Nerve conduction studies, electromyography and sympathetic skin response in Fabry's disease

Gomes, Irênio; Nora, Daniel Bocchese; Becker, Jéfferson; Ehlers, João Arthur; Schwartz, Ida Vanessa Döederlein; Giugliani, Roberto; Ashton‐Prolla, Patrícia; Jardim, Laura Bannach

doi:10.1016/s0022-510x(03)00172-2

Cited by 30 publications

(29 citation statements)

References 17 publications

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“…Since the afferent and efferent pathways of the SSR are well known, it has been used in the clinical diagnosis of peripheral autonomic dysfunction for some cases. [16][17][18] Most of these previously mentioned studies have shown that increased sympathetic nervous system activity, or enhanced responsiveness to sympathetic activity, enhances symptoms in patients with FMS. Some of these studies showed elevated function in the sympathetic nervous system.…”

Section: Discussionmentioning

confidence: 99%

Evaluation of Sympathetic Skin Response and F Wave in Fibromyalgia Syndrome Patients

et al. 2011

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Section: Discussionmentioning

confidence: 99%

Evaluation of Sympathetic Skin Response and F Wave in Fibromyalgia Syndrome Patients

et al. 2011

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“…La perception qu'ont les patients des évaluations de la douleur par les médecins est également évaluée. [1,74]=45,0, P<0,005) et, contrairement aux hommes, ne remarquaient pas de diminution de l'intensité de la douleur proportionnelle à la durée de la maladie. Les patients étaient modérément satisfaits de l'évaluation de la douleur par les médecins.…”

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A Survey of the Pain Experienced by Males and Females with Fabry Disease

Gibas

Klatt

Johnson

et al. 2006

Pain Research and Management

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BACKGROUND: The clinical onset of Fabry disease, a rare, X-linked, multisystemic disorder, is marked by neuropathic pain. Males suffer extensively from this disease. Females, as genetic ‘carriers’, have traditionally been viewed as either asymptomatic or mildly afflicted with this disease.OBJECTIVES: To describe Fabry-related pain and compare experiences between the sexes. Patients’ perceptions of physician pain assessments were also examined.METHODS: A disease-specific questionnaire was accessible on-line (www.fabry.org) and mailed to 552 members of a Fabry disease support group.RESULTS: The response rate was 14.3% for the support group-based mail questionnaire. Females (58.0%) were significantly older (mean ± SD 45.9±13.5 years) than males (mean ± SD 40.0±12.1;t[86]=−2.11, P<0.05). Females were diagnosed with Fabry disease later (31.1±14.0 years) than males (24.2±11.9 years;t[86]=−2.43, P<0.05). Females (mean score for pain disability rating 3.0±1.4) suffered more extensive disability from migraine pain (mean score 2.2±1.3; F [1, 74]=45.0, P<0.005), and, unlike males, did not exhibit a decline in pain intensity with disease duration. Satisfaction with physician pain assessments was moderate.CONCLUSIONS: Contrary to the traditional view of females as carriers, females with Fabry disease experienced intense disease-related pain; pain produced comparable distress and impairment in both sexes. The diagnostic delay and absence of a decline in pain symptoms over time in females suggest additional disease burden. Females may be triply disadvantaged in the health care system due to disease rarity, devalued carrier status and sex.

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“…The sensitive disturbances that are generally present can be demonstrated by measuring sensory (pain, thermal stimuli) thresholds. Skin reflex testing may be of interest for clinical studies but does not have diagnostic value (29,30). Large nerve fibers (A␣, A␤) are generally spared in less advanced stages of FD and, therefore, deep tendon reflexes are usually conserved and nerve conduction studies as well as electromyography may not reveal abnormalities.…”

Section: Discussionmentioning

confidence: 99%

Distal extremity pain as a presenting feature of Fabry's disease

Pagnini¹,

Borsini²,

Cecchi³

et al. 2011

Arthritis Care & Research

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Objective. Fabry's disease (FD) is an X-linked lysosomal storage disease. Distal extremity pain can be an early finding and renal, cardiac, and cerebrovascular complications may lead to complications and mortality. Treatment is now available for these patients, who may not be diagnosed correctly for years if the neuropathic nature of the pain is not recognized. The aim of our study was to describe early clinical features in a cohort of patients with FD and to emphasize the importance of distal extremity pain for early diagnosis. Methods. The medical charts of 35 patients with FD followed in a single center were reviewed. When data were incomplete, a detailed pain questionnaire was sent to patients. Nonresponders were contacted by telephone. Results. Distal extremity pain was present in the majority of cases (25 of 35). The mean age at diagnosis of FD was 43.5 years (range 5-77 years). Distal extremity pain was more prevalent in males than females and occurred mostly in childhood or adolescence. When present at onset, the disease progressed with subsequent organ system involvement. Misdiagnoses were frequent and included growing pains, juvenile idiopathic arthritis, connective tissue disease, and gout.

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Nerve conduction studies, electromyography and sympathetic skin response in Fabry's disease

Cited by 30 publications

References 17 publications

Evaluation of Sympathetic Skin Response and F Wave in Fibromyalgia Syndrome Patients

Evaluation of Sympathetic Skin Response and F Wave in Fibromyalgia Syndrome Patients

A Survey of the Pain Experienced by Males and Females with Fabry Disease

Distal extremity pain as a presenting feature of Fabry's disease

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