Autosomal recessive spastic ataxia of Charlevoix-Saguenay
| Autosomal recessive spastic ataxia of Charlevoix-Saguenay | |
|---|---|
| Other names | Autosomal recessive spastic ataxia type 6 |
 | |
| This condition is inherited in an autosomal recessive manner | |
| Specialty | Neurology  |
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a very rare neurodegenerative genetic disorder that primarily affects people from the Charlevoix and Saguenay–Lac-Saint-Jean regions of Quebec or descendants of native settlers in this region.[1][2] This disorder has also been demonstrated in people from various other countries including India, Turkey, Japan, the Netherlands, Italy, Belgium, Finland, France, and Spain.[3][4] The prevalence has been estimated at 1 in 1,900 in Quebec, but it is very rare elsewhere.[4]
Symptoms and signs
[edit]ARSACS is usually diagnosed in early childhood, approximately 12–24 months of age when a child begins to take their first steps. At this time, it manifests as a lack of coordination and balance resulting in frequent falls. Some of the signs and symptoms include:[5]
- stiffness of the legs
- appendicular and trunk ataxia
- hollow foot and hand deformities
- ataxic dysarthria
- distal muscle wasting
- horizontal gaze nystagmus
- spasticity[6]
Genetics
[edit]The inheritance pattern is autosomal recessive. The disorder is caused by mutations in the SACS gene on chromosome 13.[7] It is unclear as to how these mutations affect the central nervous system (CNS) and skeletal muscles presenting in the signs and symptoms of ARSACS.[8]
Diagnosis
[edit]![[icon]](/wiki/File:Wiki_letter_w_cropped.svg){kind=small} | This section is empty. You can help by adding to it. (March 2018) |
Prognosis
[edit]Most patients begin to use a wheelchair for movement around age 30–40.[9] Death usually occurs in their 60s, but some have been reported to live longer.[4]
References
[edit]- ^ Bouchard JP, Richter A, Mathieu J, Brunet D, Hudson TJ, Morgan K, Melançon SB (October 1998). "Autosomal recessive spastic ataxia of Charlevoix-Saguenay". Neuromuscular Disorders. 8 (7): 474–9. doi:10.1016/S0960-8966(98)00055-8. PMID 9829277. S2CID 21219526.
- ^ Bouchard JP, Barbeau A, Bouchard R, Bouchard RW (February 1978). "Autosomal recessive spastic ataxia of Charlevoix-Saguenay". The Canadian Journal of Neurological Sciences. 5 (1): 61–9. doi:10.1017/S0317167100024793. PMID 647499.
- ^ Menon M, Shaji C, Kabeer K, Parvathy G (2016). "SACS gene-related autosomal recessive spastic ataxia of Charlevoix-Saguenay from South India". Archives of Medicine and Health Sciences. 4: 122–4. doi:10.4103/2321-4848.183359.
- ^ a b c "Autosomal recessive spastic ataxia of Charlevoix Saguenay". www.orpha.net. Retrieved 2017-01-19.
- ^ "Muscular Dystrophy Canada:Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)" (PDF). Archived from the original (PDF) on 2011-07-25. Retrieved 2011-05-12.
- ^ Vermeer S, van de Warrenburg BP, Kamsteeg EJ, et al. (1993–2020). "ARSACS". In Adam MP, Ardinger HH, Pagon RA, et al. (eds.). GeneReviews. University of Washington, Seattle. PMID 20301432. NBK1255.
- ^ "270550 - SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE; SACS". omim.org. Retrieved 2017-01-19.
- ^ "Genetics Home Reference: SACS". U.S. National Library of Medicine. Retrieved 2011-05-12.
- ^ Reference, Genetics Home. "ARSACS". Genetics Home Reference. Retrieved 2017-01-19.