What is ataxia? Definition of nervous system disease
Difficulty balancing or an inability to do so can be caused by any number of factors. Head injuries, migraines, alcohol use, ear infections and medications can all affect your musculoskeletal system and thereby impede your ability to balance. Aging can play a major role as well. Even deficiencies in nutrients such as iron and vitamin B12 can make you feel less stable on your feet.
Several medical conditions – including diabetes, arthritis, Parkinson’s disease, multiple sclerosis, neuropathy and thyroid issues – can lead to balancing problems as well. In such cases, an inability to balance is a symptom known as ataxia. But ataxia can also be its own condition or disease.
What is ataxia?
As a stand-alone condition, “ataxia is a degenerative disease of the nervous system,” explains Andrew Rosen, chief executive officer of the National Ataxia Foundation. There are many types, including cerebellar ataxia, sensory ataxia, vestibular ataxia, Friedreich’s ataxia and more general forms of hereditary ataxias.
The most common symptoms of the disease “are balance and walking difficulties, clumsiness, vision changes, speech difficulties, swallowing difficulties and sometimes having difficulty controlling emotions,” explains Dr. Liana Rosenthal, a neurologist at Johns Hopkins University School of Medicine. “These symptoms can impact all aspects of someone’s life, making it difficult to walk, work, communicate, type, text and read.”
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In a broader sense, ataxia is also the term used to describe “any difficulty with balance and fine coordination,” says Dr. Susan Perlman, a clinical professor of neurology and the director of the Ataxia Center and HD Center of Excellence in Los Angeles.
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What causes ataxia? Friedreich’s ataxia?
The reason such a wide variety of conditions, medications and injuries can cause related stressors, Perlman explains, is because they can all impact the cerebellum – the part of brain in the back of the skull that controls balance and coordination. Because of this, ataxia can be caused by damage to or issues within this brain structure; “but poor sensation in the feet, inner-ear problems or vision issues can lead to similar problems with balance,” says Perlman. “Muscle weakness or joint issues affecting the legs can also cause balancing issues.”
Rosenthal says that long-term alcohol use is one of the more preventable causes of ataxia, and having a stroke can lead to ataxia as well. “Often when we refer to cerebellar ataxia,” she adds, “we are referring to a collection of diseases that slowly get worse over time.” This form of ataxia “can have many causes including cancer, autoimmune diseases, degenerative brain conditions and a large number of genetic diseases.”
Hereditary ataxias, such as Friedreich’s ataxia, are genetic, meaning they are caused by “a defect in a certain gene that is present from the start of a person’s life, inherited from your parents,” says Rosen.
Other times doctors don’t know what’s behind a patient’s loss of balance or coordination – a condition known as idiopathic ataxia. “Still, scientific research is continually finding new ataxia gene mutations and new environmental stressors that will ultimately answer the question of causation for everyone who has ataxia,” says Perlman.
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How is ataxia treated?
When ataxia is a symptom of an injury, medication or reversible medical condition, it can be improved or reversed by stopping the medication, treating the condition or healing the injury. In other words, when such factors are dealt with, an individual’s ataxia-related symptoms will usually go away as well.
But when dealing with ataxia as its own disease, “the goal for treatment is to improve the quality of life of the patient and will require an individualized approach,” says Rosen. In such cases, he says, ataxia can’t usually be reversed, “so it is important to work closely with a neurologist to develop a plan to address symptoms.” Some of the treatments he points to that can help with that include speech and language therapy, occupational therapy and physical therapy.
Rosenthal says there are also some exciting medical advancements in treating specific types of ataxias including a newly approved medication for individuals with Friedreich’s ataxia. She says that Friedreich’s ataxia patients are fortunate to be able to now have access to this medication, “but hopefully there will soon be other medications that will slow the progression of other types of the disease.”
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