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: 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.
  • Condition: Esotropic Patients with Spinocerebellar Ataxia (SCA)
  • Journal: Journal of pediatric ophthalmology and strabismus
  • Treatment Used: Bilateral Medial Rectus (BMR) Recession
  • Number of Patients: 15
  • Published —
This study evaluated the safety and effectiveness of bilateral medial rectus (BMR) recession (weakening of eye muscle during strabismus surgery) for the treatment of patients with spinocerebellar ataxia (SCA).
Clinical Trial
  • Status: Not yet recruiting
  • Phase: Phase 2
  • Intervention Type: Procedure, Biological
  • Participants: 45
  • Start Date: October 2021
A Clinical Research on the Safety/Efficacy of Umbilical Cord Mesenchymal Stem Cells Therapy for Patients With Spinocerebellar Ataxia
Clinical Trial
  • Status: Not yet recruiting
  • Phase: N/A
  • Intervention Type: Other
  • Participants: 20
  • Start Date: April 1, 2021
The Effectiveness of Core Stability Exercises to Improve Balance and Gait in Hereditary Ataxias. Pilot Study