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Current perception threshold testing in Fabry's disease
Author(s) -
Ro LongSun,
Chen SienTsong,
Tang LokMing,
Hsu WenChuin,
Chang HongShiu,
Huang ChinChang
Publication year - 1999
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/(sici)1097-4598(199911)22:11<1531::aid-mus7>3.0.co;2-o
Subject(s) - fabry disease , medicine , quantitative sensory testing , renal function , globotriaosylceramide , disease , sensory threshold , audiology , gastroenterology , sensory system , psychology , cognitive psychology , cognitive science
We investigated 16 patients with Fabry's disease (eight hemizygous men and eight heterozygous women) in one family. We used constant current perception threshold (CPT) testing, which evaluated three major sensory nerve fiber populations, to assess subjective complaints of pain and paresthesias. We also examined clinical and biochemical features and compared the values of CPTs and nerve conduction studies (NCS) in detecting the sensory neuropathy. Our results showed that CPT testing at low frequencies (5 and 250 Hz) was significantly more sensitive than at a higher frequency (2 kHz) and NCS in detecting sensory neuropathy in patients with Fabry's disease. However, there was no correlation between CPT testing and clinical symptom scores, duration of disease, creatinine clearance (Ccr) values or α‐galactosidase A (AGA) activities in either hemizygous or heterozygous patients. Hemizygous patients clinically demonstrated more severe symptom scores, poorer renal function, and higher prevalence of hypohidrosis and corpora angiokeratomas than did heterozygous patients, which indicates that detailed clinical examinations can differentiate the clinical status of hemizygous men from heterozygous women. There were no associations between the biochemical levels of serum AGA activity and renal function (Ccr values) or the symptom scores (grading of acroparesthesia), indicating that biochemical parameters do not predict clinical severity. © 1999 John Wiley & Sons, Inc. Muscle Nerve 22: 1531–1537, 1999