Cerebellar dysfunction with variable cognitive and behavioral abnormalities
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
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).
Also known as CAMTA1-related disorder, CANPMR, cerebellar ataxia, nonprogressive, with intellectual disability, cerebellar ataxia, nonprogressive, with mental retardation, cerebellar dysfunction with variable cognitive and behavioral abnormalities, non-progressive cerebellar ataxia with intellectual disability, nonprogressive cerebellar ataxia with intellectual disability — per MONDO