Key result
Distal myopathy with rimmed vacuoles primarily manifests as bilateral foot drop and anterior leg muscle involvement.
Why the study?
Distal myopathy with rimmed vacuoles (DMRV) is a rare autosomal recessive myopathy predominantly reported in the Japanese population, with limited clinical characterization in other populations such as India.
Population
23 patients with DMRV at a tertiary national referral center in south India
Design
Case series observational study
Follow-up
3 years
Authors
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DMRV may occur in south Indian patients; extends geographic spectrum beyond Japanese predominance but leaves open need for genetic confirmation.
Observational (n=23)
No
This case series characterizes the clinical, MRI, and histopathological features of Distal myopathy with rimmed vacuoles (DMRV) in an Indian cohort, highlighting progressive foot drop and quadriceps sparing.
Nalini et al. (2010) conducted an observational in Distal myopathy with rimmed vacuoles (DMRV) (n=23). Distal myopathy with rimmed vacuoles was evaluated on Clinical characteristics, muscle MRI findings, and histopathological features. In 23 patients with distal myopathy with rimmed vacuoles, the predominant initial manifestation was bilateral foot drop, with muscle MRI showing classical involvement of anterior lower leg muscles.
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