Presentation
[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]
Entire Body System
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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]
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Anemia
[…] 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]
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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]
Musculoskeletal
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Myopathy
The mode of inheritance and the lack of skeletal myopathy and neutropenia distinguish DCMA syndrome from Barth syndrome. [ncbi.nlm.nih.gov]
Neurologic
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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]
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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]
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Nystagmus
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]
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Ataxia
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]
Treatment
[…] of Manifestations Treatment is supportive. [ncbi.nlm.nih.gov]
Prevention
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]