PhenomeGene — Human Disease Gene Website SeriesSACS

Clinical Characteristics

Disease onset is typically in early childhood and progression consists in delayed acquisition of motor milestones, in particular, walking due to unsteadiness in toddlers, followed by lower-limb spasticity and peripheral neuropathy. Onset has also been observed in childhood or adolescence. Other clinical symptoms like ocular disturbances, dysarthria, and upper-limb ataxia develop at a slower rate. Finally, mild intellectual disability, hearing loss, and incontinence have also been documented in some individuals. Individuals affected by ARSACS are often wheel-chair bound by the age of 40.