Huntington's disease, also known as Huntington's chorea, is an inherited neurodegenerative disorder caused by a mutation in the HTT gene on chromosome 4. This mutation leads to an abnormal repetition of the CAG DNA sequence. The mutated gene produces an abnormal protein called Huntington, which accumulates in nerve cells and damages the brain. The more the CAG sequence repeats, the higher the risk of early onset, rapid progression, and the development of movement, cognitive, and psychiatric disorders.

Doctor Do Thi Thu Hang from the Neurology Unit at Tam Anh General Clinic, District 7, explains that if a parent has the disease, their child has a 50% chance of carrying the Huntington's gene. The disease typically begins between the ages of 30 and 50 and progresses gradually over 13-15 years from the first symptom. Early onset before the age of 20 (juvenile Huntington's disease) often presents with muscle stiffness, tremors, or seizures, which can be mistaken for Parkinson's disease.

People with Huntington's disease often exhibit involuntary movements such as twisting of the limbs, head shaking, unusual facial grimacing, and unsteady gait. Some individuals experience difficulty maintaining balance, slow reflexes, and reduced ability to perform intentional movements like sticking out their tongue, clenching their fist, or moving their eyes without turning their head.

Psychological disturbances such as sudden mood swings, irritability, depression, loss of interest in life, negative thoughts, and suicidal ideation can also occur. Some cases may exhibit obsessive-compulsive behaviors, paranoia, or antisocial behavior, impacting work, relationships, and quality of life. The disease also affects cognitive abilities, leading to slow thinking, reduced concentration, poor information processing, and difficulty planning or controlling behavior.

Doctor Thu Hang examines and assesses a patient's arm muscle strength. Photo illustration: Tam Anh General Hospital. Tam Anh General Hospital

Doctor Thu Hang examines and assesses a patient's arm muscle strength. Photo illustration: Tam Anh General Hospital. Tam Anh General Hospital

Huntington's disease symptoms can be easily confused with dementia. In the later stages, the choreatic movements may diminish, replaced by stiffness and immobility. The patient loses the ability to walk, eat, communicate, and requires comprehensive care.

According to Doctor Hang, there is currently no specific cure for Huntington's disease, but early detection through genetic testing and disease management are possible. For diagnosis, patients undergo a physical exam, review of family history, and genetic testing to determine the number of CAG repeats in the HTT gene. Brain MRI or CT scans also help assess atrophy of the caudate nucleus and temporal cortex, common characteristics of the disease.

The primary treatment goals are symptom management and support for motor, cognitive, and psychological function. Medications can be prescribed, along with therapies such as physical therapy, occupational therapy, speech therapy, and psychosocial support to maintain quality of life and independence in daily activities. Doctor Thu Hang advises high-risk individuals, such as women of childbearing age or couples planning to have children, to seek genetic counseling before pregnancy to proactively prevent the transmission of the disease to the next generation.

Phuong Thy