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| Disease found: | Emery Dreifuss Muscular Atrophy |
| Current as of: | October 8, 2024 |
| Disease Overview: | Triad of muscle atrophy, contractures, and cardiomyopathy (source) |
| Signs and Symptoms: | Muscle weakness and atrophy in humeroperoneal regions, contractures of the elbow, achilles tendon, and upper back developing in late childhood or early adolescence; palpitations, fatigue, poor exercise tolerance, and arrhythmias can develop in the 20s |
| Diagnosis: | Absence of emerin on tissue biopsy, DNA testing, EMG |
| Treatment: | Symptomatic treatment |
| Clinical Management: | Routine echos for children to monitor for cardiac involvement, cardiac pacemaker placement if patient develops heart block |
| Referral: | Cardiologist, genetic counselor. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | Clinical trial recruiting on striated muscle laminopathies requiring muscle and skin biopsy |