Huntington’s Disease

Huntington’s disease is a rare progressive brain disorder caused by a single defective gene on chromosome 4 — one of the 23 human chromosomes that carry a person’s entire genetic code. The disease causes changes in the central region of the brain, which affects one’s mood, thinking and movement.

This defective gene is a dominant gene which means that anyone who inherits it from a parent with Huntington’s will also eventually develop the disease. The disorder is named after George Huntington, the physician who first described it in the late 1800s.

The defective gene codes the blueprint for a protein called huntingtin. This protein’s normal function isn’t yet known. The gene is called huntingtin because scientists identified its defective form as the cause of Huntington’s disease. Defective huntingtin protein leads to brain changes that cause abnormal involuntary movements, a severe decline in thinking and reasoning skills, and irritability, depression and other mood changes.

Symptoms:

Symptoms of Huntington’s disease usually develop between ages 30 and 50, but they can appear as early as age 2 or as late as 80. The trademark sign of Huntington’s disease is uncontrolled movement of the arms, legs, head, face and upper body. Due to the area of the brain that Huntington’s disease affects it can also cause a decline in thinking and reasoning skills, including memory, concentration, judgment, and ability to plan and organize.

Huntington’s disease brain changes lead to alterations in mood, especially depression, anxiety, and uncharacteristic anger and irritability. Another common symptom is obsessive-compulsive behaviour, leading a person to repeat the same question or activity over and over.

Diagnosis:

The defective gene was discovered in 1993 by scientists. If it is suspected someone has symptoms or they have an immediate relative who has the disease it is recommended that you go for a genetic test which will help diagnose the problem. The test will confirm the defective gene is the result of one’s symptoms as well as can detect weather someone has the defective gene yet does not have symptoms yet.

Treatment:

There is currently no cure or no way to slow down or stop the degenerative brain changes that will occur as a result of Huntington’s disease. Treatment needs to focus on the management of symptoms to improve the individual’s quality of life.

It is advised that someone suffering with Huntington’s disease should undergo multi-disciplinary therapy. Your initial point of contact will be with your doctor who will prescribe medication that can lessen some symptoms of movement and psychiatric disorders. It is important to understand that your treating doctor will be with you throughout the course of the disease as they will have monitor and alter your drugs based on the progression of the disease.

Speech therapy is an important part of a person’s treatment plan that is suffering with Huntington’s disease. The disease can significantly impair control of muscles of the mouth and throat that are essential for speech, eating and swallowing. A speech therapist can help improve your ability to speak clearly or teach you to use communication devices. Speech therapists can also address difficulties with muscles used in eating and swallowing.

Role of a Biokineticist to assist with Huntington’s Disease:

A Biokineticist can teach you appropriate and safe exercises that will enhance strength, flexibility, balance and coordination. These exercises can help maintain mobility as long as possible and may reduce the risk of falls. Your Biokineticist will help guide you as to the correct posture you should be adopting and help you with the correct exercises to get you into this desired position.

When the use of a walker or wheelchair is required, the Biokineticist can provide instruction on appropriate use of the device and posture.

Each individual suffering with the disease is completely different. As a Biokineticist we will help make sure your program is perfectly adapted to suit your required needs and help improve your activities of daily living.

Related Posts