Spectrin-associated autosomal recessive cerebellar ataxia

Get in touch with RARE Concierge.

Contact RARE Concierge

Spectrin-associated autosomal recessive cerebellar ataxia

Synonyms: Autosomal recessive spinocerebellar ataxia type 14 | Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome | SCAR14 | SPARCA | SPARCA1 | Spectrin-associated autosomal recessive cerebellar ataxia type 1

Spectrin-associated autosomal recessive cerebellar ataxia is a rare genetic neurological disease due to SPTBN2 mutations characterized by global development delay in infancy followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia mild to severe intellectual disability development of cerebellar atrophy and abnormal eye movements (including a convergent squint hypometric saccades jerky pursuit movements and incomplete range of movement).

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 September 2023.

Newly diagnosed with
Spectrin-associated autosomal recessive cerebellar ataxia?

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

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.