cerebellar dysfunction with variable cognitive and behavioral abnormalities

Rare Disease

MONDO:0013886

Also Known As

CAMTA1-related disorderCANPMRcerebellar ataxia, nonprogressive, with intellectual disabilitycerebellar ataxia, nonprogressive, with mental retardationcerebellar dysfunction with variable cognitive and behavioral abnormalitiesnon-progressive cerebellar ataxia with intellectual disabilitynonprogressive cerebellar ataxia with intellectual disabilitynonprogressive cerebellar ataxia with mental retardation

Definition

Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).