episodic mitochondrial myopathy with optic atrophy and reversible leukoencephalopathy

Term ID

DOID:0070734

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. (2)

References

• GARD:0025221
• MIM:251900
• UMLS_CUI:C5193007

Ontology

Human Disease   ( DOID:0070734 )