| Main clinical features
|
onset in the first year of life, with delayed motor development and poor growth
also tremor, dysdiadochokinesia, and dysmetria associated with cerebellar hypoplasia on brain imaging, and muscle weakness, pes cavus, and hyporeflexia
EMG showed a myopathic pattern, and muscle biopsies showed variability in fiber diameter with some dystrophic features
serum creatine kinase was increased
other features included asymmetry of the chest, with pectus excavatum, enlarged hemithorax, and scoliosis, pigmentary retinopathy |