Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency

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Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency

Synonyms: Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency | Autosomal recessive spinocerebellar ataxia type 13 | SCAR13

A rare genetic slowly progressive neurodegenerative disease resulting from MGLUR1 deficiency characterized by global developmental delay (beginning in infancy) mild to severe intellectual deficit with poor or absent speech moderate to severe stance and gait ataxia pyramidal signs (e.g. hyperreflexia) and mild dysdiadochokinesia dysmetria tremors and/or dysarthria. Oculomotor signs such as nystagmus strabismus ptosis and hypometric saccades may also be associated. Brain imaging reveals progressive generalized moderate to severe cerebellar atrophy inferior vermian hypoplasia and/or constitutionally small brain.

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: // Data version October 2023.

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Advocacy Organizations

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

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

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