Neurology

Huntington's disease: genetic and progressive

A rare hereditary neurodegenerative disease

Dr. Antoine Mercier

Neurologist

6 min read
Medical illustration of Huntington's disease: genetic and progressive

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.