Spinocerebellar ataxia [DS:H00063] Dentatorubropallidoluysian atrophy [DS:H00060] Friedreich ataxia [DS:H00067] Ataxia with isolated vitamin E deficiency [DS:H00981] Ataxia with ocular apraxia [DS:H00848] Autosomal recessive spastic ataxia of Charlevoix-Saguenay [DS:H01170]
Description
Spinocerebellar degenerations are neurodegenerative diseases that involve the cerebellum, brain stem, spinal cord, and basal ganglia to various degrees. Patients display limb and truncal ataxia, dysarthria, dysphagia, extrapyramidal sign, pyramidal sign, and autonomic disorder. Spinocerebellar degeneration includes both sporadic and hereditary forms. Most cases of sporadic spinocerebellar degeneration are now considered to be multiple system atrophy (MSA). Hereditary spinocerebellar degeneration includes autosomal dominant types and autosomal recessive types.
Category
Neurodegenerative disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Movement disorders
8A03 Ataxic disorders
H01616 Spinocerebellar degeneration
Comment
Autosomal dominant type: Spinocerebellar ataxia (SCA), Dentatorubropallidoluysian atrophy (DRPLA)
Autosomal recessive type: Friedreich ataxia (FA), Ataxia with isolated vitamin E deficiency (AVED), Ataxia with ocular apraxia (AOA), Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
