Partial cytochrome b deficiency and generalized dystonia.
An 18-year-old female had clinical features of idiopathic torsion dystonia with bilateral hypodense putaminal lesions on computed tomography. Mitochondrial encephalomyopathy was suspected because of persistent lactic acidemia and myopathy. Studies of oxidative metabolism on isolated skeletal muscle mitochondria revealed partial cytochrome b deficiency indicating a defect in the cytochrome b- c1 complex. This finding represents a unique, multisystem syndrome of progressive dystonia, putaminal degeneration, myopathy, and mitochondrial cytochrome b deficiency. Mitochondrial metabolic disorders may be a cause of torsion dystonia when other known associated factors are absent.
Nigro
M A
MA
Department of Neurology, Wayne State University School of Medicine, Detroit, Michigan.
Martens
M E
ME
Awerbuch
G I
GI
Peterson
P L
PL
Lee
C P
CP
D000293:Adolescent; D003573:Cytochrome b Group / Q000172:deficiency*; D004422:Dystonia Musculorum Deformans / Q000201:enzymology*; D005260:Female; D006801:Humans; D008931:Mitochondria, Muscle / Q000201:enzymology; D009132:Muscles / Q000201:enzymology; D009410:Nerve Degeneration / Q000502:physiology; D011699:Putamen / Q000473:pathology; D013577:Syndrome
D003573:Cytochrome b Group