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.
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: Kathrin Arning; Dennis Naleschinski; Rainer Maag; Marieke Biegstraaten; Peter Kropp; Jürgen Lorenzen; Carla E M Hollak; Ivo N van Schaik; Pontus Harten; Rainald A Zeuner; Andreas Binder; Ralf Baron Journal: J Neurol Date: 2012-08-10 Impact factor: 4.849
Authors: Linda van der Tol; Camiel Verhamme; Ivo N van Schaik; Anneke J van der Kooi; Carla E M Hollak; Marieke Biegstraaten Journal: JIMD Rep Date: 2015-11-14
Authors: Fay E Bolsover; Elaine Murphy; Lisa Cipolotti; David J Werring; Robin H Lachmann Journal: J Inherit Metab Dis Date: 2013-08-16 Impact factor: 4.982