Key result
MMD1 is associated with worse clinical progression than MMD3, with ~90% requiring a wheelchair long-term.
Cohort (n=22)
Absolute Event Rate: 90% vs 0%
Patients with Miyoshi phenotype of distal muscular dystrophy do not appear to develop cardiological abnormalities, though MMD1 has a worse clinical course than MMD3.
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Supports serial assessments in MMD; leaves open optimal cardiac surveillance protocols pending larger studies.
Linssen et al. (2013) conducted a cohort in Miyoshi phenotype of distal muscular dystrophy (MMD) (n=22). MMD1 (dysferlin mutation) vs. MMD3 (anoctamin 5 mutation) was evaluated on Wheelchair use within 15 years after disease onset. Patients with MMD1 had a worse clinical course than those with MMD3, with 90% of MMD1 patients requiring a wheelchair within 15 years of onset compared to none of the MMD3 patients.
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