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Vimukthi Chandula

Huntington Disease


 


  • 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.

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