Mitochondrial calcium uptake 1 (MICU1) gene-related myopathy with extrapyramidal signs: A clinico-radiological case report from India

Abstract

Myopathy with extrapyramidal signs (MPXPS) is a rarely reported entity worldwide, manifesting as a muscular dystrophy with movement disorders. It results from mutations in the mitochondrial calcium uptake 1 (MICU1) gene. We hereby describe a 17-year-old boy who presented with proximal myopathy, calf muscle hypertrophy, and skeletal deformities along with choreiform movements of his upper extremities. Muscle MRI revealed a distinctively early involvement of adductors with sparing of antero-lateral compartment of thigh. This report expands the clinico-radiological presentation and to the best of our knowledge, is the first report of MICU-related MPXPS from India.

Keywords

• dystrophinopathy
• lgmd
• micu
• mitochondrial disease
• mpxps
• muscle metabolism
• muscular dystrophy