syndroom van progressieve externe oftalmoplegie, myopathie en emaciatie (aandoening)
syndroom van progressieve externe oftalmoplegie, myopathie en emaciatie
Progressive external ophthalmoplegia, myopathy, emaciation syndrome
Mitochondrial DNA (deoxyribonucleic acid) maintenance syndrome due to MGME1 (mitochondrial genome maintenance exonuclease 1) deficiency
PEO (progressive external ophthalmoplegia) myopathy emaciation syndrome
A rare mitochondrial oxidative phosphorylation disorder due to nuclear deoxyribonucleic acid anomalies. The disease is 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 (nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported.
Clinical courseprogressief
Has interpretationafwezig
InterpretsMovement observable
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermMitochondriƫn-myopathie, niet elders geclassificeerd
SNOMED CT to Orphanet simple map352447
SNOMED CT to ICD-10 extended map
AdviceALWAYS G71.3
CorrelationSNOMED CT source code to target map code correlation not specified