Autosomal recessive ataxia, Beauce type

Get in touch with RARE Concierge.

Contact RARE Concierge

Autosomal recessive ataxia, Beauce type

Synonyms: ARCA1 | Autosomal recessive cerebellar ataxia type 1 | SCAR8

A rare disorder characterised by a slowly progressive pure cerebellar ataxia associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is autosomal recessive. Positional cloning has led to the identification of several <i<SYNE1 gene mutations.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version March 2024

Newly diagnosed with
Autosomal recessive ataxia, Beauce type?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Clinical Trials

For a list of clinical trials in this disease area, please click here.