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Neuromuscular diseases

Huntington disease

An inherited brain disease that usually begins in adulthood and affects movement, thinking and mood.

Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source

Orphanet has a guideline for emergency doctors for this disease (language: German, Spanish, French, Italian). See on Orphanet

Prepare an emergency card

This page is translated from the Turkish original.

Understanding the disease

This section has not yet been reviewed by a physician. It summarises patient information from sources such as MedlinePlus, Orphanet and the NHS in plain language. The disease can differ from person to person; talk to your doctor about diagnosis and treatment.

What happens in this disease?

Huntington disease is an inherited disease that affects nerve cells in the brain over time. It affects movement, thinking and mood. It often begins when people are in their 30s or 40s. Less often, it can begin in childhood or adolescence.

Which symptoms can occur?

The first symptoms may be mild and increase slowly. The disease is progressive and shortens life.

  • Involuntary, sudden, jerky movements, called chorea (common)
  • Unsteadiness and reduced hand skills (common)
  • Difficulty concentrating, planning and remembering (common)
  • Mood changes such as depression and irritability (common)
  • Difficulty speaking and swallowing (as the disease progresses)
  • Weight loss (sometimes)
  • Muscle stiffness and seizures in the type that begins in childhood (sometimes)

How is it diagnosed?

The diagnosis is considered based on the symptoms, a neurological examination and the family history. Brain imaging can also help. The diagnosis is confirmed with a genetic test that shows the change in the HTT gene.

Treatment and care

There is not yet a treatment that stops the disease. Treatment aims to ease involuntary movements, mood problems and sleep problems. Physiotherapy, speech therapy, occupational therapy and psychological support are important. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

The disease is passed on through dominant inheritance: a single changed gene is enough. For each child of a parent with the disease, the chance is 50%. Adults without symptoms can have a test if they wish; this decision is made together with genetic counselling.

Source: MedlinePlus Genetics – Huntington's disease · NHS – Huntington's disease · GeneReviews – Huntington Disease

Key facts

How common is it?
Prevalence: 1-9 per 100 000 (Worldwide) · New cases per year: 1-9 per 1 000 000 (Worldwide)
How is it inherited?
Autosomal dominant
When does it usually start?
Childhood, Adolescence, Adulthood, Older age
Gene(s) involved
HTT

These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.

You are not alone: patient associations in Türkiye

Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.

For all rare diseases: Nadir Hastalıklar Federasyonu

Links checked on October 8, 2026.

Support and help

Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.

News about Huntington

Clinical trials (ClinicalTrials.gov)

A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.

This list is not a treatment recommendation. Treatments tested in phase 1–3 trials are investigational (experimental): their efficacy and safety have not yet been proven and they are not approved treatments. Taking part depends on each trial’s criteria and a physician’s assessment; the first step is to talk to the doctor who manages your care.

Questions you can ask your doctor

  • Could this trial be suitable for us?
  • If we take part, how would current treatment and check-ups be affected?
  • Where does the trial take place, and how are travel and accommodation handled?
  • What happens if we want to leave the trial?

ClinicalTrials.gov lists 36 active interventional studies for this disease. 21 are recruiting now; none has a site in Türkiye. Last checked: October 7, 2026.

Selected records (studies with a site in Türkiye first):

See all studies on ClinicalTrials.gov · Joining clinical trials

Neuromuscular diseases: other news

Medical codes (for talking with your doctor and finding sources)

These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.

Orphanet code: ORPHA:399 · ICD-11 8A01.10

Codes checked against WHO ICD-11 and Orphanet on October 6, 2026.

This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.

The information on these pages is for general information only and does not replace medical advice. Talk to your doctor about diagnosis and treatment decisions. In an emergency in Türkiye, call 112.

Every update is based on an open source and labeled with its level of evidence. No advertising and no drug brand names. Our scientific principles

This page was translated from Turkish by the Doktorclub editorial team.