Neurology, Addiction and Psychiatry Conference

Huntington's disease, a genetic neurodegenerative disorder, has a characteristic feature: progressive loss of neurons in specific regions of the central nervous system. Its cause is due to a mutation of the HTT gene-the coding gene that encodes for the huntingtin protein. This leads to expansion of a particular DNA sequence known as CAG repeats that manifests in an abnormal protein product of huntingtin, bringing about degeneration and death of neurons in a progressive manner. Huntington's diseases have an onset at or after the age of 30 but, in rare instances, there is early onset, usually before the age of 21.

One of the most characteristic features of Huntington's disease is gradual motor decline. The patient has involuntary movement called chorea which, by definition, are jerky, uncontrollable movements involving various parts of the body. With time, these motor symptoms progressively worsen, causing coordination and balance problems and disrupting voluntary movement such as walking and speaking. Besides the motor dysfunction, Huntington's disease brings significant cognitive impairment which may present as such functions including memory loss, problem judgment and inability to concentrate. The cognitive impairment worsens over time to eventually lead to dementia.

Another important feature of Huntington's disease is the occurrence of psychiatric symptoms; depression, anxiety, and irritability have been noted to occur in most patients, while in some cases of the disease, more severe psychiatric disorders such as psychosis may be present. The combination of both motor and cognitive and psychiatric symptoms makes Huntington's disease an especially tragic disorder that significantly affects the quality of life of both the patient and their family.

Even though a cure for this disease is not yet available in the market, still more research has improved the chances of developing effective treatments. Genetic testing is now possible to find out if one carries the mutated HTT gene; in this way, diagnosis is made even before the beginning of the symptoms and genetic counseling may precede the same. Therapeutic strategies being explored include gene therapies that seek to target at the root cause and neuroprotective drugs that try and preserve the working of neurons.

Supportive care, including physical therapy, occupational therapy, and speech therapy, plays an important role in managing symptoms and improving quality of life for individuals with Huntington’s disease. As research continues, the development of more targeted therapies brings new hope for those affected by this challenging condition.