Huntington disease (HD) is an incurable, adult-onset, progressive neurodegenerative disorder which presents with involuntary movements, dementia, and behavioral changes. This is a rare, inherited disease that causes the progressive breakdown 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. Adult-onset Huntington disease, the most common form of this disorder, usually appears in a person’s thirties or forties.
Symptoms.
Huntington's disease usually causes movement, cognitive and psychiatric disorders with a wide spectrum of signs and symptoms. Which symptoms appear first varies greatly from person to person.
Some symptoms appear more dominant or have a greater effect on functional ability, but that can change throughout the course of the disease.
Movement disorders.
Muscle problems, such as rigidity or muscle contracture (dystonia)
Slow or abnormal eye movements
Impaired gait, posture and balance
Difficulty with speech or swallowing
Cognitive disorders
Difficulty organizing, prioritizing or focusing on tasks
Lack of flexibility or the tendency to get stuck on a thought, behavior or action
Lack of awareness of one's own behaviors and abilities
Slowness in processing thoughts
Difficulty in learning new information.
Psychiatric disorders.
️ Feelings of irritability, sadness or apathy
️ Social withdrawal
️ Insomnia
️ 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.
️ Mutations in the HTT gene cause Huntington disease. The HTT gene provides instructions for making a protein called huntingtin.
Complications.
After Huntington's disease starts, a person's functional abilities gradually worsen over time.
The time from disease emergence to death is often about 10 to 30 years.
Someone with Huntington's disease is generally able to understand language and has an awareness of family and friends, though some won't recognize family members.
Common causes of death include:
Pneumonia or other infections
Injuries related to falls
Complications related to the inability to swallow.
Prevention.
️People with a known family history of Huntington's disease are understandably concerned about whether they may pass the Huntington gene on to their children.
️These people may consider genetic testing and family planning options.
️A genetic counselor will discuss the potential risks of a positive test result, which would indicate that the parent will develop the disease.
Physiotherapy Management.
️ People with HD require extra time to carry out everyday tasks. It is important for people with HD to focus on one activity at a time.
️ People with HD may not initiate activities but with encouragement can engage successfully in them and experience enjoyment.
️ Standard physiotherapy for HD includes;
▪️ Gait re-education
▪️ Balance retraining
▪️ Fall prevention/management
▪️ Aerobic capacity
▪️ Muscle strengthening
▪️ Wheelchair prescription and training
▪️ Respiratory function
▪️ Task-specific reach, grasp, and manipulation.
References
https://www.mayoclinic.org/diseases-conditions/huntingtons-disease/symptoms-causes/syc-20356117#:~:text=Overview,(cognitive)%20and%20psychiatric%20disorders
https://medlineplus.gov/genetics/condition/huntington-disease/#frequency
Omal Senanayake.
