Spinocerebellar degeneration and corneal dystrophy
Alternate names
Corneal cerebellar syndrome; Spinocerebellar degeneration corneal dystrophy; Der kaloustian Jarudi Khoury syndrome
Definition
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.
NIH genetic and rare disease info
Spinocerebellar degeneration and corneal dystrophy is a rare disease.
Resources
Frequently asked questions
Additional resources | |
|---|---|
Spinocerebellar degeneration and corneal dystrophy | |
| Videos | |
| About WikiMD |  |
 | This Spinocerebellar degeneration and corneal dystrophy article is a stub. You can help WikiMD by expanding it. |
Navigation: Wellness - Encyclopedia - Health topics - Disease Index - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro) available.
Advertise on WikiMD
WikiMD is not a substitute for professional medical advice. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.Contributors: Deepika vegiraju
