CBLL1
Cerebellar Ataxia with Deafness and Narcolepsy-Cataplexy Syndrome (CBLL1)
Description
CBLL1 is an extremely rare genetic disorder characterized by a triad of symptoms:
- Cerebellar ataxia: Difficulty with coordination and balance, often affecting walking, speech, and fine motor skills.
- Deafness: Progressive hearing loss, typically starting in childhood.
- Narcolepsy-cataplexy: A sleep disorder involving excessive daytime sleepiness and episodes of sudden loss of muscle tone (cataplexy).
Associated Diseases
CBLL1 is associated with several other neurological and genetic conditions, including:
- Spinocerebellar ataxia (SCA6)
- Friedreich's ataxia
- Joubert syndrome
- Ophthalmoplegia
Did you Know ?
CBLL1 affects an estimated 1 in 1,000,000 individuals worldwide.
