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Expanding the clinical description of autosomal recessive spastic ataxia of Charlevoix-Saguenay
- Source :
- Journal of the Neurological Sciences. 400:39-41
- Publication Year :
- 2019
- Publisher :
- Elsevier BV, 2019.
-
Abstract
- Background and purpose Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) diagnosis is based on the presence of three main clinical features: 1) ataxia, 2) pyramidal involvement, and 3) axonal neuropathy. This study aimed to explore, among a cohort of adults with ARSACS, the prevalence of other signs and symptoms than those commonly describe in this disease and compare their prevalence between younger ( Methods A clinical interview based on a standardized questionnaire was conducted. It included the following items: memory and concentration problems, hearing impairment, epilepsy, spasms, choreathetosis, neuropathic pain, cramps and fecal incontinence. Results A total of 43 participants were interviewed, with a mean age of 38.9 years and 51.2% were men. Spasms (55.8%), cramps (53.5%), and concentration problems (39.5%) were the most frequent manifestations. Except for choreathetosis, which was present in only one participant, all other signs and symptoms were present in 9.3% to 29.3% of participants. Conclusions People with ARSACS may experience many other clinical manifestations than the most commonly described. This study is a preliminary step toward the development of a comprehensive evidence-based clinical care guideline for this population.
- Subjects :
- Adult
Male
Spasm
Pediatrics
medicine.medical_specialty
Ataxia
Adolescent
Population
Disease
Young Adult
03 medical and health sciences
Epilepsy
0302 clinical medicine
medicine
Humans
Spinocerebellar Ataxias
Fecal incontinence
030212 general & internal medicine
education
Gait Disorders, Neurologic
education.field_of_study
business.industry
Guideline
Middle Aged
medicine.disease
3. Good health
Natural history
Neurology
Muscle Spasticity
Cohort
Female
Neurology (clinical)
medicine.symptom
business
Fecal Incontinence
030217 neurology & neurosurgery
Subjects
Details
- ISSN :
- 0022510X
- Volume :
- 400
- Database :
- OpenAIRE
- Journal :
- Journal of the Neurological Sciences
- Accession number :
- edsair.doi.dedup.....72d13cc557d8d2306386658fedf7a356