Characteristics Progressive disease, usually presenting before age 20 with pigmentary retinopathy and a cardiac conduction defect, ataxia, or raised CSF protein.
[cme.ucsd.edu]
The most typical presentation is progressive muscle disease characterized by generalized hypotonia, proximal muscle weakness, loss of previously acquired motor skills, poor
[cags.org.ae]
In one form of ‘hepatocerebral’ depletion known as Alpers’ disease or Progressive Neuronal Degeneration of Childhood (PNDC), explosive onset of seizures, developmental delay
[newcastle-mitochondria.com]
