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Richards-Rundle syndrome

Disease 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.

ORPHA:1399

Classification level: Disorder
  • Synonym(s):
    • Ketoaciduria-intellectual disability-ataxia-deafness syndrome
    • Ketoaciduria-intellectual disability-ataxia-hearing loss syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy
  • ICD-10: G60.2
  • OMIM: 245100
  • UMLS: C0796136
  • MeSH: C535674
  • GARD: 8423
  • MedDRA: -

Detailed information

Professionals

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.