Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome

A rare genetic neurological disorder characterized by motor developmental delay (in infancy), growth impairment and muscle weakness associated with myopathic abnormalities on muscle biopsy and EMG, as well as tremor, dysmetry, adiadochokinesia and walking disturbances associated with global or partial cerebral atrophy on brain MRI (particularly cerebellar vermis and hemispheres), with or without mild intellectual disability. Some patients also show pigmentary retinopathy.