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Neuropathic symptoms and findings in women with Fabry disease.
Clin Neurophysiol. 2008 Jun; 119(6):1365-72.CN

Abstract

OBJECTIVE

To examine the neurologic and neurophysiologic findings and neurologic symptoms in 12 women with Fabry disease and to study the relationship between the subjective symptoms and the findings on the various tests done.

METHODS

Neurography, vibratory and thermal quantitative sensory testing (QST), skin biopsy for measuring intraepidermal nerve fiber density (IENFD). Heart rate variability (HRV) and sympathetic skin response (SSR) tests for detecting autonomic dysfunction, pain-, depression- and somatic symptom questionnaires and clinical examination.

RESULTS

Only two women had no persistent symptoms or signs of polyneuropathy, 10 had symptoms of small fiber neuropathy. Neurological examination was normal in most patients. Five patients had decreased IENFD or thermal hypoesthesia in QST. In QST, Adelta-fiber function for innocuous cold was more often impaired than C-fiber function. Conventional nerve conduction studies were mostly normal. Carpal tunnel syndrome (CTS) incidence was increased, 25% had symptomatic CTS.

CONCLUSIONS

Heterozygous women carrying the gene for Fabry disease have symptoms and findings of small-fiber polyneuropathy more often than has previously been considered. The prevalence of CTS is also increased.

SIGNIFICANCE

While the clinical diagnosis of small-fiber neuropathy is difficult, the diagnostic yield can be increased using a combination of thermal QST and IENFD measurements.

Authors+Show Affiliations

Department of Clinical Neurophysiology, Turku University Hospital, Kiinamyllynkatu 4-8, 20520 Turku, Finland. satu.laaksonen@utu.fiNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

18387337

Citation

Laaksonen, Satu M., et al. "Neuropathic Symptoms and Findings in Women With Fabry Disease." Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology, vol. 119, no. 6, 2008, pp. 1365-72.
Laaksonen SM, Röyttä M, Jääskeläinen SK, et al. Neuropathic symptoms and findings in women with Fabry disease. Clin Neurophysiol. 2008;119(6):1365-72.
Laaksonen, S. M., Röyttä, M., Jääskeläinen, S. K., Kantola, I., Penttinen, M., & Falck, B. (2008). Neuropathic symptoms and findings in women with Fabry disease. Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology, 119(6), 1365-72. https://doi.org/10.1016/j.clinph.2008.02.004
Laaksonen SM, et al. Neuropathic Symptoms and Findings in Women With Fabry Disease. Clin Neurophysiol. 2008;119(6):1365-72. PubMed PMID: 18387337.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Neuropathic symptoms and findings in women with Fabry disease. AU - Laaksonen,Satu M, AU - Röyttä,Matias, AU - Jääskeläinen,Satu K, AU - Kantola,Ilkka, AU - Penttinen,Maila, AU - Falck,Björn, Y1 - 2008/04/01/ PY - 2007/11/13/received PY - 2008/01/24/revised PY - 2008/02/03/accepted PY - 2008/4/5/pubmed PY - 2008/7/11/medline PY - 2008/4/5/entrez SP - 1365 EP - 72 JF - Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology JO - Clin Neurophysiol VL - 119 IS - 6 N2 - OBJECTIVE: To examine the neurologic and neurophysiologic findings and neurologic symptoms in 12 women with Fabry disease and to study the relationship between the subjective symptoms and the findings on the various tests done. METHODS: Neurography, vibratory and thermal quantitative sensory testing (QST), skin biopsy for measuring intraepidermal nerve fiber density (IENFD). Heart rate variability (HRV) and sympathetic skin response (SSR) tests for detecting autonomic dysfunction, pain-, depression- and somatic symptom questionnaires and clinical examination. RESULTS: Only two women had no persistent symptoms or signs of polyneuropathy, 10 had symptoms of small fiber neuropathy. Neurological examination was normal in most patients. Five patients had decreased IENFD or thermal hypoesthesia in QST. In QST, Adelta-fiber function for innocuous cold was more often impaired than C-fiber function. Conventional nerve conduction studies were mostly normal. Carpal tunnel syndrome (CTS) incidence was increased, 25% had symptomatic CTS. CONCLUSIONS: Heterozygous women carrying the gene for Fabry disease have symptoms and findings of small-fiber polyneuropathy more often than has previously been considered. The prevalence of CTS is also increased. SIGNIFICANCE: While the clinical diagnosis of small-fiber neuropathy is difficult, the diagnostic yield can be increased using a combination of thermal QST and IENFD measurements. SN - 1388-2457 UR - https://www.unboundmedicine.com/medline/citation/18387337/Neuropathic_symptoms_and_findings_in_women_with_Fabry_disease_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1388-2457(08)00144-2 DB - PRIME DP - Unbound Medicine ER -