Huntington’s disease (also known as Huntington’s chorea) is a rare, inherited disease that causes the progressive breakdown (degeneration) of nerve cells in the brain. Huntington’s disease has a broad impact on a person’s functional abilities and usually results in movement, thinking (cognitive) and psychiatric disorders.
The first thorough description of the disease was by George Huntington in 1872. Examining the combined medical history of several generations of a family exhibiting similar symptoms, he realized their conditions must be linked; he presented his detailed and accurate definition of the disease as his first paper.
Symptoms:
Huntington’s disease usually causes movement, cognitive and psychiatric disorders with a wide spectrum of signs and symptoms
- Involuntary jerking or writhing movements (chorea)
- Muscle problems, such as rigidity or muscle contracture (dystonia)
- Slow or abnormal eye movements
- Impaired gait, posture and balance
- Difficulty with speech or swallow
- Difficulty organizing, prioritizing or focusing on tasks
- Lack of flexibility or the tendency to get stuck on a thought, behavior or action (perseveration).
- Lack of impulse control that can result in outbursts, acting without thinking and sexual promiscuity
- Lack of awareness of one’s own behaviors and abilities
- Difficulty in learning new information
- Feelings of irritability, sadness or apathy.
- Social withdrawal.
- Fatigue and loss of energy.
- Frequent thoughts of death, dying or suicide.
Causes:
Huntington’s disease is caused by an inherited defect in a single gene. Huntington’s disease is an autosomal dominant disorder, which means that a person needs only one copy of the defective gene to develop the disorder.
Complications:
After Huntington’s disease starts, a person’s functional abilities gradually worsen over time. The rate of disease progression and duration varies. The time from disease emergence to death is often about 10 to 30 years.
Diagnosis:
A preliminary diagnosis of Huntington’s disease is based primarily on your answers to questions, a general physical exam, a review of your family medical history, and neurological and psychiatric examinations.
- Motor symptoms, such as reflexes, muscle strength and balance
- Sensory symptoms, including sense of touch, vision and hearing
- Psychiatric symptoms, such as mood and mental status
- Brain imaging and function
- Genetic counseling and testing
- Predictive genetic test
Treatment:
- Medications for movement disorders
- Medications for psychiatric disorders
- Psychotherapy
- Speech therapy
- Occupational therapy
Physical therapy Treatment:
Physiotherapy has the potential to improve Huntington’s patients’ quality of life by improving their movement. The American Physical Therapy Association (APTA) has produced a fact sheet about how Physical therapy can help Huntington’s patients. A two year study dealing with a comprehensive approach to treatment concluded that Physiotherapy was beneficial. A Physical Therapist can teach you appropriate and safe exercises that enhance strength, flexibility, balance and coordination. These exercises can help maintain mobility as long as possible and may reduce the risk of falls.
Instruction on appropriate posture and the use of supports to improve posture may help lessen the severity of some movement problems.
When the use of a walker or wheelchair is required, the Physical therapist can provide instruction on appropriate use of the device and posture. Also, exercise regimens can be adapted to suit the new level of mobility.
N.B: The Huntington’s Disease Society of America is a US non-profit organization dedicated to improving the lives of person’s with Huntington’s Disease (HD)
