Spinocerebellar Ataxia (SCA)

By:Maria Celeena S. GonzalesMary Pruden Galye Y. Llagas

What is SCA?

• Spinocerebellar Degeneration is due to a genetic mutation.

• In this disease, nucleotides (a group of molecules that, when linked together, become the building blocks of DNA) repeat more often than they do in healthy people.

What is SCA?

• Usually inherited in an autosomal dominant fashion, meaning that if one of the parents has the disorder, there is about a 50 percent chance that a child will have the disease as well.

• Frequently, atrophy of the cerebellum occurs, and different ataxias are known to affect different regions within the cerebellum

Signs and Symptoms• SCA is neither gender specific nor is it age

specific, which means the symptoms could appear in anyone at any time.

• FOR MOST HEREDITARY SCA initial symptoms could also include the lack of hand-eye co-ordination, speech impairment, irregular or jerky movements, temporary paralysis in the lower limb muscles and a deformed spine.

Signs and Symptoms

• SCA results in unsteady and clumsy motion of the body due to a failure of the fine coordination of muscle movements

• For the idiophatic type of SCA symptoms may be:– Depression, spasticity, and sleep disorders

Signs and Symptoms

• A person with ataxia retains full mental capacity but may progressively lose physical control and they usually end up needing to use a wheelchair, and eventually they may need assistance to perform daily tasks.

DIAGNOSIS

• Examination by a neurologist, which includes a physical exam, family history, MRI scanning of the brain and spine, and spinal tap.

• The most precise means of identifying SCA is through DNA analysis.

TREATMENT

• There is NO known cure for Spinocerebellar Ataxia, which is a progressive and irreversible disease, although not all types cause equally severe disability.

• Treatments are directed towards alleviating symptoms, not the disease itself.

TREATMENT• Clinical trials have also revealed that

treatment for SCA could include intensive rehabilitation programs which coupled with physical and occupational therapies, can improve functional gains such as walking, and day-to-day activities.

• STEM CELL treatment– However, it is hoped that in the future treating ataxia

with stem cells will become more widely available and perhaps lessen the need to travel around the world to get the treatment that has already improved so many lives.

TREATMENT

• Adaptive devices to allow the ataxia individual to maintain as much independence as possible:– Cane, crutches, walker, or wheelchair– devices to assist with writing, feeding– and communication devices for those with

impaired speech.

Spinocerebellar ataxia type 6 autopsy photograph

the brain of an 82-year-old patient with SCA6