Huntington’s Disease: What It Is, Causes, Symptoms & Care

Huntington’s disease is an idiopathic, enervating, and lethal condition characterised by a progressive breakdown of nerve cells in the brain. The process gives way to a wide range of physical, cognitive, and psychiatric symptoms that are proportionately aggravated over time and dramatically influence the person’s everyday life. Understanding Huntington’s disease is highly beneficial for those affected, their families, and caregivers. Knowing about its causes, symptoms, and care alternatives can help improve the quality of life, as early intervention and comprehensive care make an enormous difference.

What Causes Huntington’s Disease

Huntington’s disease is a hereditary disorder caused by a change in the HTT gene that provides instructions for making a protein called Huntingtin. The gene has an abnormally expanded number of CAG trinucleotide repeats. Normally, this part of the gene is repeated between 10 and 35 times in a healthy person and 36 to over 120 times in a person with Huntington’s disease. The greater the number of repeats, the earlier the age of the onset and the more rapid the progression of the disease.

The aggregate of the mutated huntingtin protein becomes toxic to the brain cells, especially in regions innervating motor, cognitive, and psychiatric aggregates in the brain. Because the disease is transmitted by autosomal dominant inheritance, a child of an affected parent will have a 50% likelihood of developing the inherited condition. This implies that giving a disease from one generation to another is quite possible, and individuals with mutations in the gene will most likely contract the disease if they live long enough.

Symptoms of Huntington’s Disease

The symptoms of Huntington’s disease often vary from person to person, even within the same family. Usually, the disease begins between the ages of 30 and 50; later or earlier symptoms are considered atypical. The symptoms can be divided into groups related to motor, cognitive, or psychiatric impairments.

Motor Symptoms

• Chorea: The characteristic symptom is involuntary, jerky movements of the face, the limbs, and the trunk.
• Dystonia: muscle stiffness and abnormal posture.
• Bradykinesia: slowness of movement. Difficult to initiate and execute movements.
• Dysphagia and Dysarthria: impaired swallowing and articulation of speech, respectively, are often seen as the disease progresses.

Cognitive Symptoms:

• Memory loss: usually short-term memory deficit. Later, it may progress to frank dementia.
• Loss of executive function: difficulty in planning, organising, and multitasking.
• Impaired judgment: inability to judiciously make a decision and lack of insight to infer the consequences of the decision made

Psychiatric Symptoms:

• Depression: A relatively common early symptom, many times with added anxiety and irritability.
• Obsessive-Compulsive Behaviors: Abnormal repeating thoughts or actions that are hard to stop.
• Apathy and Social Withdrawal: Loss of motivation or disinterest in associating with people.
• Psychosis: Delusions or hallucinations are observed in some cases.

These symptoms progress at different rates in each individual but typically worsen over 10 to 25 years until the person eventually becomes severely disabled and dies, usually due to complications such as pneumonia or heart failure.

Stages of Huntington’s Disease

The signs of Huntington’s disease increase in intensity over time. They intensify during the course of the disease and show up in different areas of daily life. The progression can be divided into three stages: early, middle, and late.

Early Stage of Huntington’s Disease:

• Mild Motor Symptoms: Small, uncontrollable movements, awkward gait
• Cognitive Decline: Minor memory lapse, problems in arranging things
• Changes in Mood: Depression, irritability or even apathy

Awareness of mild-stage symptoms can facilitate the early diagnosis and stage for later care preparation and treatment

Moderate Stage of Huntington’s Disease:

• Progressive Motor Disturbances: Further decline in voluntary coordination, chorea becomes much more pronounced.
• Cognitive Deterioration: Severe memory loss and issues in decision-making.

Late Stage of Huntington’s Disease:

• Severe motor symptoms: Chorea may abate, but the opponent symptoms of rigidity and bradykinesia increase, and almost total voluntary movements are lost.
• Severe cognitive decline: With profound amnesia and inability to identify loved ones or severe difficulty in their communication.
• Psychiatric symptoms: depression may abate with increasing apathy, but it is replaced with more frequent psychosis and delusions.
  Identification of these symptoms is very crucial, as it will aid in managing the course of the disease and addressing an individual in the right way.

Management of Huntington’s Disease

Management of an individual with Huntington’s calls for a full multidisciplinary approach that considers medical, cognitive, and emotional aspects. The care focuses on the management of the symptoms, preservation of the best possible life quality, and provision of support to the individual and the family members.

Medical Treatment:

Medication: Although Huntington’s disease is incurable, medications can be included to take care of symptoms. For instance, tetrabenazine to manage chorea; Antidepressants and medications to treat psychosis can be used to manage psychiatric symptoms.

Regular Observation:

A neurologist and other health professionals can observe the patient through regular checks and adjustments in treatments as the disease develops.

Physical and Occupational Therapies:

• Physiotherapy: Regular exercises can be recommended for stretching and maintaining muscle flexibility and preventing stiffness Exercises can be in the form of stretching, strengthening, and balancing.
• Occupational Therapy: This helps to adapt the daily activities and the living atmosphere according to the decline in motor and cognitive abilities. It can include the use of assistive devices.

Speech and Swallowing Therapy:

• Speech Therapy: This helps with communicative deficits because of low motor capabilities and cognitive deficits.
• Swallowing Therapy: This helps to combat dysphagia. It directs regular attention toward safe eating and swallowing. It works to prevent choking and aspiration.
• Counselling and Therapy: These will help both the patient and their family cope with the psychological shock of the disease. Treatment may be prescribed for depression, anxiety, and changes in behaviour.
• Support Groups: Sharing experiences with other people going through similar difficulties allows for emotional support and the sharing of practical ideas.

Caregiving:

Later in the progression of the disease, in-home care services are often employed, with many families using live-in caregivers to provide around-the-clock assistance and support in activities of daily functioning.

Respite Care: Offers short-term breaks for family caregivers, helping them to recover from the demands of their daily routines and deal with burnout.

End-of-Life Care: Late-stage palliative care should be given with an emphasis on comfort and quality of life. It should address such symptoms as pain, breathing issues, and other symptoms.

Nutritional Support:

Diet: A proper diet including all five food groups is necessary. During later stages, when swallowing becomes really hard, it is important to monitor food textures and proper nutritional status.

Hydration: Proper hydration is also important, especially as swallowing becomes really laborious.

Choosing the right type of care depends on which stage the disease is in, what symptoms manifest, and personal preference. It is critical to engage in open conversations with health professionals to come up with a care plan that works for the patient with Huntington’s disease.

Huntington’s Disease: Navigating with Compassionate Care

Huntington’s disease is a very challenging progressive condition, as it affects not only the individual but also the family and caregivers. Management can be effective with the understanding of the causes, recognition of the symptoms, and awareness of care options. Early diagnosis, together with a comprehensive individualised care plan, is a crucial aspect for achieving a better quality of life in the context of individuals with Huntington’s disease, hence dignifying and ensuring comfort all the way.

At SweetTree, we deliver specialist care designed to meet the individual needs of persons with Huntington’s. With our caring and experienced staff, we guarantee quality support according to your needs and those of the clients taken care of. Do call our team today to talk about our services or get information about them in an informal talk.