Essential Information about the Nervous System Disorder ‘Ataxia’
Having trouble with balance or complete inability to do so can arise from various causes. Factors such as head injuries, migraines, alcohol consumption, ear infections, and certain medications can affect your musculoskeletal system and hinder your balance. Aging is also a significant contributor. Additionally, deficiencies in essential nutrients like iron and vitamin B12 can lead to instability while standing.
Multiple medical issues, including diabetes, arthritis, Parkinson’s disease, multiple sclerosis, neuropathy, and thyroid conditions can result in balance problems as well. In these scenarios, the inability to maintain balance is referred to as ataxia. However, ataxia can also manifest as an independent condition or disorder.
What Is Ataxia?
Ataxia, as an independent condition, is described as “a degenerative disease affecting the nervous system,” according to Andrew Rosen, CEO of the National Ataxia Foundation. There are various types, such as cerebellar ataxia, sensory ataxia, vestibular ataxia, Friedreich’s ataxia, and several hereditary forms.
The common symptoms of this condition include challenges with balance and walking, clumsiness, changes in vision, difficulties in speech and swallowing, and struggles with emotional control, as stated by Dr. Liana Rosenthal, a neurologist at Johns Hopkins University School of Medicine. “These symptoms can affect every aspect of an individual’s life, making it hard to walk, work, communicate, text, and read.”
More broadly, ataxia also refers to any challenges with balance and fine coordination, Dr. Susan Perlman, a clinical professor in neurology and director of the Ataxia Center, explains.
What Causes Ataxia? Particularly Friedreich’s Ataxia?
A myriad of conditions, medications, and injuries can lead to ataxia, as they all can affect the cerebellum — the brain area located at the back of the skull responsible for balance and coordination. These factors may cause damage to this brain structure; “however, poor foot sensation, inner-ear issues, or vision problems can also lead to balance difficulties,” explains Perlman. “Muscle weakness or joint pain in the legs can also contribute to balance problems.”
According to Rosenthal, long-standing alcohol use is one of the more avoidable causes of ataxia, and a stroke may also result in ataxia. “Often, when we talk about cerebellar ataxia,” she states, “we refer to a range of diseases that progressively worsen.” This type of ataxia can stem from various causes, including cancer, autoimmune diseases, degenerative brain disorders, and numerous genetic conditions.
Hereditary ataxias, like Friedreich’s ataxia, are genetic conditions caused by “a defect in a specific gene that is present from the beginning of life, passed down from parents,” Rosen explains.
In some instances, medical professionals may remain unaware of the cause behind a patient’s balance or coordination issues, a situation referred to as idiopathic ataxia. “Nevertheless, ongoing scientific research is continuously uncovering new ataxia gene mutations and environmental factors that will ultimately provide answers regarding causation for everyone affected by ataxia,” states Perlman.
How Is Ataxia Treated?
When ataxia arises as a symptom of an injury, medication, or a treatable medical condition, it may improve or even resolve by stopping the medication, addressing the condition, or healing the injury. That means that when these contributing factors are managed, a person’s ataxia-related symptoms typically improve as well.
Conversely, when ataxia occurs as its own disorder, “treatment focuses on enhancing the patient’s quality of life and necessitates an individualized approach,” Rosen advises. In such cases, ataxia usually cannot be reversed, making it essential to collaborate with a neurologist to formulate a plan to tackle symptoms. Some helpful treatments he highlights include speech and language therapy, occupational therapy, and physical therapy.
Rosenthal mentions that there are promising medical advancements in the treatment of specific types of ataxias, including a newly approved drug for individuals with Friedreich’s ataxia. She expresses optimism that Friedreich’s ataxia patients can now access this medication, and hopes that other medications will soon exist to slow the progression of different types of the condition.