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Results for Query ‹ ARCA1 screening ›
Autosomal recessive cerebellar ataxia type 1 – Diagnosis | Types
Different types of ataxia:
- congenital ataxias (developmental disorders)
- ataxias with metabolic disorders
- ataxias with a DNA repair defect
- degenerative ataxias
- ataxia associated with other features.
Autosomal recessive cerebellar ataxia type 1 – Diagnosis
Clinical diagnosis is conducted on individuals with age onset between late teens and late forties who show the initial characteristics for the recessive autosomal cerebellar ataxia.
The following tests are performed:
- MRI brain screening for cerebellum atrophy.
- Molecular genetic testing for SYNE-1 sequence analysis.
- Electrophysiologic studies for polyneurotherapy
- Neurological examination
Prenatal diagnosis and preimplantation genetic diagnosis (PGD) can be performed to identify the mothers carrying the recessive genes for cerebellar ataxia.