Richards-Rundle syndrome

From WikiMD's WELLNESSPEDIA

Other Names: RRS; Ataxia-deafness-retardation syndrome with ketoaciduria; Familial ataxia-hypogonadism syndrome; Ketoaciduria-mental deficiency syndrome; Ketoaciduria - intellectual disability - ataxia - deafness; Ketoaciduria-intellectual disability-ataxia-deafness 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.

NIH genetic and rare disease info[edit]

NIH info on Richards-Rundle syndrome

Richards-Rundle syndrome is a rare disease.

Rare and genetic diseases

Rare diseases - Richards-Rundle syndrome

A-Z list of rare diseases	* 0-9 \| A - B - C - D - E - F - G - H - I - J - K - L - M - N - O - P - Q - R - S - T - U - V - W - X - Y - Z
Also see	* Comprehensive list of genetic and rare diseases
Resources	* NIH GARD, US Genetic and Rare Diseases Info Rare Disease Day Undiagnosed Diseases Network Database of rare diseases at Orphanet Rare Disease UK Rare diseases search engine

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