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 deficien...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Brain & development (Tokyo. 1979) 1994-09, Vol.16 (5), p.393-395
Hauptverfasser:	Tsao, Chang Y., Wright, Francis S., Boesel, Carl P., Luquette, Mark
Format:	Artikel
Sprache:	eng
Schlagworte:	Athetosis - enzymology Athetosis - pathology Athetosis - physiopathology Athetotic movement Biological and medical sciences Cerebellar Ataxia - enzymology Cerebellar Ataxia - pathology Cerebellar Ataxia - physiopathology Cerebral Palsy - enzymology Cerebral Palsy - pathology Cerebral Palsy - physiopathology Child Diseases of striated muscles. Neuromuscular diseases Humans Male Medical sciences Mitochondria, Muscle - enzymology Mitochondrial Myopathies - enzymology Mitochondrial Myopathies - pathology Mitochondrial Myopathies - physiopathology Mitochondrial myopathy Motor Skills - physiology Muscle Spasticity - enzymology Muscle Spasticity - pathology Muscle Spasticity - physiopathology Muscles - enzymology Muscles - pathology NADH dehydrogenase deficiency NADPH Dehydrogenase - deficiency Neurology Spastic cerebral palsy
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Beschreibung
Zusammenfassung:	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.
ISSN:	0387-7604 1872-7131
DOI:	10.1016/0387-7604(94)90127-9