Also pigmentary retinopathy and peripheral neuropathy. Clinical Features and Biochemical and DNA Abnormalities. Exercise intolerance with mild weakness. Afflicts infants or young children with episodes of encephalopathy, enlarged and fatty degeneration of the liver, and low carnitine in the blood. Myoclonus, epilepsy, progressive ataxia, muscle weakness and degeneration, deafness, and dementia.
All diseases listed here are mitochondrial cytopathies.
See Mitochondrial Cytopathies for a general description of mitochondrial disease. Severe lactic acidosis. Prominent ragged-red fibers. Death due to respiratory failure usually occurs prior to one year of age. Following normal early development until one year old, weakness appears and worsens rapidly, causing respiratory failure and death typically within a few years.