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Magill’s Medical Guide, 9th Edition

Spinocerebellar ataxia

by Michael A. Buratovich, PhD

Category: Disease/Disorder

Also known as: Olivopontocerebellar atrophy, Maria’s ataxia, Cerebellar degeneration

Anatomy or system affected: Arms, brain, eyes, feet, hands, head, legs, muscles, musculoskeletal system, nerves, nervous system

Specialties and related fields: Genetics, occupational health, ophthalmology, optometry, physical therapy, speech pathology

Definition: A group of inherited diseases that cause degeneration in the brain and spinal cord, resulting in progressive loss of coordination.

Key terms:

ataxia: poor coordination and unsteadiness that result from damage to the brain

dysarthria: speech disorder as a result of nerve damage

macular degeneration: damage to the photoreceptors in the retina that causes loss of vision in the center of the visual field

CAUSES AND SYMPTOMS

Located at the base of the brain, the cerebellum receives neural input from the overlying cerebral hemispheres, spinal cord, and sensory receptors, and integrates these inputs in order to precisely coordinate movement. Damage to the cerebellum causes dizziness, nausea, poor balance, and coordination problems.

Information on Spinocerebellar Ataxia

Causes: Inherited mutations in various genes that cause the death of brain cells

Symptoms: Symptoms vary but they have in common progressive loss of coordination and tremors

Duration: Onset of symptoms varies; disease lasts a lifetime

Treatments: Physical and occupational therapy, speech pathology, supportive devices to help with movement

Spinocerebellar ataxia (SCA) is a group of hereditary diseases of the nervous system characterized by the progressive onset of ataxia or inability to coordinate muscle movements. The symptoms of SCA are a consequence of gradual, progressive damage to the cerebellum.

Over 30 different types of SCA have been described, and they are named SCA1, SCA2, and so on. Mutations in distinct genes cause the different types of SCAs, and their inheritance patterns also vary.

The specific symptoms of each type of SCA vary as do the age when symptoms first appear, but virtually all of them cause ataxia and tremors. For example, people with SCA1 begin with an abnormal gait and gradually progress into ataxia of all four limbs and speech problems (dysarthria). Within 15-20 years, the disease confines most patients to a wheelchair. SCA2 has similar symptoms except that the fast, jerky movements the eyes make when changing their focus from one object to another (saccades) significantly slow. In addition to ataxia, SCA7 causes macular degeneration and blindness, and SCA10 and 17 cause seizures.

TREATMENT AND THERAPY

Diagnosis of SCA requires brain imaging, which can detect atrophy of the cerebellum, the symptoms of the patient, and, since these diseases are inherited, their family history. However, because the symptoms of these diseases show so many similarities, molecular genetic tests remain the only way to definitively determine which type of SCA ails a patient.

No cure exists for SCA, and treatments consist of addressing symptoms. Balance and mobility problems may require a cane, walker, or wheelchair. Physical therapy has been shown to improve mobility for patients, and occupational therapy can also assist patients with independent living. Speech pathology can also help with speech problems. Sleep disorders afflict some SCA patients, and prescribed sleep aids may provide relief.

Experimental treatments with stem cell transplantations have shown promise in laboratory animals, and a small clinical trial in China with umbilical cord stem cells showed definite promise, but such treatments remain in the experimental stages.

See also Genetic counseling; Neurology; Occupational health; Quadriplegia; Terminally ill: extended care

For Further Information:

1 

Hong, Sunghoi, ed. Ataxia: Causes, Symptoms and Treatment. Hauppauge, NY: Nova Science Publishers, 2012.

2 

McArthur, Sara. Ataxia: How I Had to Cope with an Untreatable, Incurable Neurodegenerative Cerebellum Disease. Frederick, MD: PublishAmerica, 2010.

3 

Schuman, Tammy L. Scooter Sagas: Coping With Ataxia. Bloomington, IN: iUniverse, 2013.

Citation Types

Type
Format
MLA 9th
Buratovich, Michael A. "Spinocerebellar Ataxia." Magill’s Medical Guide, 9th Edition, edited by Anubhav Agarwal,, Salem Press, 2022. Salem Online, online.salempress.com/articleDetails.do?articleName=MMG2022_1272.
APA 7th
Buratovich, M. A. (2022). Spinocerebellar ataxia. In A. Agarwal, (Ed.), Magill’s Medical Guide, 9th Edition. Salem Press. online.salempress.com.
CMOS 17th
Buratovich, Michael A. "Spinocerebellar Ataxia." Edited by Anubhav Agarwal,. Magill’s Medical Guide, 9th Edition. Hackensack: Salem Press, 2022. Accessed September 16, 2025. online.salempress.com.