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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
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Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency?
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