Rehabilitative Therapien bei Morbus Huntington

Zusammenfassung

Beim Morbus Huntington (Huntington`s disease, HD) handelt es sich um eine chronische neurodegenerative Erkrankung, für die bisher keine krankheitsmodifizierende Therapie zugelassen ist. HD-Patienten sind früh von motorischen und kognitiven Störungen betroffen, so dass sowohl Einzeltherapien (Physiotherapie, Logopädie, Ergotherapie) als auch multidisziplinäre neurorehabilitative Angebote erforderlich sind. Die vorliegende Übersicht trägt die vorhandene Evidenz für solche Interventionen zusammen. Tierexperimentell gibt es Hinweise darauf, dass ein motorisches Training, entweder isoliert oder als Bestandteil eines Enriched-Environment-Settings, einen günstigen Einfluss auf Krankheitsmanifestation und -progression haben kann. Für die Wirksamkeit physiotherapeutischer Behandlungen, v. a. im Rahmen eines nach Anleitung in der Häuslichkeit durchzuführenden Trainingsprogramms, liegen immerhin vier randomisierte kontrollierte Studien (RCT) vor. Vor allem stationäre multidisziplinäre neurorehabilitative Behandlungen erbrachten Hinweise auf eine günstige Beeinflussung der Selbständigkeit (Aktivitäten des täglichen Lebens, ATL). Eine nicht-kontrollierte Studie zeigte darüber hinaus eine Reduktion von Parametern des oxidativen Stresses und der Neurodegeneration, eine weitere Untersuchung belegte sogar eine in der Magnetresonanztomografie nachweisbare Volumenzunahme des Nucleus caudatus und des dorsolateralen präfrontalen Kortex durch eine multidisziplinäre Rehabilitation. Unter den Studien zu neurorehabilitativen (multidisziplinären) Therapiekonzepten findet sich leider nur ein RCT, so dass weitere kontrollierte Studien zu diesem Thema notwendig sind.

Abstract

Huntington’s disease (HD) is a chronic neurodegenerative disease for which as yet no disease-modifying therapy is available. Even at the early stage of the disease, HD patients suffer from motor and cognitive impairments. They are in need of physical, occupational and speech therapy or (inpatient) multidisciplinary rehabilitation. This paper reviews the available evidence for the usefulness of these therapeutic interventions. Studies using HD animal models have shown that motor training per se or as part of an enriched environment setting may have a positive impact on disease onset and progression. There are four clinical randomized controlled trials (RCT) showing beneficial effects of physical therapy (standardized home-based training program). In particular, inpatient neurological rehabilitation may have positive effects on activities of daily living (ADL) in HD patients. A non-controlled trial on multidisciplinary rehabilitation showed a reduction of oxidative stress and associated neurodegeneration, with another study even demonstrating an increase in the volume of the right caudate and the dorsolateral prefrontal cortex. Among the studies focusing on multidisciplinary rehabilitation, there is only one RCT. Further controlled studies are needed.

Schlüsselwörter

Huntington - Rehabilitation - Physiotherapie - Ergotherapie - Logopädie - ICF

Key words

Huntington’s disease - rehabilitation - physical therapy - occupational therapy - speech therapy - ICF

• Literatur

• 1 The Huntington’s Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington’s disease chromosomes. Cell 1993; 72: 971-983
• 2 Rollnik JD. Morbus Huntington – eine aktuelle Übersicht. Nervenarzt; 2015.
• 3 Gasser T. Chorea Huntington und Chorea Sydenham. In: Brandt T, Dichgans J, Diener HC, Hrsg. Therapie und Verlauf neurologischer Erkrankungen. Stuttgart: Kohlhammer; 1998: 915-921
• 4 Lücking CH. Amtage F, Hummel S et al. Huntington-Erkrankung. In: Hufschmidt A, Lücking CH, Rauer S, Hrsg. Neurologie compact. Stuttgart: Thieme; 2013: 360-364
• 5 Weindl A, Conrad B. Chorea und choreatische Bewegungsstörungen. In: Conrad B, Ceballos-Baumann AO, Hrsg Bewegungsstörungen in der Neurologie. Stuttgart: Thieme; 1996: 155-180
• 6 Chandra A, Johri A, Beal MF. Prospects for neuroprotective therapies in prodromal Huntington’s disease. Mov Disord 2014; 29: 285-293
• 7 Laccone F, Engel U, Holinski-Feder E et al. DNA analysis of Huntington’s disease: five years of experience in Germany, Austria, and Switzerland. Neurology 1999; 53: 801-806
• 8 Armstrong MJ, Miyasaki JM. Evidence-based guideline: pharmacologic treatment of chorea in Huntington disease: report of the guideline development subcommittee of the American Academy of Neurology. Neurology 2012; 79: 597-603
• 9 Deutsche Gesellschaft für Neurologie (DGN). Leitlinie Chorea. AWMF-Leitlinie Nr. 030/028 2011, abrufbar unter www.awmf.org
• 10 Paulsen JS, Wang C, Duff K et al. Challenges assessing clinical endpoints in early Huntington disease. Mov Disord 2010; 25: 2595-2603
• 11 Beglinger LJ, O´Rourke JJ, Wang C et al. Earliest functional declines in Huntington disease. Psychiatry Res 2010; 178: 414-418
• 12 Agency for Health Care Policy and Research, Department of Health and Human Services. Acute pain management: operative or medical procedures and trauma. Clinical practice guideline no. 1. Rockville: AHCPR Publication; 1992: 100-107
• 13 van Dellen A, Cordery PM, Spires TL et al. Wheel running from a juvenile age delays onset of specific motor deficits but does not alter protein aggregate density in a mouse model of Huntington’s disease. BMC Neurosci 2008; 9: 34
• 14 van Dellen A, Blakemore C, Deacon R et al. Delaying the onset of Huntington’s in mice. Nature 2000; 404: 721-722
• 15 Skillings EA, Wood NI, Morton AJ. Beneficial effects of environmental enrichment and food entrainment in the R6/2 mouse model of Huntington’s disease. Brain Behav 2014; 4: 675-686
• 16 Wood NI, Glynn D, Morton AJ. “Brain training” improves cognitive performance and survival in a transgenic mouse model of Huntington’s disease. Neurobiol Dis 2011; 42: 427-437
• 17 Harrison DJ, Busse M, Openshaw R et al. Exercise attenuates neuropathology and has greater benefit on cognitive than motor deficits in the R6/1 Huntington’s disease mouse model. Exp Neurol 2013; 248: 457-469
• 18 Cepeda C, Cummings DM, Hickey MA et al Rescuing the Corticostriatal Synaptic Disconnection in the R6/2 Mouse Model of Huntington’s Disease: Exercise, Adenosine Receptors and Ampakines. PLoS Curr 2010; RRN1182 2
• 19 Potter MC, Yuan C, Ottenritter C et al. Exercise is not beneficial and may accelerate symptom onset in a mouse model of Huntington’s disease. PLoS Curr 2010; RRN1201 2
• 20 Li L, Tang BL. Environmental enrichment and neurodegenerative diseases. Biochem Biophys Res Commun 2005; 334: 293-297
• 21 Wild EJ, Tabrizi SJ. Targets for future clinical trials in Huntington’s disease: what’s in the pipeline?. Mov Disord 2014; 29: 1434-1445
• 22 Rollnik JD. Das Hessisch Oldendorfer ICF-Assessment (HOIA) – ein Vorschlag zur Befundung, Zielfindung und Dokumentation der Zielerreichung in der neurologisch-neurochirurgischen Rehabilitation. Akt Neurol 2014; 41: 328-334
• 23 Rollnik JD, Janosch U. Verweildauerentwicklung in der neurologischen Frührehabilitation. Dtsch Arztebl Int 2010; 107: 286-292
• 24 Leng TR, Woodward MJ, Stokes MJ et al. Effects of multisensory stimulation in people with Huntington’s disease: a randomized controlled pilot study. Clin Rehabil 2003; 17: 30-41
• 25 Rollnik JD, Altenmüller E. Music in disorders of consciousness. Front Neurosci 2014; 8: 190
• 26 Trembath MK, Horton ZA, Tippett L et al. A retrospective study of the impact of lifestyle on age at onset of Huntington disease. Mov Disord 2010; 25: 1444-1450
• 27 Bilney B, Morris ME, Perry A. Effectiveness of physiotherapy, occupational therapy, and speech pathology for people with Huntington’s disease: a systematic review. Neurorehabil Neural Repair 2003; 17: 12-24
• 28 Adema S, Stor T. Falls in institutionalized patients with Huntington’s disease: large numbers, minor consequences. J Neurol Neurosurg Psychiatry 2010; 81 (Suppl. 01) J03
• 29 Williams S, Heron L, France K et al. Huntington’s Disease: Characteristics of Fallers. Physiother Res Int 2014; [Epub ahead of print]
• 30 Busse ME, Khalil H, Quinn L et al. Physical therapy intervention for people with Huntington disease. Phys Ther 2008; 88: 820-831
• 31 Peacock IW. A physical therapy program for Huntington’s disease patients. Clinic Manag Phys Ther 1987; 7: 22-23 , 34
• 32 Kloos AD, Fritz NE, Kostyk SK et al. Video game play (Dance Dance Revolution) as a potential exercise therapy in Huntington’s disease: a controlled clinical trial. Clin Rehabil 2013; 27: 972-982
• 33 Khalil H, Quinn L, van Deursen R et al. What effect does a structured home-based exercise programme have on people with Huntington’s disease? A randomized, controlled pilot study. Clin Rehabil 2013; 27: 646-658
• 34 Reyes A, Cruickshank T, Nosaka K et al. Respiratory muscle training on pulmonary and swallowing function in patients with huntington’s disease: a pilot randomized controlled trial. Clin Rehabil 2014;
• 35 Quinn L, Debono K, Dawes H et al. Task-specific training in Huntington disease: a randomized controlled feasibility trial. Phys Ther 2014; 94: 1555-1568
• 36 Busse M, Quinn L, Dawes H et al. Supporting physical activity engagement in people with Huntington’s disease (ENGAGE-HD): study protocol for a randomized controlled feasibility trial. Trials 2014; 15: 487
• 37 Binswanger C. Physical therapy in Huntington disease. Arch Phys Med Rehabil 1980; 61: 148
• 38 Lavers A. An account of a weekly activity group with Huntington’s chorea patients on a long stay ward. Occup Ther 1981; 44: 387-392
• 39 Sheaff F. Hydrotherapy in Huntington’s disease. Nurs Times 1990; 86: 46-49
• 40 Quinn L, Rao A. Physical therapy for people with Huntington disease: current perspectives and case report. Neurol Rep 2002; 26: 145-153
• 41 Bohlen S, Ekwall C, Hellström K et al. Physical therapy in Huntington’s disease--toward objective assessments?. Eur J Neurol 2013; 20: 389-393
• 42 Metzler-Baddeley C, Cantera J, Coulthard E et al. Improved Executive Function and Callosal White Matter Microstructure after Rhythm Exercise in Huntington’s Disease. J Huntingtons Dis 2014; 3: 273-283
• 43 Dawes H, Collett J, Debono K et al. Exercise testing and training in people with Huntington’s disease. Clin Rehabil 2015; 29: 196-206
• 44 Kloos AD, Kegelmeyer DA, White SE et al. The impact of different types of assistive devices on gait measures and safety in Huntington’s disease. PLoS One 2012; 7: e30903
• 45 Churchyard AJ, Morris ME, Georgiou N et al. Gait dysfunction in Huntington’s disease: Parkinsonism and a disorder of timing. Implications for movement rehabilitation. In: Ruzicka E, Hallett M, Jankovic J, Hrsg Gait disorders. Advances in Neurology. Vol. 87. Philadelphia: Lippincott Williams & Wilkins; 2001: 375-385
• 46 Delval A, Krystkowiak P, Delliaux M et al. Effect of external cueing on gait in Huntington’s disease. Mov Disord 2008; 23: 1446-1452
• 47 European Huntington’s Disease Network (EHDN). Physiotherapy guidance document. Ulm: EHDN-Publikation; 2009. abrufbar unter https://www.huntingtonswa.org.au/resources/physiotherapy-guidance-doc-2009.pdf
• 48 Quinn L, Busse M. Physiotherapy clinical guidelines for Huntington’s disease. Neurodegen Dis Manage 2012; 2: 21-31
• 49 Hamilton A, Ferm U, Heemskerk AW et al. Management of speech, language and communication difficulties in Huntington’s disease. Neurodegen Dis Manage 2012; 2: 67-77
• 50 Kagel MC, Leopold NA. Dysphagia in Huntington’s disease: a 16-year retrospective. Dysphagia 1992; 7: 106-114
• 51 Heemskerk AW, Roos RA. Dysphagia in Huntington’s disease: a review. Dysphagia 2010; 26: 62-66
• 52 Bullerdiek M. Dysphagiemanagement. In: Rollnik JD, Hrsg Die neurologisch-neurochirurgische Frührehabilitation. 1. Aufl. Heidelberg: Springer; 2013: 117-128
• 53 Geeganage C, Beavan J, Ellender S et al. Interventions for dysphagia and nutritional support in acute and subacute stroke. Cochrane Database Syst Rev 2012; CD000323 10
• 54 Steultjens EM, Dekker J, Bouter LM et al. Evidence of the efficacy of occupational therapy in different conditions: an overview of systematic reviews. Clin Rehabil 2005; 19: 247-254
• 55 Mason J, Andrews K, Wilson E. Late stage Huntington’s disease: effect if treating disabilities. Br J Occup Ther 1991; 54: 4-8
• 56 Di Scipio WJ, Hannesson ME. Neuromuscular facilitation in the treatment of Huntington’s chorea. Behav Neuropsychiatry 1971; 2: 13-14
• 57 Blacker D, Broadhurst L, Teixeira L. The role of occupational therapy in leisure adaptation with complex neurological disability: a discussion using two case study examples. Neurorehabilitation 2008; 23: 313-319
• 58 Fenech A, Baker M. Casual leisure and the sensory diet: a concept for improving the quality of life in neuropalliative conditions. Neurorehabilitation 2008; 23: 369-376
• 59 Cook C, Page K, Wagstaff A et al. Development of guidelines for occupational therapy in Huntington’s disease. Neurodegen Dis Manage 2012; 2: 79-87
• 60 Klimek ML, Rohs G, Young L et al. Multidisciplinary approach to management of a hereditary neurodegenerative disorder: Huntington disease. Axone 1997; 19: 34-38
• 61 Veenhuizen RB, Kootstra B, Vink W et al. Coordinated multidisciplinary care for ambulatory Huntington’s disease patients. Evaluation of 18 months of implementation. Orphanet J Rare Dis 2011; 6: 77
• 62 Zinzi P, Salmaso D, De Grandis R et al. Effects of an intensive rehabilitation programme on patients with Huntington’s disease: a pilot study. Clin Rehabil 2007; 21: 603-613
• 63 Thompson JA, Cruickshank TM, Penailillo LE et al. The effects of multidisciplinary rehabilitation in patients with early-to-middle-stage Huntington’s disease: a pilot study. Eur J Neurol 2013; 20: 1325-1329
• 64 Piira A, van Walsem MR, Mikalsen G et al. Effects of a One Year Intensive Multidisciplinary Rehabilitation Program for Patients with Huntington’s Disease: a Prospective Intervention Study. PLoS Curr 2013; 5: ecurrents.hd.9504af71e0d1f87830c25c394be47027
• 65 Ciancarelli I, Tozzi Ciancarelli MG, Carolei A. Effectiveness of intensive neurorehabilitation in patients with Huntington’s disease. Eur J Phys Rehabil Med 2013; 49: 189-195
• 66 Ciancarelli I, De Amicis D, Di Massimo C et al. Influence of intensive multifunctional neurorehabilitation on neuronal oxidative damage in patients with Huntington’s disease. Funct Neurol 2014; 1-6 [Epub ahead of print]
• 67 Cruickshank TM, Thompson JA, Domínguez DJF et al. The effect of multidisciplinary rehabilitation on brain structure and cognition in Huntington’s disease: an exploratory study. Brain Behav 2015; e00312 [Epub ahead of print]
• 68 Schuntermann MF. Einführung in die ICF. 3. Aufl. Heildelberg: ecomed; 2009
• 69 Huntington Study Group. Unified Huntington’s Disease Rating Scale: reliability and consistency. Mov Disord 1996; 11: 136-142