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Spinocerebellar ataxia type 41

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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

A summary on this disease is available in Français (2018) Español (2018) Italiano (2018) Nederlands (2018) Polski (2024)
Detailed information
General public
Article for general public
English (2021.pdf) - ERN-RND Logo ERN
Svenska (2021) - Socialstyrelsen
Guidelines
Clinical practice guidelines
Deutsch (2019.pdf) - ERN-RND Logo ERN
English (2019.pdf) - ERN-RND Logo ERN
Disease review articles
Review article
English (2013) - Orphanet J Rare Dis
Patient-Centered Outcome Measures (PCOMs)
English (2023) - PROQOLIDTM

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