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Electroneuromyographic Features in Fabry Disease: A Retrospective Review
Çetin Kürşad Akpinar1, Hande Türker2, Oytun Bayrak2
1Clinic of Neurology, Vezirköprü State Hospital, Samsun, Turkey.
Noro Psikiyatri Arsivi
|April 1, 2017
Summary
Fabry disease (FD) patients often present with neuropathic pain, but electroneuromyography (ENMG) may appear normal in early stages. Further tests like sensory and autonomic function tests are recommended for diagnosis.
Area of Science:
- Neurology
- Genetics
- Metabolic Disorders
Background:
- Fabry disease (FD) is an X-linked recessive disorder caused by alpha-galactosidase deficiency.
- Neuropathic pain is a common symptom in FD patients.
- Early diagnosis is crucial for effective management.
Purpose of the Study:
- To compare electroneuromyographic (ENMG) findings in FD patients with healthy controls.
- To investigate the utility of ENMG in diagnosing early-stage FD.
- To highlight the importance of considering FD in young patients with neuropathic pain.
Main Methods:
- ENMG was performed on 15 FD patients (13 female, 2 male) and 15 healthy controls (13 female, 2 male).
- Diagnosis of FD was confirmed by enzyme levels and genetic mutation analysis.
- Neuropathic pain was assessed using the LANSS score (≥12).
Main Results:
- No statistically significant difference in ENMG findings between FD patients and controls (p>.05).
- Routine ENMG was normal in most early-stage FD patients.
- Neuropathic pain in FD is likely due to small fiber involvement, not typically detected by standard ENMG.
Conclusions:
- ENMG may be normal in early-stage Fabry disease.
- Consider FD in young patients with neuropathic pain.
- Quantitative sensory tests, autonomic function tests, and skin biopsy are recommended for suspected FD.