Spinocerebellar ataxia type 34

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Spinocerebellar ataxia type 34

Synonyms: Erythrokeratodermia with ataxia | SCA34 | Spinocerebellar ataxia and erythrokeratodermia

An autosomal dominant cerebellar ataxia type I that is characterized by papulosquamous ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia dysarthria nystagmus and decreased reflexes.

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 http: //www.orphadata.org. Data version October 2023.

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Spinocerebellar ataxia type 34?

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Advocacy Organizations

National Ataxia Foundation

The National Ataxia Foundation (NAF) was established in 1957 to help persons with Ataxia and their families. Our mission is to accelerate the development of treatments and a cure while working to improve the lives of those living with Ataxia. NAF’s vision of a world without Ataxia will be accomplished through our primary programs of funding Ataxia research, providing vital programs and services fo

Genetic Support Network of Victoria

The Genetic Support Network of Victoria is an organisation that supports people living with genetic, undiagnosed and rare conditions and those who support them including community and families, patient support organisations, health professionals and industry. Our vision is our community flourishing and living their best lives.

Clinical Trials

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