A Quick Note about Huntington’s Chorea

Today June 4th, 2025, I had a patient today who has Huntington’s chorea. So sad. It’s still in the early stages, but it has already started to affect their ability to speak and walk. My heart goes out to them, and I’ll be praying for their strength and peace.

A Note about Huntington’s Chorea (Huntington’s Disease)

Causes:

Huntington’s disease is a genetic disorder caused by a mutation in the HTT gene on chromosome 4. This gene produces a protein called huntingtin, and the mutation involves a repeat expansion of the DNA sequence CAG. The more repeats present, the earlier and more severe the disease. It is inherited in an autosomal dominant pattern, meaning a child has a 50% chance of inheriting it if one parent carries the gene.

Major Signs and Symptoms:

 Symptoms usually appear between the ages of 30 and 50 but can begin earlier or later. They progress gradually and fall into three main categories:

Motor Symptoms:

Involuntary jerking or writhing movements (chorea)

Muscle rigidity or dystonia

Difficulty with balance, walking, and coordination

Slurred speech and difficulty swallowing

Cognitive Symptoms:

Trouble with memory, attention, and problem-solving

Impaired judgment

Dementia in later stages

Psychiatric Symptoms:

Depression and anxiety

Irritability or aggression

Mood swings

Obsessive-compulsive behaviors.

How it's diagnosed:

Family history review

Neurological examination

Genetic testing confirms the presence of the HTT gene mutation

Brain imaging (MRI or CT) may show changes in brain structure

Cognitive and psychiatric evaluations

Treatment:

 The saddest part is that there is no cure, but treatment often focuses on managing symptoms and improving quality of life:

Medications:

Tetrabenazine or deutetrabenazine for chorea

Antidepressants (SSRIs) for mood symptoms

Antipsychotics for severe behavioral issues

Therapies:

Physical therapy to improve mobility and prevent falls

Speech therapy to assist with communication and swallowing

Occupational therapy to help maintain daily living skills.

Supportive care and services:

Patient and family counseling and support services. 

Nutritional support as swallowing becomes difficult with time.