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rs267607540(-;GAA)

From SNPedia
Emery-Dreifuss Muscular Dystrophy
Is agenotype
ofrs267607540
GeneLMNA
Chromosome1
Position156,134,511
Merged fromRs267607551
mentionedby
Magnitude6.4
ReputeBad
Geno Mag Summary
(-;GAA) 6.4 Emery-Dreifuss Muscular Dystrophy
(AAG;AAG) 0 common in clinvar
(AGA;AGA) 0 common in clinvar
(I;I) 0 common genotype

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.