Autosomal recessive spinocerebellar ataxia-34 (SCAR34) is characterized by the onset of slowly progressive cerebellar ataxia in infancy or early childhood. Affected individuals show motor delay with delayed walking (around 5 to 6 years), unsteady wide-based gait, dysarthria, dysmetria, nystagmus, abnormal smooth pursuit, intention tremor, and dysdiadochokinesia. Some patients may also have hypotonia, spasticity, or other movement abnormalities. Almost all patients have impaired intellectual development with speech delay, although the severity is highly variable. Brain imaging shows cerebellar atrophy (summary by Kaiyrzhanov et al., 2024).
For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (224050). [from
OMIM]