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[Neuropathy and Fabry's disease. Report of five cases]
Paula Jara1, José Manuel Matamala1, Renato Verdugo1
1Departamento de Neurología y Psiquiatría, Clínica Alemana de Santiago, Universidad del Desarrollo, Santiago, Chile.
Revista Medica De Chile
|February 7, 2019
Summary
Fabry's disease, a lysosomal storage disorder, presents with early neuropathic symptoms. This study details neurophysiological findings in five adult patients, highlighting the disease's systemic impact.
Area of Science:
- Genetics and rare diseases
- Neurology
- Metabolic disorders
Background:
- Fabry disease is an X-linked lysosomal storage disorder due to alpha-galactosidase A deficiency.
- It affects multiple organ systems, with symptoms like neuropathy, skin lesions, and cardiac and renal complications.
- Disease progression is typically more severe in males, impacting life expectancy.
Observation:
- This report focuses on five adult patients (21-56 years) with Fabry disease and a family history.
- Detailed neuropathic symptoms were observed in these patients.
- Neurophysiological testing included nerve conduction studies, quantitative sensory testing, autonomic function tests, and sympathetic skin response.
Findings:
- The study presents comprehensive neurophysiological data from the five Fabry disease patients.
- Findings elucidate the specific patterns of nerve dysfunction and autonomic impairment.
- Results correlate clinical presentation with objective neurophysiological measures.
Implications:
- Understanding neurophysiological deficits is crucial for early diagnosis and management of Fabry disease.
- This data can inform the development of targeted therapies for neuropathic complications.
- The findings contribute to a better comprehension of the disease's multisystemic nature and progression.