Myoneurogastrointestinal Encephalopathy

Myoneurogastrointestinal Encephalopathy [TYMP]: Mitochondrial DNA depletion syndrome-1 (MTDPS1) is an autosomal recessive progressive multisystem disorder clinically characterized by onset between the second and fifth decades of life of ptosis, progressive external ophthalmoplegia (PEO), gastrointestinal dysmotility (often pseudoobstruction), cachexia, diffuse leukoencephalopathy, peripheral neuropathy, and mitochondrial dysfunction.

Sephardic-Mizrahi Jewish Carrier Frequency: 1 in 158