Partial NADH dehydrogenase defect presenting as spastic cerebral palsy.
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.
Tsao
C Y
CY
Department of Pediatrics, Ohio State University, Children's Hospital, Columbus, 43205.
Wright
F S
FS
Boesel
C P
CP
Luquette
M
M
D001264:Athetosis / Q000201:enzymology / Q000473:pathology / Q000503:physiopathology; D002524:Cerebellar Ataxia / Q000201:enzymology / Q000473:pathology / Q000503:physiopathology; D002547:Cerebral Palsy / Q000201:enzymology* / Q000473:pathology / Q000503:physiopathology; D002648:Child; D006801:Humans; D008297:Male; D008931:Mitochondria, Muscle / Q000201:enzymology; D017240:Mitochondrial Myopathies / Q000201:enzymology* / Q000473:pathology / Q000503:physiopathology; D009048:Motor Skills / Q000502:physiology; D009128:Muscle Spasticity / Q000201:enzymology / Q000473:pathology / Q000503:physiopathology; D009132:Muscles / Q000201:enzymology / Q000473:pathology; D009252:NADPH Dehydrogenase / Q000172:deficiency*
D009252:NADPH Dehydrogenase