Spinocerebellar degeneration-corneal dystrophy syndrome

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Spinocerebellar degeneration-corneal dystrophy syndrome

Synonyms: Der Kaloustian-Jarudi-Khoury syndrome

A rare genetic neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy manifesting with bilateral corneal opacities (which lead to severe visual impairment) mild intellectual disability ataxia gait disturbances and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face ptosis low-set posteriorly angulated ears and micrognathia) as well as mild upper motor neuron involvement with hypertonia lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.

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Advocacy Organizations

National Ataxia Foundation

The National Ataxia Foundation (NAF) was established in 1957 to help persons with Ataxia and their families. Our mission is to accelerate the development of treatments and a cure while working to improve the lives of those living with Ataxia. NAF’s vision of a world without Ataxia will be accomplished through our primary programs of funding Ataxia research, providing vital programs and services fo

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