Progressive external ophthalmoplegia-myopathy-emaciation syndrome
Synonyms: Mitochondrial DNA maintenance syndrome due to MGME1 deficiency | PEO-myopathy-emaciation syndrome | mtDNA maintenance syndrome due to MGME1 deficiency
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
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