EMARDD

Common Name(s)

EMARDD, Early onset myopathy, areflexia, respiratory distress, dysphagia, Myopathy, areflexia, respiratory distress, and dysphagia, early-onset

This disorder represents a congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis. More variable features include cleft palate and feeding difficulties. There is variable severity: some patients become ventilator-dependent, never achieve walking, and die in childhood, whereas others have a longer and more favorable course (summary by {4:Logan et al., 2011} and {1:Boyden et al., 2012}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "EMARDD" 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 "EMARDD" returned 1 free, full-text research articles on human participants. First 3 results:

Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD).
 

Author(s): Tyler Mark Pierson, Thomas Markello, John Accardi, Lynne Wolfe, David Adams, Murat Sincan, Noor M Tarazi, Karin Fuentes Fajardo, Praveen F Cherukuri, Ilda Bajraktari, Katy G Meilleur, Sandra Donkervoort, Mina Jain, Ying Hu, Tanya J Lehky, Pedro Cruz, James C Mullikin, Carsten Bonnemann, William A Gahl, Cornelius F Boerkoel, Cynthia J Tifft

Journal: Neuromuscul. Disord.. 2013 Jun;23(6):483-8.

 

Early-onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD) is a myopathic disorder associated with mutations in MEGF10. By novel analysis of SNP array hybridization and exome sequence coverage, we diagnosed a 10-years old girl with EMARDD following identification ...

Last Updated: 28 May 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 "EMARDD" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.