[Spinocerebellar ataxia with monilethrix, typical facial features, and dental anomalies].
The authors present a form of heredodegenerative spinocerebellar ataxia with concomitant involvement of ectodermal structures, different from other variants. The disease was characterized by spinocerebellar ataxia (the complete form); curly, thin, short and dense hair, mikroskopically monilethrix; a characteristic face (hypertelorism, flattened and wide base of the nose, prominent nostrils, large mouth, thick lips); and abnormal teeth which were reduced in number and had gaps inbetween. The psycho intellectual development and the voice of the patient were normal. The first neurological symptomes were observed at the age of 3 years and progressively developed until now at the age of 6 years. Data necessary to establish the mode of hereditary transmission were not available.
D000293:Adolescent; D002524:Cerebellar Ataxia / Q000150:complications* / Q000175:diagnosis; D002648:Child; D002657:Child Development; D003937:Diagnosis, Differential; D005145:Face; D005260:Female; D006197:Hair; D006801:Humans; D006972:Hypertelorism / Q000150:complications; D012871:Skin Diseases / Q000150:complications*; D014071:Tooth Abnormalities / Q000150:complications*; D014831:Voice
Spinocerebellare Ataxie assoziiert mit Monilethrix, eigenartigen Gesichtszügen und Zahnanomalie