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An autosomal dominant myopathy characterized by adulthood onset of weakness in proximal, distal, axial and respiratory muscles. Pelvic girdle weakness, foot drop and neck weakness are the main symptoms at onset, but ultimately the weakness usually involves the proximal compartment of both upper and lower limbs. Additional features include variable degrees of Achilles tendon contractures, spinal rigidity and muscle hypertrophy. Respiratory involvement often leads to requirement for non-invasive ventilation support.




Edstrom myopathy
Hereditary myopathy with early respiratory failure
Myopathy, distal, with early respiratory failure, autosomal dominant
Myopathy, proximal, with early respiratory muscle involvement


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