Overview of Huntington’s disease

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Huntington’s disease is a brain disease that is passed down in families from generation to generation. It is caused by a mistake in the DNA instructions that build our bodies and keep them running. DNA is made up of thousands of genes, and people with HD have a small error in one gene, called huntingtin. HD causes deterioration in a person’s physical, mental, and emotional abilities, usually during their prime working years, and currently has no cure. Most people start developing symptoms during adulthood, between the ages of 30 to 50, but HD can also occur in children and young adults. HD is known as a family disease because every child of a parent with HD has a 50/50 chance of inheriting the faulty gene.

The symptoms of HD can vary a lot from person to person, but they usually include:
Personality changes, mood swings & depression

Forgetfulness & impaired judgment

Unsteady gait & involuntary movements (chorea)

Slurred speech, difficulty in swallowing & significant weight loss

Stages:
In early stage HD, individuals are largely functional and may continue to work, drive, handle money, and live independently. Symptoms may include minor involuntary movements, subtle loss of coordination, difficulty thinking through complex problems, and perhaps some depression, irritability, or disinhibition.

In middle stage HD, lose the ability to work or drive and may no longer be able to manage their own finances or perform their own household chores, but will be able to eat, dress, and attend to personal hygiene with assistance. Chorea may be prominent, and people with HD have increasing difficulty with voluntary motor tasks. There may be problems with swallowing, balance, falls, and weight loss. Problem solving becomes more difficult because individuals cannot sequence, organize, or prioritize information.

In late stage HD, require assistance in all activities of daily living. Although they are often nonverbal and bedridden in the end stages, it is important to note that people with HD seem to retain some comprehension. Chorea may be severe, but more often it is replaced by rigidity, dystonia, and bradykinesia. Psychiatric symptoms may occur at any point in the course of the disease, but are harder to recognize and treat late in the disease because of communication difficulties.

Treatment:
Currently no cure or treatment which can halt, slow or reverse the progression of the disease. However, there are many treatments and interventions that can help to manage HD symptoms. A neurologist, psychiatrist, or nurse with expertise in HD may prescribe medications to ease anxiety and depression, help with troublesome behaviors, and calm uncontrolled movements. A psychologist or social worker can provide individual or group counseling. Physical and occupational therapists can work with patients and families to develop strength, move safely, and adjust the home environment and activities as needed. Speech language pathologists and nutritionists can help with communication, eating and swallowing safely, and combating weight loss.

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Regards
Sarah V
Editorial Team
Journal of Clinical & Experimental Neuroimmunology