/mitochondrial DNA depletion syndrome 11

mitochondrial DNA depletion syndrome 11

Rare Disease

MONDO:0014039

Also Known As

MGME1 mitochondrial DNA depletion syndromePEO-myopathy-emaciation syndromemitochondrial DNA depletion syndrome 11mitochondrial DNA depletion syndrome caused by mutation in MGME1mitochondrial DNA depletion syndrome type 11mitochondrial DNA maintenance syndrome due to MGME1 deficiencymtDNA maintenance syndrome due to MGME1 deficiencyMTDPS11progressive external ophthalmoplegia-myopathy-emaciation syndrome

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.