Term Name:	episodic mitochondrial myopathy with optic atrophy and reversible leukoencephalopathy
Synonyms:	MEOAL, MMDS8, multiple mitochondrial dysfunctions syndrome 8
Definition:	A multiple mitochondrial dysfunctions syndrome characterized by childhood onset of progressive muscle weakness and exercise intolerance, with episodic exacerbation, that has_material_basis_in homozygous mutation in the FDX2 gene on chromosome 19p13. Additional more variable features include optic atrophy, reversible leukoencephalopathy, and later onset of a sensorimotor polyneuropathy.
Ontology:	Human Disease [DOID:0070734]   ( DOID:0070734 )