Primary care
Recommendation 1
Routine echos for children to monitor for cardiac involvement, cardiac pacemaker placement if patient develops heart block
Emery Dreifuss Muscular Atrophy
Not yet reviewedThis information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes.
Disease overview
Triad of muscle atrophy, contractures, and cardiomyopathy (source)
Common symptoms
Muscle weakness and atrophy in humeroperoneal regionscontractures of the elbowachilles tendonand upper back developing in late childhood or early adolescencepalpitationsfatiguepoor exercise toleranceand arrhythmias can develop in the 20s
When to suspect
Recommendation 1
Absence of emerin on tissue biopsy, DNA testing, EMG
How to test
Recommendation 1
Absence of emerin on tissue biopsy, DNA testing, EMG
ZebraMD is partnering with Ambry Genetics for clinical-grade whole genome testing for rare diseases. Ambry accepts insurance. If you don’t have a physician to order this test, join our referral list and our team will reach out.
Treatment
Recommendation 1
Symptomatic treatment
Further support
Recommendation 1
Cardiologist, genetic counselor. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health.
Clinical trials
Clinical Trials
Sources
No data available
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