Congenital Dystrophies

Common Name(s)

Congenital Dystrophies

Description for this condition is not yet available.
 

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

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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

Importance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies.
 

Author(s): Uluç Yis, Figen Baydan, Mert Karakaya, Semra Hız Kurul, Sebahattin Cirak

Journal: Biomed Res Int. 2016 ;2016():3128735.

 

Megaconial congenital muscular dystrophy (OMIM 602541) is characterized with early-onset hypotonia, muscle wasting, proximal weakness, cardiomyopathy, mildly elevated serum creatine kinase (CK) levels, and mild-to-moderate intellectual disability. We report two siblings in a consanguineous ...

Last Updated: 31 Dec 1969

Go To URL
212th ENMC International Workshop: Animal models of congenital muscular dystrophies, Naarden, The Netherlands, 29-31 May 2015.
 

Author(s): M Saunier, C G Bönnemann, M Durbeej, V Allamand,

Journal: Neuromuscul. Disord.. 2016 Mar;26(3):252-9.

 

Last Updated: 31 Dec 1969

Go To URL
Congenital Corneal Endothelial Dystrophies Resulting From Novel De Novo Mutations.
 

Author(s): Khrishen Cunnusamy, Charles B Bowman, Walter Beebe, Xin Gong, R Nick Hogan, V Vinod Mootha

Journal: Cornea. 2016 Feb;35(2):281-5.

 

To describe 2 cases of congenital corneal endothelial edema resulting from novel de novo mutations.

Last Updated: 31 Dec 1969

Go To URL

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 11 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: 31 Dec 1969

Go To URL
[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: 31 Dec 1969

Go To URL
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: 31 Dec 1969

Go To URL
 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Trial Readiness and Endpoint Assessment in Congenital Myotonic Dystrophy
 

Status: Recruiting

Condition Summary: Congenital Myotonic Dystrophy

 

Last Updated: 16 Feb 2017

Go to URL
Study of Ranolazine in Myotonia Congenita, Paramyotonia Congenita and Myotonic Dystrophy Type 1
 

Status: Recruiting

Condition Summary: Myotonia Congenita (Enrollment Complete); Paramyotonia Congenita; Myotonic Dystrophy 1

 

Last Updated: 18 Mar 2017

Go to URL
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

Go to URL