Richards-Rundle syndrome

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: Richards-Rundle syndrome, ketoaciduria-intellectual disability-ataxia-deafness syndrome, RICHARDS-RUNDLE syndrome, RRNS, ataxia-deafness-intellectual disability syndrome, ataxia-deafness-mental retardation syndrome, ataxia-deafness-retardation syndrome with ketoaciduria, familial ataxia-hypogonadism syndrome

0 clinical trials for this condition and its sub-types, 0 tagged with Richards-Rundle syndrome itself.