/Richards-Rundle syndrome

Richards-Rundle syndrome

Rare Disease

MONDO:0009493

Also Known As

Richards-Rundle syndromeketoaciduria-intellectual disability-ataxia-deafness syndromeRICHARDS-RUNDLE syndromeRRNSataxia-deafness-intellectual disability syndromeataxia-deafness-mental retardation syndromeataxia-deafness-retardation syndrome with ketoaciduriafamilial ataxia-hypogonadism syndromeketoaciduria - intellectual disability - ataxia - deafnessketoaciduria-mental deficiency 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.