Huntington’s disease (HD) is a genetic disorder that causes gradual breakdown of nerve cells, especially in special cells called the basal ganglia situated in the brain. This disease affects the physical as well as mental capabilities of an individual over time. Generally, the signs and symptoms of Huntington’s disease start appearing at the age of 30–40 years, but the early 20s are a possibility too.
Huntington’s disease (HD) is a genetic disorder that causes gradual breakdown of nerve cells, especially in special cells called the basal ganglia situated in the brain.1 This disease affects the physical as well as mental capabilities of an individual over time. Generally, the signs and symptoms of Huntington’s disease start appearing at the age of 30–40 years, but the early 20s are a possibility too. In people with this condition, the Huntingtin protein depletes the most basic energy-giving molecule utilized by every cell in our body – adenosine triphosphate (ATP). This depletion of energy molecules produces the symptoms of Huntington’s disease.
Who Is Prone To Huntington’s?
Huntington’s disease affects both sexes and people of all races equally. It is an autosomal dominant disorder, that is, if both parents carry the gene responsible for the condition, the children are likely to inherit it. Every child of parents suffering from Huntington’s has a 50% chance of carrying the faulty gene. If the child does not inherit the disease gene, he or she will neither develop this condition nor pass it on to the next generation.2
Signs To Look Out For
Huntington’s disease is a neurodegenerative condition and a person with this disorder will face difficulties in motor functions, cognitive deterioration, and psychiatric symptoms.3
- Movement disorders: This includes both faulty voluntary actions and involuntary movements like jerking movements or trembling (chorea). Muscular problems such as rigidity, muscle contractures (dystonia), difficulty in swallowing, difficulty in communicating via speech, and trouble with gait and balancing are also common.
- Cognitive disorders: These include difficulty in organizing, planning, and focusing on tasks, tendency to get stuck on a thought, a behavior or action, action without thinking (impulsiveness), difficulty in learning new things, and lack of awareness of one’s behavior and abilities.4
- Psychiatric disorders: Depression is the most common psychiatric symptom of Huntington’s disease as a result of the damage dealt out to the brain. Depression manifests as irritability, sadness or apathy, insomnia, fatigue, and thoughts of death or suicide. Other psychiatric signs include obsessive-compulsive behavior, mania, overactivity, impulsive behavior, inflated self-esteem, and alternating episodes of depression and mania.5
Treatment for Huntington’s Disease
No treatment can cure the disease as the roots lie in the genes. What a doctor can do is take care of the physical symptoms and the mental challenges. Medicines too can be prescribed to take care of symptoms like chorea and the psychiatric illnesses.
- Psychotherapy: It can help the person with Huntington’s manage behavioral problems and facilitate effective communication among family members.
- Speech therapy: Huntington’s disease impairs the control over the muscles of the mouth and throat. A speech therapist can help the patient speak clearly in later stages of the disease. The therapist will use communication tools like alphabet boards, picture boards, and other electronic devices to coach the patient. Speech therapists can also address challenges with muscles used in eating or swallowing.
- Physical therapy: A physical therapist can teach safe exercises that improve strength, flexibility, balance, and coordination. These exercises can help the person retain mobility for as long as possible and reduce the risk of falls greatly. In the later stages, when a walker or wheelchair is required, the physical therapist can guide the patient on appropriate use and posture.6
- Occupational therapy: An occupational therapist can help with assistive devices that improve functional abilities – say, using handrails at home, or special utensils for eating and drinking.
- Supplements: Studies have found that a drug called creatine, which helps replace the lost ATP in the cells, can improve the condition of people with Huntington’s disease. In fact, it even slows down the progression of this debilitating disease.7 Vitamin E has shown promise as a potential dietary supplement to help slow down the progress of the condition in early stages. However, it hasn’t been found to be effective in more advanced stages.8
Alternative therapy such as Ayurveda can help alleviate symptoms and bring relief. A study by Chaudhary et al. found that herbs like brahmi, ginkgo biloba, ashwagandha, turmeric, gotu kola, and ginger have been found to have potential benefits in controlling symptoms of Huntington’s disease and slowing down its progression through their anti-inflammatory and anti-oxidant properties.9 Another case study showed how an Ayurvedic regime including medication and procedures like nasya, shirostalam, abhyanga, and basti improved the symptoms of chorea in a 47-year-old woman with Huntington’s.10 A study by Paul Tomlinson also confirmed improvements in chorea through the use of the homeopathic medicine Belladonna.11 Thus, a multidisciplinary approach involving various specialties and branches of medicine can be most beneficial for patients.12
References [ + ]
|1.||↑||Schroll H, Hamker FH. Basal Ganglia dysfunctions in movement disorders: What can be learned from computational simulations. Mov Disord. 2016 Jul 9. doi: 10.1002/mds.26719.|
|2.||↑||Sutovsky S, Smolek T, Alafuzoff I, et al. Atypical Huntington’s disease with the clinical presentation of behavioural variant of frontotemporal dementia. J Neural Transm (Vienna). 2016 Jun 10.|
|3.||↑||Rodrigues FB, Wild EJ. Psychogenic non-epileptic seizures in early Huntington’s disease. Pract Neurol. 2016 Jun 21. pii: practneurol-2016-001423.|
|4.||↑||Mörkl S, Müller NJ, et al. Problem solving, impulse control and planning in patients with early- and late-stage Huntington’s disease. Eur Arch Psychiatry Clin Neurosci. 2016 Jul 2.|
|5.||↑||Abbott SM, Videnovic A. Chronic sleep disturbance and neural injury: links to neurodegenerative disease. Nat Sci Sleep. 2016 Jan 25;8:55-61. eCollection 2016. Review.|
|6.||↑||Rollnik JD. Rehabilitation in Huntington’s Disease. Fortschr Neurol Psychiatr. 2015 Jun;83(6):334-43. Review. German.|
|7.||↑||Hersch SM, Gevorkian S, Marder K, et al. Creatine in Huntington disease is safe, tolerable, bioavailable in brain and reduces serum 8OH2’dG. Neurology. 2006 Jan 24;66(2):250-2.|
|8.||↑||Peyser CE, Folstein M, Chase GA, et al. Trial of d-alpha-tocopherol in Huntington’s disease. Am J Psychiatry 1995;152:1771-5.|
|9.||↑||Choudhary S, Kumar P, Malik J. Plants and phytochemicals for Huntington’s disease. Pharmacognosy Reviews. 2013;7(14):81-91.|
|10.||↑||Girish KJ, Amit Kumar, Devendra Kaushik, Diwakar P Joshi. Management of Huntington’s Disease through Ayurveda – A Case Study. Journal of Ayurveda and Holistic Medicine. Journal of Ayurveda and Holistic Medicine. Vol 3. No 3 (2015).|
|11.||↑||Paul J. Tomlinson. The treatment of Huntington’s chorea with belladonna alkaloids. Psychiatric Quarterly. September 1947, Volume 21, Issue 3, pp 447-452.|
|12.||↑||Veenhuizen RB, Kootstra B, et al. Coordinated multidisciplinary care for ambulatory Huntington’s disease patients. Evaluation of 18 months of implementation. Orphanet J Rare Dis. 2011 Nov 18;6:77|