Synonyms:
a.k.a. MINGE, rare
Diagnosis:
Genetic analysis
Genetics:
POLG gene or Thymidine phosphorylase (TP) mutation
TP mutation: Autosomal recessive
Mitochondrial DNA (mtDNA) analysis: depletion, deletions, and point mutation
Clinical features:
External ophthalmoplegia, gastrointestinal dysmotility (dysphagia and intestinal pseudoobstruction) and pain, cachexia, peripheral neuropathy, encephalopathy
Findings on investigations:
MRI: leukoencephalopathy
Muscle biopsy: ragged red fibres
Treatment:
Peritoneal dialysis