Spine Archive: Spinocerebellar Ataxia

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Prenatal Genetic Testing

Genetic testing in woman as well as their partner can be a good step in family planning to screen for genetically inherited diseases that either person may be carrying. While the mom or her partner may not have a family history of genetic disease, he or she can still be a carrier of a condition that can be passed on to the child. This testing covers an array of genetically inherited diseases throughout the body, including spinal muscular atrophy in the spinal cord and other spine disorders.

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Diagnosis & Treatment of SCA

Ataxia can be onset by certain factors including but not limited to alcoholism, stroke, tumors, metabolic disorders, multiple sclerosis, vitamin deficiencies, and neuropathy. There are many types of SCA even though the symptoms are similar. Genetic testing can determine the gene that can assist in the identification in the type of SCA the patient has. In addition, the test can help determine additional carriers in the patient’s family.

Currently, there is not a known cure for SCA. However, the underlying condition is often treatable. For example, an ataxia that is brought on by a metabolic disorder can be treated through medications and a monitored diet plan. There are also a wide variety of medications that can treat body movement issues like gait. With careful monitoring by a neurologist, the patient’s symptoms can be lessened.

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Causes & Symptoms of SCA

SCA is not a gender-specific disorder. Males and females can inherit a defective gene. There are a wide range of gene mutations on various chromosomes that can cause Spinocerebellar Ataxia. Because of this, it is hard to pinpoint the frequency of the genes associated.

Patients who have SCA will develop issues with coordination early on. Often times this is characterized by abnormal hand or eye movement, speech impairment, and difficulty walking. This ataxia, or loss of body motion will also cause failure of control of the arms and legs. The result will often lead to patients having irregular movements including issues with general body movement and gait.

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Spinocerebellar Ataxia (SCA)

SCA is a genetically inherited brain and spinal cord disorder. People with SCA experience spinal cord and brain degeneration. This disorder is part of a group of disorders that are inherited as a dominant trait. This means that people who have the disorder are at a fifty-percent chance of passing SCA to a child.

Patients with SCA experience an atrophy of the brainstem affecting the cerebellum. The cerebellum is responsible for proper coordination and movement of the body. This degeneration of the brainstem and consequently, the spine can lead to spasticity. Spasticity is an unusual pulling or stiffness and is associated with paralysis, hypertonia, and increased reflexes in tendons.