Editing Huntington's disease (section)

==Management==
[[File:Report (IA report00comm 6).pdf|thumb|Illustration from a case report in 1977 of a person with Huntington's disease]]

Treatments are available to reduce the severity of some HD symptoms.<ref name="HDDRUGS">{{cite journal | vauthors = Frank S, Jankovic J | title = Advances in the pharmacological management of Huntington's disease | journal = Drugs | volume = 70 | issue = 5 | pages = 561–571 | date = March 2010 | pmid = 20329804 | doi = 10.2165/11534430-000000000-00000 | url = http://adisonline.com/drugs/Abstract/2010/70050/Advances_in_the_Pharmacological_Management_of.4.aspx | url-status = dead | s2cid = 42386743 | archive-url = https://web.archive.org/web/20111008155523/http://adisonline.com/drugs/Abstract/2010/70050/Advances_in_the_Pharmacological_Management_of.4.aspx | archive-date = 8 October 2011 }}</ref> For many of these treatments, evidence to confirm their effectiveness in treating symptoms of HD specifically are incomplete.<ref name="lancet07" /><ref name="pmid15076012">{{cite journal | vauthors = Bonelli RM, Wenning GK, Kapfhammer HP | title = Huntington's disease: present treatments and future therapeutic modalities | journal = International Clinical Psychopharmacology | volume = 19 | issue = 2 | pages = 51–62 | date = March 2004 | pmid = 15076012 | doi = 10.1097/00004850-200403000-00001 | s2cid = 1956458 }}</ref> As the disease progresses, the ability to care for oneself declines, and carefully managed [[multidisciplinary]] [[caregiving]] becomes increasingly necessary.<ref name="lancet07" /> Although relatively few studies of exercises and therapies have shown to be helpful to [[Rehabilitation (neuropsychology)|rehabilitate]] cognitive symptoms of HD,  some evidence shows the usefulness of [[physical therapy]], [[occupational therapy]], and [[speech therapy]].<ref name="lancet07" />

===Therapy===

Weight loss and problems in eating due to [[dysphagia]] and other muscle discoordination are common, making nutrition management increasingly important as the disease advances.<ref name="lancet07" /> [[Thickening agent]]s can be added to liquids, as thicker fluids are easier and safer to swallow.<ref name="lancet07" /> Reminding the affected person to eat slowly and to take smaller pieces of food into the mouth may also be of use to prevent choking.<ref name="lancet07" /> If eating becomes too hazardous or uncomfortable, the option of using a [[percutaneous endoscopic gastrostomy]] is available. This feeding tube, permanently attached through the [[abdomen]] into the [[stomach]], reduces the risk of [[pulmonary aspiration|aspirating]] food and provides better nutritional management.<ref name="pmid18390785">{{cite journal | vauthors = Panagiotakis PH, DiSario JA, Hilden K, Ogara M, Fang JC | title = DPEJ tube placement prevents aspiration pneumonia in high-risk patients | journal = Nutrition in Clinical Practice | volume = 23 | issue = 2 | pages = 172–175 | year = 2008 | pmid = 18390785 | doi = 10.1177/0884533608314537 }}</ref> Assessment and management by [[speech-language pathologist]]s with experience in Huntington's disease is recommended.<ref name="lancet07" />

People with Huntington's disease may see a [[physical therapist]] for noninvasive and nonmedication-based ways of managing the physical symptoms. Physical therapists may implement fall risk assessment and prevention, as well as strengthening, stretching, and cardiovascular exercises. [[Walking aids]] may be prescribed as appropriate. Physical therapists also prescribe breathing exercises and [[airway clearance technique]]s with the development of respiratory problems.<ref name=ehdnphysio /> Consensus guidelines on physiotherapy in Huntington's disease have been produced by the European HD Network.<ref name=ehdnphysio>{{cite web|url=http://www.euro-hd.net/html/network/groups/physio/physiotherapy-guidance-doc-2009.pdf|title=EHDN Physiotherapy Guidance Document|publisher=European HD Network Physiotherapy Working Group|access-date=2015-11-15|url-status=dead|archive-url=https://web.archive.org/web/20160304030647/http://www.euro-hd.net/html/network/groups/physio/physiotherapy-guidance-doc-2009.pdf|archive-date=4 March 2016}}</ref> Goals of early [[Rehabilitation medicine|rehabilitation]] interventions are prevention of loss of function. Participation in rehabilitation programs during the early to middle stage of the disease may be beneficial as it translates into long-term maintenance of motor and functional performance.  Rehabilitation during the late stage aims to compensate for motor and functional losses.<ref>{{cite journal|vauthors=Quin L, Busee M|title=Development of physiotherapy guidance and treatment-based classifications for people with Huntington's disease|journal=Neurodegenerative Disease Management|date=February 2012|volume=2|issue=1|pages=21–31|doi=10.2217/nmt.11.86|url=http://www.futuremedicine.com/doi/pdf/10.2217/nmt.11.67|doi-access=|access-date=10 May 2012|archive-date=9 August 2020|archive-url=https://web.archive.org/web/20200809000845/https://www.futuremedicine.com/doi/pdf/10.2217/nmt.11.67|url-status=live}}</ref> For long-term independent management, the therapist may develop home exercise programs for appropriate people.<ref>{{cite journal | vauthors = Khalil H, Quinn L, van Deursen R, Martin R, Rosser A, Busse M | title = Adherence to use of a home-based exercise DVD in people with Huntington disease: participants' perspectives | journal = Physical Therapy | volume = 92 | issue = 1 | pages = 69–82 | date = January 2012 | pmid = 21960468 | doi = 10.2522/ptj.20100438 | doi-access = free }}</ref>

Additionally, an increasing number of people with HD are turning to [[palliative care]], which aims to improve quality of life through the treatment of the symptoms and stress of serious illness, in addition to their other treatments.<ref>{{cite journal | vauthors = Travers E, Jones K, Nichol J | title = Palliative care provision in Huntington's disease | journal = International Journal of Palliative Nursing | volume = 13 | issue = 3 | pages = 125–130 | date = March 2007 | pmid = 17505405 | doi = 10.12968/ijpn.2007.13.3.23274 }}</ref>

===Medications===
[[File:Tetrabenazine structure.svg|thumb|right|alt=diagram showing 19 carbon, 27 hydrogen, 3 oxygen and 1 nitrogen atom bonded together| Chemical structure of [[tetrabenazine]], an approved compound for the management of [[chorea]] in HD]]
[[Tetrabenazine]] was approved in 2000 for treatment of chorea in Huntington's disease in the EU, and in 2008 in the US.<ref name=autogenerated1>{{cite web |url=https://www.fda.gov/bbs/topics/NEWS/2008/NEW01874.html |title=FDA Approves First Drug for Treatment of Chorea in Huntington's Disease |access-date=10 August 2008 |publisher=U.S. Food and Drug Administration |date=15 August 2008 |url-status=live |archive-url=https://web.archive.org/web/20080821020643/https://www.fda.gov/bbs/topics/NEWS/2008/NEW01874.html |archive-date=21 August 2008}}</ref> Although other drugs had been used "[[off label]]", tetrabenazine was the first approved treatment for Huntington's disease in the U.S. The compound has been known since the 1950s. In 2017, [[deutetrabenazine]], a heavier form of tetrabenazine medication for the treatment of chorea in HD, was approved by the FDA.<ref name="CDE2">{{cite web |author=Center for Drug Evaluation Research |date=17 July 2019 |title=In Pursuit of Tardive Dyskinesia: The Breakthrough Designation and Approval of Valbenazine |url=https://www.fda.gov/drugs/news-events-human-drugs/pursuit-tardive-dyskinesia-breakthrough-designation-and-approval-valbenazine |url-status=live |archive-url=https://web.archive.org/web/20201203175104/https://www.fda.gov/drugs/news-events-human-drugs/pursuit-tardive-dyskinesia-breakthrough-designation-and-approval-valbenazine |archive-date=3 December 2020 |access-date=15 November 2020 |website=FDA |language=en}}</ref> This is marketed as Austedo. [[Valbenazine|Valbenazine (Ingrezza)]] was also approved by the FDA for the treatment of Huntington's disease chorea in 2023.<ref>{{Cite web |title=Ingrezza (valbenazine) FDA Approval History |url=https://www.drugs.com/history/ingrezza.html |access-date=2025-04-25 |website=Drugs.com |language=en}}</ref> [[Tetrabenazine]], [[deutetrabenazine]], and [[valbenazine]] are all [[Vesicular monoamine transporter 2|vesicular monoamine transporter 2 (VMAT2)]] inhibitors, which work by depleting [[dopamine]] in the brain, lessening involuntary movements.<ref>{{Cite journal |last=Tarakad |first=Arjun |last2=Jimenez-Shahed |first2=Joohi |date=December 2018 |title=VMAT2 Inhibitors in Neuropsychiatric Disorders |url=https://pubmed.ncbi.nlm.nih.gov/30306450 |journal=CNS drugs |volume=32 |issue=12 |pages=1131–1144 |doi=10.1007/s40263-018-0580-y |issn=1179-1934 |pmid=30306450}}</ref> These are the only drugs that have been approved specifically for Huntington's disease (namely the chorea associated with it).

Other drugs that help to reduce chorea include [[antipsychotic]]s and [[benzodiazepine]]s.<ref name="genereviews"/> [[Hypokinesia]] and rigidity, especially in juvenile cases, can be treated with [[antiparkinsonian]] drugs, and [[myoclonic]] hyperkinesia can be treated with [[valproic acid]].<ref name="genereviews"/> Tentative evidence has found [[ethyl eicosapentaenoic acid]] to improve motor symptoms at one year.<ref>{{cite journal | vauthors = Morsy S, Khalil SM, Doheim MF, Kamel MG, El-Basiony DS, Ahmed Hassan HI, Eisa AA, Anh Ngoc CT, Dang NP, Hirayama K, Huy NT | title = Efficacy of ethyl-EPA as a treatment for Huntington disease: a systematic review and meta-analysis | journal = Acta Neuropsychiatrica | volume = 31 | issue = 4 | pages = 175–185 | date = August 2019 | pmid = 30890195 | doi = 10.1017/neu.2019.11 | hdl-access = free | hdl = 10069/39427| s2cid = 84183892 }}</ref> [[Amantadine]] has also been used to treat chorea, but there is limited evidence for its safety and efficacy.<ref name="Coppen2">{{cite journal |vauthors=Coppen EM, Roos RA |date=January 2017 |title=Current Pharmacological Approaches to Reduce Chorea in Huntington's Disease |journal=Drugs |volume=77 |issue=1 |pages=29–46 |doi=10.1007/s40265-016-0670-4 |pmc=5216093 |pmid=27988871}}</ref>

Psychiatric symptoms can be treated with medications similar to those used in the general population.<ref name="lancet07" /><ref name="pmid15076012"/> [[Selective serotonin reuptake inhibitor]]s and [[mirtazapine]] have been recommended for depression, while [[atypical antipsychotic]]s are recommended for [[psychosis]] and behavioral problems.<ref name="pmid15076012"/> Specialist neuropsychiatric input is recommended since people may require long-term treatment with multiple medications in combination.<ref name="lancet07" />

=== Plant-based medications ===
There has been a number of alternative therapies experimented in [[Ayurveda|ayurvedic]] medicine with plant-based products, although none have provided good evidence of efficacy. A recent study showed that the stromal processing peptidase (SPP), a synthetic enzyme found in plant [[chloroplast]]s, prevented the aggregation of proteins associated with Huntington's disease.<ref>{{cite journal | vauthors = Llamas E, Koyuncu S, Lee HJ, Wehrmann M, Gutierrez-Garcia R, Dunken N, Charura N, Torres-Montilla S, Schlimgen E, Mandel AM, Theile EB, Grossbach J, Wagle P, Lackmann JW, Schermer B, Benzing T, Beyer A, Pulido P, Rodriguez-Concepcion M, Zuccaro A, Vilchez D | title = In planta expression of human polyQ-expanded huntingtin fragment reveals mechanisms to prevent disease-related protein aggregation | journal = Nature Aging | volume = 3 | issue = 11 | pages = 1345–1357 | date = November 2023 | pmid = 37783816 | pmc = 10645592 | doi = 10.1038/s43587-023-00502-1 }}</ref> However, repeat studies and clinical validation are needed to confirm its true therapeutic potential.

===Education===

The families of individuals, and society at large, who have inherited or are at risk of inheriting HD have generations of experience of HD but may be unaware of recent breakthroughs in understanding the disease, and of the availability of genetic testing. Genetic counseling benefits these individuals by updating their knowledge, seeking to dispel any unfounded beliefs that they may have, and helping them consider their future options and plans. The Patient Education Program for Huntington's Disease has been created to help educate family members, caretakers, and those diagnosed with Huntington's disease.<ref name="PEP">{{cite journal |vauthors=A'Campo LE, Spliethoff-Kamminga NG, Roos RA |title=The Patient Education Program for Huntington's Disease (PEP-HD) |journal=J Huntingtons Dis |volume=1 |issue=1 |pages=47–56 |date=2012 |pmid=25063190 |doi=10.3233/JHD-2012-120002 |url=|doi-access=free }}</ref> Also covered is information concerning family planning choices, care management, and other considerations.<ref name="lancet07" /><ref name="OxfordMonographtesting">{{cite book | vauthors = Harper P|chapter=Genetic counselling and presymptomatic testing |veditors=Bates G, Harper P, Jones L | title=Huntington's Disease – Third Edition| publisher=Oxford University Press| location=Oxford| year=2002| isbn=978-0-19-851060-4|pages= 198–242}}</ref>