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:

[Potential of the zebrafish model to study congenital muscular dystrophies].
 

Author(s): Lucile Ryckebüsch

Journal: Med Sci (Paris). 2015 Oct;31(10):912-9.

 

In order to better understand the complexity of congenital muscular dystrophies (CMD) and develop new strategies to cure them, it is important to establish new disease models. Due to its numerous helpful attributes, the zebrafish has recently become a very powerful animal model for ...

Last Updated: 20 Oct 2015

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Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophies.
 

Author(s): Katherine G Meilleur, Minal S Jain, Linda S Hynan, Ching-Yi Shieh, Eunice Kim, Melissa Waite, Michelle McGuire, Courtney Fiorini, Allan M Glanzman, Marion Main, Kristy Rose, Tina Duong, Roxanna Bendixen, Melody M Linton, Irene C Arveson, Carmel Nichols, Kelly Yang, Kenneth H Fischbeck, Kathryn R Wagner, Kathryn North, Ami Mankodi, Christopher Grunseich, Elizabeth J Hartnett, Michaele Smith, Sandra Donkervoort, Alice Schindler, Angela Kokkinis, Meganne Leach, A Reghan Foley, James Collins, Francesco Muntoni, Anne Rutkowski, Carsten G Bönnemann

Journal: Neuromuscul. Disord.. 2015 Jan;25(1):43-54.

 

Potential therapies are currently under development for two congenital muscular dystrophy (CMD) subtypes: collagen VI-related muscular dystrophy (COL6-RD) and laminin alpha 2-related dystrophy (LAMA2-RD). However, appropriate clinical outcome measures to be used in clinical trials ...

Last Updated: 29 Dec 2014

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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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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:

Diagnostic approach to the congenital muscular dystrophies.
 

Author(s): Carsten G Bönnemann, Ching H Wang, Susana Quijano-Roy, Nicolas Deconinck, Enrico Bertini, Ana Ferreiro, Francesco Muntoni, Caroline Sewry, Christophe Béroud, Katherine D Mathews, Steven A Moore, Jonathan Bellini, Anne Rutkowski, Kathryn N North,

Journal: Neuromuscul. Disord.. 2014 Apr;24(4):289-311.

 

Congenital muscular dystrophies (CMDs) are early onset disorders of muscle with histological features suggesting a dystrophic process. The congenital muscular dystrophies as a group encompass great clinical and genetic heterogeneity so that achieving an accurate genetic diagnosis ...

Last Updated: 17 Mar 2014

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[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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Symptoms, Diagnosis, and Treatment

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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: 31 Aug 2016

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Long-Term Follow-Up Gene Therapy Study for Leber Congenital Amaurosis OPTIRPE65 (Retinal Dystrophy Associated With Defects in RPE65)
 

Status: Not yet recruiting

Condition Summary: Leber Congenital Amaurosis (LCA); Eye Diseases; Eye Diseases, Hereditary; Retinal Diseases

 

Last Updated: 31 Oct 2016

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