H01204
H number H01204
Name Cerebellar ataxia, mental retardation (MR), and dysequilibrium syndrome (CAMRQ)
Description Cerebellar ataxia, mental retardation (MR), and dysequilibrium syndrome (CAMRQ) is autosomal recessive, genetically heterogeneous conditions characterized by early onset of cerebellar ataxia and MR. Patients with CAMRQs have a severe disturbance of posture and balance, strabismus, muscular hypotonia during childhood and they have a delayed ability to walk independently. The disease is also characterized by perceptual difficulties and in most cases mild mental retardation. Four subtypes have been mapped so far.
Category Neurodegenerative disease