinlivan, Leigh B Waddell, Helen K Young, Elizabeth Wraige, Shu Yau, Lina Brodd, Lucy Feng, Caroline Sewry, Daniel G MacArthur, Kathryn N North, Eric Hoffman, Derek L Stemple, Matthew E Hurles, Hans van Bokhoven, Kevin P Campbell, Dirk J Lefeber, , Yung-Yao Lin, Francesco Muntoni

Journal: Am. J. Hum. Genet.. 2013 Jul;93(1):29-41.

 

Congenital muscular dystrophies with hypoglycosylation of α-dystroglycan (α-DG) are a heterogeneous group of disorders often associated with brain and eye defects in addition to muscular dystrophy. Causative variants in 14 genes thought to be involved in the glycosylation of α-DG ...

Last Updated: 15 Jul 2013

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ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.
 

Author(s): Sebahattin Cirak, Aileen Reghan Foley, Ralf Herrmann, Tobias Willer, Shu Yau, Elizabeth Stevens, Silvia Torelli, Lina Brodd, Alisa Kamynina, Petr Vondracek, Helen Roper, Cheryl Longman, Rudolf Korinthenberg, Gianni Marrosu, Peter Nürnberg, , Daniel E Michele, Vincent Plagnol, Matt Hurles, Steven A Moore, Caroline A Sewry, Kevin P Campbell, Thomas Voit, Francesco Muntoni

Journal: Brain. 2013 Jan;136(Pt 1):269-81.

 

Dystroglycanopathies are a clinically and genetically diverse group of recessively inherited conditions ranging from the most severe of the congenital muscular dystrophies, Walker-Warburg syndrome, to mild forms of adult-onset limb-girdle muscular dystrophy. Their hallmark is a reduction ...

Last Updated: 31 Jan 2013

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Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency.
 

Author(s): M Pane, S Messina, G Vasco, A R Foley, L Morandi, E Pegoraro, T Mongini, A D'Amico, F Bianco, M E Lombardo, R Scalise, C Bruno, A Berardinelli, A Pini, I Moroni, M Mora, A Toscano, M Moggio, G Comi, F M Santorelli, E Bertini, F Muntoni, E Mercuri

Journal: Neuromuscul. Disord.. 2012 Aug;22(8):685-9.

 

The aim of this retrospective study was to assess respiratory and cardiac function in a large cohort of patients with congenital muscular dystrophies (CMD) with reduced glycosylation of alphadystroglycan (α-DG). Thirteen of the 115 patients included in the study died between the ...

Last Updated: 17 Jul 2012

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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 Dystrophies" returned 10 free, full-text review articles on human participants. First 3 results:

[Congenital muscular dystrophies in children].
 

Author(s): Cristina Scavone-Mauro, Graciela Barros

Journal: Rev Neurol. 2013 Sep;57 Suppl 1():S47-52.

 

From the clinical and genetic point of view, congenital muscular dystrophies (CMD) are a heterogenic group of diseases within neuromuscular pathologies. The best known forms are: merosin deficiency CMD, collagen VI deficiency CMD, LMNA-related CMD, selenoprotein-related CMD (SEPN1) ...

Last Updated: 30 Jul 2013

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Congenital muscular dystrophies: a brief review.
 

Author(s): Enrico Bertini, Adele D'Amico, Francesca Gualandi, Stefania Petrini

Journal: Semin Pediatr Neurol. 2011 Dec;18(4):277-88.

 

Congenital muscular dystrophies (CMDs) are clinically and genetically heterogeneous neuromuscular disorders with onset at birth or in infancy in which the muscle biopsy is compatible with a dystrophic myopathy. In the past 10 years, knowledge of neuromuscular disorders has dramatically ...

Last Updated: 16 Dec 2011

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Cardiac findings in congenital muscular dystrophies.
 

Author(s): Josef Finsterer, Claudio Ramaciotti, Ching H Wang, Karim Wahbi, David Rosenthal, Denis Duboc, Paola Melacini

Journal: Pediatrics. 2010 Sep;126(3):538-45.

 

Cardiac involvement (CI) in congenital muscular dystrophies (CMDs) has been only rarely investigated so far. By means of a systematic literature search we reviewed the literature about CI in CMD and found that CI is apparently absent in Ullrich CMD or CMD with integrin deficiency ...

Last Updated: 2 Sep 2010

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Symptoms, Diagnosis, and Treatment

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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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Last Updated: 19 Nov 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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