Fysioterapeuten 6-2018

FYSIOTERAPEUTEN 6/18 27 Title: Physiotherapy and hereditary ataxia Abstract n Introduction : Hereditary ataxia is a group of rare, progressive genetic disorders that affects the neurological system and, in particular, the cerebellum. It results in poor coordination of movement and gait. As there is no curative treatment for hereditary ataxia, physiotherapy is essential for maintaining function and quality of life. n Main part : Hereditary ataxia arises secondary to mutations/disease causing variants in a single gene that causes damage to the nervous system. Over 100 different genetic forms of hereditary ataxia have been described if all forms and syndromes are included. Research with new family cohorts continues to identify new forms every year. Patients who have been diagnosed with hereditary ataxia should be offered a comprehensive program of physiotherapy. Individualized assessments and therapy plans are needed because hereditary ataxia is a large and heterogeneous group of diseases. Such a physiotherapy plan aims to teach practical strategies to cope physically with activities of everyday life and includes the use of orthopedic and technical aids and adaptation of the environment. It also aims to maintain and improve function through a focus on balance, coordination, and strength using more specific exercises and training. It is important that the physiotherapist has in-depth knowledge about the diagnosis and collaborates effectively with doctors and other professional in order to provide the most beneficial care. n Conclusion : Physiotherapy is an important component for the management of the physical effects of Hereditary Ataxia. n Keywords : Hereditary ataxia, physiotherapy, exercise. of upper limb function in Friedreich ataxia . J Neurol. 2010;257(4):518-23. 17. Ilg W, Brotz D, Burkard S, Giese MA, Schols L, Synofzik M. Long-term effects of coordinative trai- ning in degenerative cerebellar disease . Mov Disord. 2010;25(13):2239-46. 18. Synofzik M, Ilg W. Motor training in degenerative spinocerebellar disease: ataxia-specific improvements by intensive physiotherapy and exergames . Biomed Res Int. 2014;2014:583507. 19. Ilg W, Bastian AJ, Boesch S, Burciu RG, Celnik P, Claassen J, et al. Consensus paper: management of degenerative cerebellar disorders . Cerebellum (London, England). 2014;13(2):248-68. 20. Fonteyn EM, Schmitz-Hubsch T, Verstappen CC, Baliko L, Bloem BR, Boesch S, et al. Falls in spinocerebellar ataxias: Results of the EuroSCA Fall Study . Cerebellum (London, England). 2010;9(2):232-9. 21. Fonteyn E.M.R.a cS-HTbVCCPcBLdBBRaBSe. Prospective Analysis of Falls in Dominant Ataxias . Eur Neuro.2013, Vol.69, No. 1 53–7. 22. Ilg W, Schatton C, Schicks J, Giese MA, Schols L, Synof- zik M. Video game-based coordinative training improves ataxia in children with degenerative ataxia . 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Gait adaptability training improves obstacle avoidance and dynamic stability in patients with cerebellar degeneration . Gait Posture. 2014;40(1):247-51. 28. Jeka JJ. Light touch contact as a balance aid . Phys Ther. 1997;77(5):476-87. 29. Bateni H, Heung E, Zettel J, McLlroy WE, Maki BE. Can use of walkers or canes impede lateral compensatory stepping movements? Gait Posture. 2004;20(1):74-83. 30. Crowdy KA, Hollands MA, Ferguson IT, Marple-Horvat DE. Evidence for interactive locomotor and oculomotor deficits in cerebellar patients during visually guided stepping . Exp Brain Res. 2000;135(4):437-54. 31. Crowdy KA, Kaur-Mann D, Cooper HL, Mansfield AG, Offord JL, Marple-Horvat DE. Rehearsal by eye movement improves visuomotor performance in cerebellar pati- ents . Exp Brain Res. 2002;146(2):244-7. 32. Katalinic OM, Harvey LA, Herbert RD, Moseley AM, Lannin NA, Schurr K. Stretch for the treatment and prevention of contractures . The Cochrane database of systematic reviews. 2010(9):Cd007455. Vi tar imot fagartikler, vitenskapelige artikler, fagkronikker, fagessays, bokanmeldelser, sammendrag av studier publisert internasjonalt samt prosjektsammendrag. Vitenskapelige artikler og fagartikler må være fagredaktør i hende senest 15. september . Fagkronikker, fagessays, kasusrapporter, doktorgradssammendrag og norske sammendrag fra pågående prosjekter og artikler publisert i internasjonale tidsskrift må sendes inn senest 1. november . Spørsmål og manuskript sendes fagredaktor@fysio.no eller js@fysio.no. Se vår forfatterveileder. Tema: Velferdsteknologi Fagutgivelsen 2018 blir nr. 9 (desember) og tema denne gangen er velferdsteknologi . Vi ser frem til å motta interessante artikkelmanuskript – og til en spennende fagutgivelse!