Huntington’s Disease FAQs Part-2 | Symptoms, Diagnosis, and Treatment

1) How is Huntington's disease diagnosed?

Diagnosing Huntington's disease (HD) involves a combination of factors. Doctors typically start by taking a detailed family history. If HD is suspected based on symptoms and family history, a neurological exam is conducted to assess movement, coordination, reflexes, and mental status.

Neurological examination:

This helps to identify characteristic signs of HD, such as involuntary movements (chorea), slowed movements (bradykinesia), and changes in mood or behaviour.

Genetic testing:

This is the most definitive way to confirm a diagnosis. By analysing a blood sample, doctors can identify the mutated gene responsible for HD.

2) What is a genetic test for Huntington's disease?

A genetic test for Huntington's disease is a laboratory procedure that examines your DNA to determine if you carry the faulty gene that causes HD. It involves a simple blood draw. The blood sample is then analysed to look for specific changes in the huntingtin gene. This test can provide a definitive diagnosis of HD or confirm that you do not carry the gene.

3) Should I get tested for Huntington's disease?

Deciding whether to undergo genetic testing for Huntington's disease is a deeply personal choice with significant implications. It's essential to carefully consider the potential emotional, psychological, and practical consequences of the results. Genetic counselling can help you weigh the pros and cons and make an informed decision.

4) Is genetic counselling available for Huntington's disease?

Genetic counselling is a valuable resource for individuals and families affected by Huntington's disease. Genetic counsellors are trained professionals who can provide information about the disease, inheritance patterns, and testing options. They can also offer emotional support and help you understand the potential implications of genetic test results.

5) Can Huntington's disease be diagnosed before symptoms appear?

Yes, Huntington's disease can be diagnosed before symptoms develop through genetic testing. This is particularly useful for individuals with a family history of HD who are concerned about their risk. Early diagnosis can allow for planning and preparation, as well as participation in research studies.

6) Is there a treatment for Huntington's disease?

Currently, there is no cure for Huntington's disease. However, various treatments can help manage symptoms and improve quality of life. Medications can be used to address movement disorders, mood swings, depression, and other symptoms. These medications work by targeting specific brain chemicals involved in these conditions.

7) What are the goals of Huntington's disease treatment?

The primary goals of Huntington's disease treatment are to manage symptoms, slow disease progression, and improve quality of life. Treatment plans are tailored to individual needs and may involve a combination of medications, therapies, and supportive services.

8) Can physical therapy help with Huntington's disease?

Physical therapy is an essential component of Huntington's disease management. It helps maintain mobility, balance, and strength by teaching exercises and techniques to improve coordination and prevent falls. Physical therapists can also provide assistive devices and recommend modifications to the home environment.

9) Can occupational therapy help with Huntington's disease?

Occupational therapy focuses on helping individuals with Huntington's disease maintain independence and participate in daily activities. Therapists can provide strategies for adapting to physical and cognitive changes, such as using assistive devices, developing energy-saving techniques, and creating a safe home environment.

10) Is speech therapy beneficial for people with Huntington's disease?

Speech therapy can significantly improve communication and swallowing difficulties in people with Huntington's disease. Therapists can help with articulation, voice production, and swallowing exercises. They can also provide strategies for using alternative communication methods if speech becomes impaired.