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Spinocerebellar ataxia type 41
Disease definition
Spinocerebellar ataxia type 41 is a rare autosomal dominant cerebellar ataxia type III disorder characterized by adult-onset progressive imbalance and loss of coordination associated with an ataxic gait. Mild atrophy of the cerebellar vermis has been reported on brain magnetic resonance imaging.
ORPHA:458798
Classification level: Disorder- Synonym(s):
- SCA41
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal dominant
- Age of onset: Adult
- ICD-10: G11.2
- OMIM: 616410
- UMLS: C4225158
- MeSH: -
- GARD: -
- MedDRA: -
A summary on this disease is available in Español (2018) Français (2018) Italiano (2018) Nederlands (2018) Polski ()
Detailed information
General public
- Article for general public
- English (2021, pdf) - ERN-RND
- Svenska (2021) - Socialstyrelsen
Guidelines
- Clinical practice guidelines
- Deutsch (2019, pdf) - ERN-RND
- English (2019, pdf) - ERN-RND
Disease review articles
- Review article
- English (2013) - Orphanet J Rare Dis
Clinical Outcome Assessment (COA)
- Patient-Centered Outcome Measures (PCOMs)
- English (2023) - PROQOLIDTM


Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.