Spastic ataxia Charlevoix-Saguenay type

A complex hereditary NEURODEGENERATIVE DISORDER that exhibits autosomal recessive inheritance. Onset is typically in early childhood and is characterized b CEREBELLAR ATAXIA; PYRAMIDAL TRACT signs, and PERIPHERAL NEUROPATHY. Most patients become wheelchair-bound, but cognitive function is usually not affected. Some patients may have atypical features, such as later onset or initial presentation of peripheral neuropathy. Mutations in the SACS gene have been identified. OMIM: 270550

Also Known As:

ARSACS; Autosomal recessive spastic ataxia of Charlevoix-Saguenay; Charlevoix-Saguenay spastic ataxia; SPAX6; Spastic Ataxia, Charlevoix-Saguenay Type; Spastic ataxia 6, autosomal recessive; Spastic ataxia of Charlevoix-Saguenay

Musculoskeletal Diseases: 751
- Muscular Diseases: 10368
  - Muscle Spasticity: 3189
    - Spastic ataxia Charlevoix-Saguenay type: 85
Nervous System Diseases: 14737
- Neurodegenerative Diseases: 44095
  - Nervous System Heredodegenerative Disorders: 62
    - Spinocerebellar Degenerations: 355
      - Spinocerebellar Ataxias: 2124
        Spastic ataxia Charlevoix-Saguenay type: 85
- Neurologic Manifestations: 7223
  - Dyskinesias: 7933
    - Ataxia: 6487
      - Cerebellar Ataxia: 1566
        Spinocerebellar Ataxias: 2124
        Spastic ataxia Charlevoix-Saguenay type: 85
  - Neuromuscular Manifestations: 24
    - Muscle Hypertonia: 185
      - Muscle Spasticity: 3189
        Spastic ataxia Charlevoix-Saguenay type: 85
- Central Nervous System Diseases: 4371
  - Brain Diseases: 16141
    - Cerebellar Diseases: 647
      - Cerebellar Ataxia: 1566
        Spinocerebellar Ataxias: 2124
        Spastic ataxia Charlevoix-Saguenay type: 85
      - Spinocerebellar Degenerations: 355
        Spinocerebellar Ataxias: 2124
        Spastic ataxia Charlevoix-Saguenay type: 85
  - Spinal Cord Diseases: 4420
    - Spinocerebellar Degenerations: 355
      - Spinocerebellar Ataxias: 2124
        Spastic ataxia Charlevoix-Saguenay type: 85
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Neurologic Manifestations: 7223
    - Neuromuscular Manifestations: 24
      - Muscle Hypertonia: 185
        Muscle Spasticity: 3189
        Spastic ataxia Charlevoix-Saguenay type: 85
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Nervous System Heredodegenerative Disorders: 62
    - Spinocerebellar Degenerations: 355
      - Spinocerebellar Ataxias: 2124
        Spastic ataxia Charlevoix-Saguenay type: 85

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