Richards-Rundle syndrome
Richards-Rundle syndrome
Definition
Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria.
Also known as ketoaciduria-intellectual disability-ataxia-deafness syndrome, Richards-Rundle syndrome — per MONDO