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Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency

Disease definition

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.

ORPHA:324262

Classification level: Subtype of disorder
  • Synonym(s):
    • Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency
    • Autosomal recessive spinocerebellar ataxia type 13
    • SCAR13
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: G11.1
  • OMIM: 614831
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

Professionals

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