caa a22 4500 445299118 CHVBK 20180317142551.0 cr unu---uuuuu 170323e20100701xx s 000 0 eng 10.1007/s11940-010-0075-8 doi (NATIONALLICENCE)springer-10.1007/s11940-010-0075-8 Therapeutic Interventions in the Primary Hereditary Ataxias [Elektronische Daten] [Gonzalo Revuelta, George Wilmot] Opinion statement: 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. Springer Science+Business Media, LLC, 2010 Revuelta Gonzalo Department of Neurology, Emory University School of Medicine, Woodruff Memorial Building, Suite 6000, 101 Woodruff Circle, 30322, Atlanta, GA, USA aut Wilmot George Department of Neurology, Emory University School of Medicine, Woodruff Memorial Building, Suite 6000, 101 Woodruff Circle, 30322, Atlanta, GA, USA aut Current Treatment Options in Neurology Current Science Inc. 12/4(2010-07-01), 257-273 1092-8480 12:4<257 2010 12 11940 https://doi.org/10.1007/s11940-010-0075-8 text/html Onlinezugriff via DOI 1 review-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s11940-010-0075-8 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Revuelta Gonzalo Department of Neurology, Emory University School of Medicine, Woodruff Memorial Building, Suite 6000, 101 Woodruff Circle, 30322, Atlanta, GA, USA aut NATIONALLICENCE 700 1- Wilmot George Department of Neurology, Emory University School of Medicine, Woodruff Memorial Building, Suite 6000, 101 Woodruff Circle, 30322, Atlanta, GA, USA aut NATIONALLICENCE 773 0- Current Treatment Options in Neurology Current Science Inc 12/4(2010-07-01), 257-273 1092-8480 12:4<257 2010 12 11940 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer