Huntington's disease: genetic and progressive
A rare hereditary neurodegenerative disease
Dr. Antoine Mercier
Neurologist

In simple terms
Chorea, cognitive decline, anticipated genetic testing: understanding Huntington.
An autosomal dominant disease
Huntington's is due to abnormal CAG repeat expansion in the HTT gene. Onset typically 30-50 years. Each child of an affected person has a 50% risk.
Symptoms
Motor (chorea: involuntary jerky movements), cognitive (executive functions, memory), psychiatric (depression, irritability, apathy). Progression over 15-20 years.
Diagnosis
Genetic test (CAG repeat count). Predictive testing with mandatory genetic counseling and psychological follow-up.
Treatments
- Tetrabenazine, deutetrabenazine: chorea
- Antidepressants, antipsychotics for psychiatric symptoms
- Speech and physical therapy
- Antisense oligonucleotides under research (tominersen)
Care
Multidisciplinary specialized centers, patient associations, advance care planning.
The words explained
Medical terms used above, in everyday language.
- Symptom
- A sign you can feel or see that something is wrong, like pain, tiredness or a rash.
- Diagnosis
- The moment a doctor identifies which illness is causing your symptoms.
- Genetic
- Passed down in your family through your genes.
- Cognitive
- Related to thinking: memory, attention, learning and decision-making.
When should you see a doctor?
- Your symptoms last more than a few weeks or keep coming back.
- They get worse quickly, or stop you doing everyday things.
- You notice sudden pain, breathing trouble, fainting or bleeding — seek urgent care.
- You already take medication and want to change anything about it.
This article explains general health information. It does not replace advice from your own doctor.
Frequently asked questions
- What is Huntington's disease: genetic and progressive?
- Chorea, cognitive decline, anticipated genetic testing: understanding Huntington.
- What are the main symptoms or signs of Huntington's disease: genetic and progressive?
- Common signs vary from person to person. The article above lists the symptoms to watch for, how they progress, and when they need medical attention.
- When should you see a doctor for Huntington's disease: genetic and progressive?
- See a doctor if symptoms last more than a few weeks, get worse quickly, stop you doing everyday things, or if you notice sudden pain, breathing trouble, fainting or bleeding.
Related health topics

Pulmonology
Cystic fibrosis: the revolution of CFTR modulators
Kaftrio, respiratory physiotherapy, transplantation: life expectancy has doubled in 30 years.

Blood & Hematology
Sickle cell disease: the world's leading genetic disease
Hydroxyurea, transfusions, gene therapy: advances against sickle cell disease.

Kidney & Urinary
Polycystic kidney disease (ADPKD)
Tolvaptan, blood pressure control, dialysis: managing ADPKD.