[PubMed: 23355087] Chapter Notes Author History Yair Anikster, MD, PhD (2006-present) William A Gahl, MD, PhD; National Institutes of Health (2006-2013) Meral Gunay-Aygun, MD (2006-present) Marian Huizing, PhD (2013-present) Revision History 19 December [ncbi.nlm.nih.gov]

• Cerebral Palsy

  Cerebral palsy. As the neurologic symptoms of OPA3-related methylglutaconic aciduria are relatively slow to progress, especially if the optic atrophy is not recognized, the disorder may be misdiagnosed as cerebral palsy [Straussberg et al 1998]. [ncbi.nlm.nih.gov]

• Movement Disorder

  OPA3-related 3-methylglutaconic aciduria is characterized by optic atrophy and/or choreoathetoid movement disorder with onset before age ten years. [ncbi.nlm.nih.gov]

• Visual Acuity Decreased

  In 36 individuals with OPA3-related 3-methylglutaconic aciduria, visual acuity decreased with age: In two children age two years, visual acuity appeared to be normal. [ncbi.nlm.nih.gov]

• Dysarthria

  Ataxia and dysarthria causing mostly mild disability were detected in 18 of the 36 individuals reported by Elpeleg et al [1994]. Cognitive impairment is seen in some individuals. [ncbi.nlm.nih.gov]

• Choreoathetoid Movements

  OPA3-related 3-methylglutaconic aciduria is characterized by optic atrophy and/or choreoathetoid movement disorder with onset before age ten years. [ncbi.nlm.nih.gov]

• Chorea

  Most individuals have chorea, often severe enough to restrict ambulation. Some are confined to a wheelchair from an early age. [ncbi.nlm.nih.gov]

[…] of Manifestations Treatment is supportive. [ncbi.nlm.nih.gov]

The question of whether initiation of CoQ10 supplements early in the course of disease would prevent some neurologic damage remains to be answered. [ncbi.nlm.nih.gov]