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.