Catalog

Autosomal dominant ataxia

No MMS code

Link to WHO Definition

Autosomal dominant ataxia – http://id.who.int/icd/entity/782552318

Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterised by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA3) or may additionally involve the retina (ADCA2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA1) or may describe a cerebellar syndrome with the occurrence of epilepsy (ACDA4).