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Ataxia is the loss of muscle control, with hereditary and sporadic types. Hereditary ataxia can be linked to genetic mutations, while sporadic ataxia is difficult to diagnose. Diagnosis is based on neurological symptoms and ruling out other causes. Ataxia is currently incurable, but patients can adjust their lives with support and therapy.
Ataxia comes from the Greek a taxia, which literally means “no order”. It is a generic term that refers to the loss of the ability to control one’s muscles. There are a number of causes and treatments for this.
The condition can be divided into two distinct groups: sporadic and hereditary. Hereditary ataxia can usually be traced to a family history and can be linked to twenty-two genetic mutations. These mutations are labeled “spinocerebellar ataxia type 1” up to 22, simply referred to as SCA1-22 for short. Sporadic ataxia is a form that is not linked to a genetic defect.
Hereditary ataxia can be divided into types caused by a metabolic defect and those that fit the mold of a named disorder. In all cases they are inherited from a faulty gene and the identification of these genes continues at an encouraging rate. Some of the many types include Machado-Joseph disease, ataxia with ophthalmoplegia, spinopontine atrophy, ataxia with etinopathy, and slow movement ataxia.
The sporadic type is very difficult to diagnose, and doctors will often struggle to rule out any hereditary possibilities before making a definitive diagnosis. Some of the many terms used to describe sporadic ataxia are spastic ataxia, Menzel’s ataxia, Marie’s ataxia, Holmes’ ataxia, sporadic atrophy and most commonly sporadic OPCA, or sporadic olivopontocerebellar atrophy.
Diagnosis is usually based on observation of neurological symptoms and, where applicable, existence of other affected family members. Common symptoms that can be caused by this condition include choking (dysphagia), incoordination of the extremities, slurred speech (dysarthria), and stiffness of movement. Most doctors will first try to rule out other causes of these symptoms, such as a recent stroke or multiple sclerosis, before making a definitive diagnosis.
After an initial diagnosis, a patient should immediately see a neurology specialist for a second diagnosis, after all alternative neurological causes have been ruled out. Ataxia is currently incurable, and therefore the task facing most people diagnosed with it is to learn to adjust their lives to the response. Finding qualified live-in caregivers is an important first step, as is pursuing physical and speech therapy and finding a supportive community to learn to live with the new disease.
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