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From SNPedia
Emery-Dreifuss Muscular Dystrophy
Is agenotype
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of an Emery-Dreifuss Muscular Dystrophy mutation
(T;T) 6.4 Emery-Dreifuss Muscular Dystrophy

This is a genotype with recommended actions if clinically confirmed. In brief:

  • Emery-Dreifuss muscular dystrophy (EDMD) is characterized by joint contractures, progressive muscle weakness/wasting, and heart issues.
  • There are both autosomal dominant forms (from LMNA gene mutations) and X-linked recessive forms (from EMD and FHL1 gene mutations).
  • EDMD patients should seek help from clinics designed to care for those with muscular dystrophy and other neuromuscular disorders.
  • Annual (or periodic) assessments including cardiac, respiratory, weight and spinal structural status are recommended.
  • Things to avoid include dehydration, overly intense exercise, depolarizing muscle relaxants, and volatile anesthetic drugs.
  • Certain LMNA EDMD mutations may have reduced penetrance, i.e. may not lead to the disorder in some cases.

The full ClinGen Actionability report about Emery-Dreifuss Muscular Dystrophy (EDMD) can be found here.

Genetic counseling may be available to you through your health-care network. In the US, genetic counselors may be found via this webpage of the National Society of Genetic Counselors.