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Evaluation of peripheral and autonomic nerve function in Fabry disease
1Department of Neurology, University of Erlangen-Nuremberg, Erlangen, Germany. max.hilz@neuro.imed.uni-erlangen.de
Acta Paediatrica (Oslo, Norway : 1992). Supplement
|February 8, 2003
Summary
New methods effectively measure neurological dysfunction in Fabry disease patients, assessing nerve fiber damage and autonomic system impairment. These tools aid in evaluating treatment responses, particularly enzyme replacement therapy.
Area of Science:
- Neurology
- Medical Diagnostics
Background:
- Fabry disease causes neurological issues like pain and altered sensations due to small nerve fiber and autonomic system involvement.
- Standard neurophysiological tests are insufficient for evaluating Fabry disease's neurological impact.
Purpose of the Study:
- To describe methods for assessing neurological impairment in Fabry disease.
- To highlight the utility of these methods in measuring disease extent and treatment response.
Main Methods:
- Thermal provocation tests to assess temperature perception.
- Quantitative sudomotor axon reflex testing for sweat gland function.
- Venous occlusion plethysmography for limb and skin blood flow assessment.
Main Results:
- Developed methods effectively measure neurological dysfunction in Fabry disease.
- These techniques assess temperature perception, vibratory sense, sudomotor function, and vascular reactivity.
- The methods provide a comprehensive evaluation of peripheral and autonomic nervous system involvement.
Conclusions:
- Effective methods for measuring neurological involvement in Fabry disease patients have been developed.
- These methods are valuable for assessing patient response to enzyme replacement therapy.