Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome

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Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome

Synonyms: Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome

A rare mitochondrial myopathy characterized by motor developmental delay (in infancy) growth impairment and mostly proximal muscle weakness caused by a muscular dystrophy. Muscle biopsy presents myopathic abnormalities and decreased mtDNA content. Electromyography (EMG) shows a myopathic process and serum creatine kinase is increased. The disease is also characterized by early onset non-progressive cerebellar atrophy (particularly cerebellar vermis and hemispheres) corticospinal tract dysfunction and global or partial cerebral atrophy on brain MRI. Additionally some patients presented with cognitive deficiencies skeletal abnormalities tremors and retinopathy.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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