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Progressive external ophthalmoplegia-myopathy-emaciation syndrome

Disease definition

Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported.

ORPHA:352447

Classification level: Disorder
  • Synonym(s):
    • Mitochondrial DNA maintenance syndrome due to MGME1 deficiency
    • PEO-myopathy-emaciation syndrome
    • mtDNA maintenance syndrome due to MGME1 deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: G71.3
  • OMIM: 615084
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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