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Familial spasmodic dysphonia with low arylsulphatase A (ASA) level
Author(s) -
Martinelli P.,
Montanari M.,
Ippoliti M.,
Mochi M.,
Sangiorgi S.,
Capocasa M.
Publication year - 1995
Publication title -
acta neurologica scandinavica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.967
H-Index - 95
eISSN - 1600-0404
pISSN - 0001-6314
DOI - 10.1111/j.1600-0404.1995.tb00433.x
Subject(s) - spasmodic dysphonia , dystonia , medicine , physical medicine and rehabilitation , essential tremor , focal dystonia , audiology , botulinum toxin , anesthesia , psychiatry
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.