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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
  • ICD-11: LD2H.Y
  • OMIM: 245100
  • UMLS: C0796136
  • MeSH: C535674
  • GARD: 8423
  • MedDRA: -

  A summary on this disease is available in Deutsch (2003) Español (2014) Français (2014) Italiano (2014) Nederlands (2014) Polski (2014, pdf)

Detailed information

General public

Guidelines

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

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.