What is the definition of Spinocerebellar Ataxia Type 5?

Spinocerebellar ataxia 5 (SCA5) is one of the many spinocerebellar ataxias, which are inherited conditions that cause degeneration of the spinal cord and cerebellum. SCA5 almost exclusively affects the cerebellum. It is considered to be a mild form that progresses slowly. The age of onset is usually between the ages of 20 and 30, but a wide range in age of onset has been reported. Signs and symptoms may include loss of coordination of the hands, arms, and legs; impaired balance when walking; and slurred speech (dysarthria). SCA5 is caused by mutations in the SPTBN2 gene and is inherited in an autosomal dominant manner.

What are the alternative names for Spinocerebellar Ataxia Type 5?

  • SCA5
  • Spinocerebellar ataxia type 5

What are the symptoms for Spinocerebellar Ataxia Type 5?

Unlike some other forms of spinocerebellar ataxia, SCA5 almost exclusively affects the cerebellum. It is generally a slowly progressive condition. Symptoms often begin in a person's 20s, but age of onset between infancy and 68 years has been reported. Signs and symptoms usually include:
  • ataxia (loss of coordination) of the hands, arms, legs, and gait
  • slurred speech (dysarthria) - usually not severe and doesn't interfere with spoken communication
  • ocular (eye) problems such as nystagmus

All known affected individuals have remained ambulatory despite having the condition for several decades. Non-cerebellar symptoms occur rarely but have included facial myokymia (spontaneous, fine muscle contractions); limited lateral gaze; tremor; writer's cramp; brisk reflexes; and impaired vibration.

  • Condition: Polyglutamine Spinocerebellar Ataxias (PolyQ SCAs)
  • Journal: International journal of molecular sciences
  • Treatment Used: Gene Therapy
  • Number of Patients: 0
  • Published —
This article discusses promising gene therapies for the treatment of patients with polyglutamine spinocerebellar ataxias (loss of movement control; PolyQ SCAs).
  • Condition: Spastic ataxia of Charlevoix-Saguenay
  • Journal: BMC neurology
  • Treatment Used: Docosahexaenoic acid
  • Number of Patients: 2
  • Published —
The study researched the use of docosahexaenoic acid for treating 2 patients with Spastic ataxia of Charlevoix-Saguenay.
Clinical Trial
  • Status: Recruiting
  • Intervention Type: Other, Diagnostic Test
  • Participants: 250
  • Start Date: September 1, 2020
Phenotypes, Biomarkers and Pathophysiology in Spastic Ataxias
Clinical Trial
  • Status: Active, not recruiting
  • Intervention Type: Other, Procedure
  • Participants: 40
  • Start Date: May 28, 2020
Integrated Functional Evaluation of the Cerebellum