Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency

Orpha code: 363432OMIM code: 616204

Definition

A rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected.

Disease data
Classification

Clinical subtype

Synonyms
Autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency
Autosomalna recesywna wrodzona ataksja móżdżkowa z powodu niedoboru podjednostki delta-2 jonotropowego receptora glutaminianu
SCAR18
SCAR18
ORPHA code
363432
OMIM code
616204
ICD10 code
G11.1
ICD11 code
-

No additional description.

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