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Huntington Disease

An inherited, progressive neurodegenerative disorder caused by a mutation in the HTT gene.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Nöroloji department. Book Appointment →

What is Huntington Disease?

Huntington disease is an autosomal dominant, progressive neurodegenerative disorder caused by a CAG trinucleotide repeat expansion in the HTT gene. It leads to neuronal loss, particularly in the basal ganglia, with the striatum most affected.

Symptoms typically appear between the ages of 30 and 50, although juvenile forms can occur. Involuntary movements (chorea), cognitive deterioration and psychiatric features form the three core dimensions of the disease.

Each child of an affected parent has a 50% chance of inheriting the mutation. Genetic counselling and presymptomatic testing are crucial for family planning.

Symptoms

Involuntary, irregular movements (chorea)
Difficulty with balance and walking
Swallowing and speech disturbance
Memory loss and impaired executive function
Depression, irritability and obsessive symptoms
Weight loss and sleep disturbance

Risk Factors

36 or more CAG repeats in the HTT gene
A family member diagnosed with Huntington disease
Higher CAG repeat number (linked to earlier onset)
Paternal transmission with repeat expansion (anticipation)
40 or more CAG repeats in juvenile forms

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • For genetic counselling when there is a family history of Huntington disease
  • If unexplained involuntary movements or coordination problems develop
  • When sudden personality change or psychiatric symptoms appear
  • If swallowing difficulty or significant weight loss occurs

Treatment Methods

01
Tetrabenazine or deutetrabenazine for chorea
02
Antidepressants and antipsychotics for psychiatric symptoms
03
Physiotherapy to support movement and balance
04
Speech and language therapy and nutritional support
05
Psychosocial support and family counselling

Which Department to Visit?

You can visit our Nöroloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.