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Spinocerebellar Ataxia (SCA)

A group of inherited progressive ataxias affecting the cerebellum and connected systems.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Nöroloji department. Book Appointment →

What is Spinocerebellar Ataxia (SCA)?

Spinocerebellar ataxia (SCA) is a heterogeneous group of more than 50 different genetic subtypes of autosomal dominant inherited progressive cerebellar disease. SCA1, SCA2, SCA3 (Machado-Joseph disease), SCA6 and SCA7 are the most common; the underlying mechanism is most often CAG repeat expansion (polyglutamine disease) or non-coding repeat expansion.

Clinical onset is usually 20-50 years, but onset age varies greatly between subtypes. SCA3 is the most common SCA worldwide; SCA1 and SCA2 are also very widespread. The 'anticipation' phenomenon (clinical onset is earlier in successive generations) is observed in CAG repeat expansion type SCAs.

Cardinal findings: progressive cerebellar ataxia (gait, limb, trunk), cerebellar dysarthria, oculomotor abnormalities (saccadic dysmetria, slow saccades, nystagmus). Subtype-specific additional findings: SCA1 (pyramidal), SCA2 (slow saccades, neuropathy), SCA3 (ophthalmoparesis, parkinsonism, dystonia), SCA6 (pure cerebellar), SCA7 (pigmentary retinopathy + ataxia). Diagnosis: clinical + family history + MRI (cerebellar atrophy) + genetic testing. No disease-modifying treatment; symptomatic and supportive care, gene-targeted therapies in clinical trials (antisense oligonucleotide for SCA3).

Symptoms

Progressive gait imbalance
Frequent falls
Cerebellar dysarthria (slurred, scanning speech)
Tremor in arms and legs (intention tremor)
Dysmetria (uncoordinated movement)
Nystagmus, oculomotor abnormalities
Slow saccades (especially SCA2)
Ophthalmoparesis (SCA3)
Spasticity, hyperreflexia (SCA1, SCA3)
Dystonia, parkinsonism (SCA3)
Visual loss (SCA7, retinopathy)
Sphincter dysfunction (advanced)
Dysphagia
Cognitive disturbances
Sleep disorder, depression

Risk Factors

Family history (autosomal dominant)
CAG repeat expansion
Genetic anticipation
Mean age at onset 20-50
Founder effect in certain populations (Azores SCA3)
Variable phenotype (within same family)

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Persistent imbalance and frequent falls
  • Newly developed coordination disorder
  • Slurred speech
  • Difficulty with eye movements
  • Family ataxia history
  • Hand and leg tremor
  • Visual loss (especially in SCA7 type)
  • Genetic counselling for family members

Treatment Methods

01
Detailed neurological examination
02
Brain MRI (cerebellar atrophy)
03
Family history (pedigree)
04
Genetic testing (SCA panel, CAG repeat analysis)
05
Pre-symptomatic genetic counselling
06
Symptomatic treatment (no curative)
07
Physiotherapy and balance training
08
Speech-language and swallowing therapy
09
Riluzole, varenicline (limited effect)
10
Dystonia: trihexyphenidyl, botulinum toxin
11
Spasticity: baclofen, tizanidine
12
Tremor: propranolol, primidone
13
Depression and sleep disorder treatment
14
Walking aids and home modification
15
Antisense oligonucleotide (SCA3, in clinical trial)
16
Gene therapy (in development)

Which Department to Visit?

You can visit our Nöroloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.