Familial spasmodic dysphonia with low arylsulphatase A (ASA) level.
Two familial cases of late onset spasmodic dysphonia and low Arylsulphatase A (ASA) are reported. In one case spasmodic dysphonia was associated with negative head tremor and orthostatic tremor, both displayed postural tremor of the upper extremities. A familial predisposition for both focal dystonia and metabolic lysosomal impairment is suggested by similar observations.
Martinelli
P
P
Institute of Neurology, University of Bologna, Italy.
Montanari
M
M
Ippoliti
M
M
Mochi
M
M
Sangiorgi
S
S
Capocasa
M
M
D000368:Aged; D001132:Arm / Q000503:physiopathology; D001192:Arylsulfatases / Q000378:metabolism*; D005260:Female; D006801:Humans; D016464:Lysosomal Storage Diseases / Q000150:complications* / Q000201:enzymology / Q000235:genetics*; D008297:Male; D008538:Meige Syndrome / Q000209:etiology; D008875:Middle Aged; D010375:Pedigree; D011187:Posture; D014202:Tremor / Q000209:etiology / Q000503:physiopathology; D014827:Vocal Cords / Q000503:physiopathology; D014832:Voice Disorders / Q000209:etiology* / Q000503:physiopathology
D001192:Arylsulfatases