Key result
Limb girdle muscular dystrophy R2 and Miyoshi myopathy showed no clinically relevant difference in proximal versus distal muscle involvement, demonstrating they are the same disease.
Why the study?
The study aimed to determine whether clinically relevant phenotypic differences exist between the two most common dysferlinopathy classifications, LGMDR2 and MMD1.
Population
168 patients from the international Clinical Outcomes Study for Dysferlinopathy
Comparison
LGMDR2 vs MMD1 phenotypic classifications
Design
Cross-sectional review
Authors
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Supports LGMDR2/MMD1 continuum model; leaves open whether to unify trial stratification or management.
Cross-Sectional (n=168)
Yes
LGMDR2 and MMD1 represent a phenotypic continuum rather than distinct diseases and should not be separated for clinical management or trials.
Moore et al. (2021) conducted a cross-sectional in Dysferlinopathy (LGMDR2 and MMD1) (n=168). Limb girdle muscular dystrophy R2 (LGMDR2) diagnosis vs. Miyoshi myopathy (MMD1) diagnosis was evaluated on Pattern of muscle involvement (proximal vs distal). Limb girdle muscular dystrophy R2 and Miyoshi myopathy showed no clinically relevant difference in proximal versus distal muscle involvement, demonstrating they are the same disease.
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