Huntington’s disease (HD) is a progressive brain condition caused by a defective gene. In this condition parts of the brain stop working correctly over time. This disorder causes brain cells (neurons) to die in various areas of the brain including those that help control voluntary movement. This disease can lead to emotional disturbance, loss of intellectual abilities, and uncontrolled movement. This condition is transferred in an autosomal dominant pattern and passed down in families from generation to generation. This condition has also been given many other names; Huntington’s chorea, and Huntington’s chronic progressive hereditary chorea. In this article, you will also get to know the symptoms and treatment of the disease.
The HD-causing DNA mistake is identified in a gene called huntingtin. In 1993, this gene was found. The huntingtin gene is present in everyone, but only individuals who inherit the error, known as the HD mutation, will develop HD and risk passing it on to their offspring.
Etiology of Huntingtion’s disease
HD is a rare neurological condition with an estimated global frequency of 2.7 per 100,000 people. The incidence varies by more than tenfold between geographical places; this can be ascribed to variances in case-ascertainment approaches as well as diagnostic criteria.
Several studies have discovered three distinct kinds of risk factors for the disease’s start. As risk variables, CAG repeat lengths in the HTT gene, CAG instability, and genetic modifiers were discovered. CAG repeat lengths were discovered to be the most relevant risk factor among them. Genetic factors are crucial in the course of the illness. CAG length is also a key influence in illness development, particularly in cognitive, motor, and neurological problems.
Symptoms of Huntington’s Disease (HD)
Symptoms of HD usually develop between ages 30 and 50, but also can appear in early age as 2 to as late as 80 years.
The symptoms may vary from person to person, but the major common symptoms are:
- Involuntary jerking or writhing movements (chorea)
- Mood swings, and depression
- Forgetful and impaired judgment
- Slurred speech, difficulty in swallowing, and significant weight loss
- Lack of impulse control that can result in outbursts, acting without thinking, and sexual promiscuity
- Difficulty in learning new information
The majority of patients with HD have difficulties with their thoughts, conduct, and movements. Symptoms often deteriorate over 10 to 25 years and impair the capacity to reason, move, and communicate. A person with HD, or their friends and family, may notice difficulty with planning, remembering, and remaining on task early on.
Treatment and control
Recently we don’t have any cure for HD or any way to stop it from getting worse. but some support and control mechanisms can be very much helpful to reduce some problems. There are treatments to manage the symptoms:
- For Involuntary movements: Some experts feel that starting therapy with an atypical antipsychotic medication, such as olanzapine, is the best option. Others begin with tetrabenazine, a medicine newly authorized by the US Food and Drug Administration (FDA) for Huntington’s disease.
- Occupational therapy, and behavioral therapy, to help make everyday tasks easier
- Social and community support are critical components of HD treatment. Many of the HD person’s prior obligations are typically assumed by family, friends, loved ones, and companions, who assist with daily activities and care routines when they are unable to do them themselves.
Living with Huntington’s Diseases
Because of the debilitating nature of Huntington’s illness, you will require regular support and monitoring as the condition advances. People who exhibit signs of the condition generally die within 15 to 20 years.
If you have Huntington’s disease or are at risk for it, it is vital that you maintain your physical fitness as much as possible. People who exercise frequently and stay active outperform those who do not.
A number of studies are now being conducted to investigate potential therapeutics for Huntington’s disease. Discuss with your doctor whether any of these therapies would be beneficial to you or a loved one suffering from the disease.
- Ajitkumar A, De Jesus O. Huntington Disease. [Updated 2022 Jul 4]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan
- Chao TK, Hu J, Pringsheim T. Risk factors for the onset and progression of Huntington disease. Neurotoxicology. 2017 Jul;61:79-99
- Overview of Huntington’s disease