Abstract
Mitochondrial myopathies are heterogeneous disorders. They may present at any age with a variable clinical course. We report a 6-year-old boy presenting as spastic cerebral palsy for 4 years, then athetotic movements and loss of milestones. He was eventually found to have NADH dehydrogenase deficiency.
MeSH terms
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Athetosis / enzymology
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Athetosis / pathology
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Athetosis / physiopathology
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Cerebellar Ataxia / enzymology
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Cerebellar Ataxia / pathology
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Cerebellar Ataxia / physiopathology
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Cerebral Palsy / enzymology*
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Cerebral Palsy / pathology
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Cerebral Palsy / physiopathology
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Child
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Humans
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Male
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Mitochondria, Muscle / enzymology
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Mitochondrial Myopathies / enzymology*
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Mitochondrial Myopathies / pathology
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Mitochondrial Myopathies / physiopathology
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Motor Skills / physiology
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Muscle Spasticity / enzymology
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Muscle Spasticity / pathology
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Muscle Spasticity / physiopathology
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Muscles / enzymology
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Muscles / pathology
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NADPH Dehydrogenase / deficiency*