Muscular dystrophy | Duchenne | Proximal muscle weakness progressing to respiratory failure | Dilated (common) | VT | − |
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Becker | Similar to Duchenne, but later onset and less severe course |
Emery–Dreifuss | Contractures (Achilles tendons, elbows and cervical spine) plus humeroperoneal weakness and atrophy | Dilated (rare) | AV block, atrial flutter, AFib, VT | + |
ECG, echocardiography and ambulatory ECG every 1 yr in autosomal dominant and X-linked recessive EDMD ECG and ambulatory ECG every 1 yr in autosomal recessive EDMD
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Limb–girdle muscular dystrophy | LGMD1B–E and LGMD2B–I | Proximal muscle weakness of pelvic and shoulder girdles | Dilated | AV block, AT, VT | + (LGMD1B) |
ECG and echocardiography every 2 yr in asymptomatic patients (for all types of limb–girdle muscular dystrophy except LGMD1B) or every 1 yr if cardiac findings are present ECG and ambulatory ECG every 2 yr in asymptomatic LGMD1B or every 1 yr if cardiac findings are present Symptoms should prompt additional investigations
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Myotonic dystrophy | DM1 | Muscle weakness (facial, neck and distal limb) and myotonia | Dilated, hypertrophic | AFib, atrial flutter, VT | + |
ECG and ambulatory ECG every 1 yr plus echocardiography every 2–4 yr in asymptomatic patients Patients with palpitations, dizziness, syncope, PR interval > 240 ms, QRS duration > 120 ms or AV block should be considered for an EP study Serial exercise stress testing in young patients with DM1
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DM2 | Muscle weakness (facial, neck and distal limb) and myotonia | Rare | Rare | − |
Mitochondrial myopathy | Barth | Neutropenia, proximal skeletal muscle weakness and growth restriction since birth | Dilated, hypertrophic | VT | + |
ECG and echocardiography every 6 mo plus ambulatory ECG every 1 yr in asymptomatic infants ECG, echocardiography and ambulatory ECG every 1 yr in asymptomatic boys
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Friedreich ataxia | Ataxia, spasticity, scoliosis, sensory dysfunction and diabetes | Hypertrophic | AFib, atrial flutter, AT | − |
ECG and echocardiography every 1 yr in asymptomatic patients Ambulatory ECG every 1–4 yr in asymptomatic patients Symptoms should prompt ambulatory ECG monitoring
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Myofibrillar myopathy | Slowly progressive muscle weakness involving distal and proximal muscles | Dilated, hypertrophic | AV block, AT, AFib, VT | − |
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