The treatment of
hereditary ataxia is primarily supportive. With very few exceptions (eg,
ataxia associated with
vitamin E deficiency), there are no disease-modifying
therapies. Despite the lack of disease-modifying treatments, there can be great value in obtaining an accurate diagnosis of
hereditary ataxia subtype. Benefits include determining prognosis, facilitating family counseling, improving research access, and providing some psychological benefit in ending the often frustrating search for an accurate etiology.
Hereditary ataxias may have certain clinical features that respond very well to symptomatic medical
therapy.
Parkinsonism,
dystonia, spasticity, urinary urgency, sleep pathology,
fatigue, and depression are all common in many of the
ataxia subtypes and very often respond to pharmacologic intervention as in other diseases. Much of the clinical interaction between neurologist and
ataxia patient should focus on identifying and treating these symptoms. Treatment of the core clinical feature of these diseases-
ataxia-is predominantly rehabilitative. The value of good
physical therapy far exceeds any potential benefit from medications that a physician might prescribe to improve balance and coordination. Speech and swallowing are often affected. In more severe cases, aspiration risk can be very significant and life-threatening. Routine monitoring of swallowing by speech therapists, often including modified
barium swallowing tests, is indicated in most patients. Recently there have been very encouraging advances in clinical
ataxia research. Collaborative study groups throughout the world have developed and validated
ataxia rating scales and instrumented outcome measures and have begun to rigorously define the natural history of these diseases, thus laying the foundation for well-designed clinical trials. The promise of disease-modifying treatments is closer than ever.