autosomal recessive spinocerebellar ataxia 13

Disease Overview

Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency is 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.

Synonyms

• GRM1 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome
• GRM1 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
• SCAR13
• autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome caused by mutation in GRM1
• autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome caused by mutation in GRM1
• autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
• autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency
• autosomal recessive spinocerebellar ataxia 13
• autosomal recessive spinocerebellar ataxia type 13
• spinocerebellar ataxia, autosomal recessive 13
• spinocerebellar ataxia, autosomal recessive type 13