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]

[…] retardation, ATPase deficiency, lactic acidosis, hyperammonemia AR DNAJC19 defect (DCMA syndrome) 3-MGCA type V (3-MGCA-5) Dilated cardiomyopathy, ECG abnormalities, non-progressive cerebellar ataxia, Ssmall atrophic testes, cryptorchidism, growth failure, anemia [ncbi.nlm.nih.gov]

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]

The mode of inheritance and the lack of skeletal myopathy and neutropenia distinguish DCMA syndrome from Barth syndrome. [ncbi.nlm.nih.gov]

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

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]

Optic atrophy is associated with progressive, decreased visual acuity within the first years of life, sometimes associated with infantile-onset horizontal nystagmus. Most individuals have chorea, often severe enough to restrict ambulation. [ncbi.nlm.nih.gov]

Although most develop spastic paraparesis, mild ataxia, and occasional mild cognitive deficit in their second decade, the course of the disease is relatively stable. [ncbi.nlm.nih.gov]