episodic mitochondrial myopathy with optic atrophy and reversible leukoencephalopathy

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

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.

Signs and symptoms

• Highly elevated creatine kinase
• Muscle spasm
• Gowers sign
• Ketonuria
• Lower limb muscle weakness
• Myoglobinuria
• Decreased activity of mitochondrial complex II
• Waddling gait
• Proximal muscle weakness
• Limb-girdle muscle weakness

Also known as: MEOAL; MMDS8; multiple mitochondrial dysfunctions syndrome 8