Huntington’s Disease

Huntington’s disease (HD) is a progressive brain disorder caused by a defective gene. This genetic abnormality leads to changes in the central area of the brain, resulting in motor, mood, and cognitive impairments. Here is an overview of important information related to Huntington’s disease:

About Huntington’s Disease

Huntington’s disease is caused by a single defective gene located on chromosome 4, one of the 23 human chromosomes that carry genetic information. The disease is named after Dr. George Huntington, who first described it in the late 1800s. The defective gene codes for a protein called huntingtin, although its exact function is still not fully understood. The mutated huntingtin protein leads to brain changes that cause involuntary movements, cognitive decline, and mood disturbances such as irritability, depression, and anxiety.

Symptoms

Symptoms of Huntington’s disease typically manifest between the ages of 30 and 50, but they can appear earlier or later in life. The hallmark symptom is uncontrolled movement of the limbs, face, head, and upper body. Cognitive decline is also observed, including difficulties with memory, concentration, judgment, planning, and organization. Mood alterations such as depression, anxiety, and irritability are common, as well as obsessive-compulsive behavior.

Diagnosis

The defective gene responsible for Huntington’s disease was identified in 1993, leading to the availability of a diagnostic genetic test. This test confirms the presence of the defective huntingtin gene in individuals suspected of having Huntington’s disease, even before symptoms develop. Genetic counseling is strongly recommended before and after genetic testing for Huntington’s disease.

Treatment and Outcomes

Currently, there is no cure for Huntington’s disease, and no treatment can halt or slow down the brain changes it causes. Treatment focuses on managing symptoms. For chorea (involuntary movements), atypical antipsychotic drugs like olanzapine or tetrabenazine may be prescribed. Irritability can be addressed with atypical antipsychotics for severe cases and selective serotonin reuptake inhibitors (SSRIs) for milder irritability. SSRIs are also recommended for treating obsessive-compulsive thoughts and actions. Other symptoms such as anxiety, depression, and insomnia are treated according to standard guidelines. Close collaboration with healthcare professionals is essential to finding the most effective treatments and doses for each individual.

In conclusion, Huntington’s disease is a progressive brain disorder caused by a defective gene that leads to motor, mood, and cognitive impairments. While there is no cure currently available, symptom management is possible with various treatments. Ongoing research into Huntington’s disease holds promise for understanding and potentially treating other neurological conditions as well.