Huntington’s disease, also sometimes known as Huntington’s chorea, is a progressive disorder of the brain. It is a genetic disorder and usually is inherited from one generation to the next.
Signs and Symptoms
Huntington’s disease presents in many ways. While signs and symptoms appear typically in middle age after age 30, they can start at any time.
The first symptoms are often changes in mood, personality, cognition, and behavior. This may not necessarily be recognized as Huntington’s disease if patient does not have a clear known family history of Huntington’s disease and the extent of the symptoms may vary widely between individuals.
As the disease progresses patients develop chorea, which translates to dance in ancient Greek, and refers to involuntary jerky random uncontrollable movements. Patients may have rigidity and abnormal posturing.
Neuropsychiatric symptoms such as anxiety, depression, irritability, and aggression may also be present. This can also be accompanied by other symptoms and behaviors such as gambling, compulsiveness, and hypersexuality.
Patients also develop memory difficulty along with difficulty completing complex, then simple and basic tasks. As the disease progresses patients lose the ability to do daily activities, may have seizures, and the disease invariably leads to death.
If a patient does not have a clear family history of Huntington’s disease that is known, signs and symptoms may be present for years before a formal diagnosis.
Diagnosis will often consist of referral to a neurologist. He will conduct a thorough history and complete examination. He may then refer the patient for a psychological examination and genetic testing. Blood work and imaging may also be performed.
Unfortunately, we do not have any currently available therapies that stop the progression of the disease and management is aimed at alleviating symptoms.
The goal of treatment is to ease the burden of the disease and improve quality of life. This can be done with medications combined with different types of therapy including physical therapy, occupational therapy, diet and exercise, and speech therapy. Certain procedures may be helpful.
A doctor may also refer the patient for genetic counseling if the patient has or is considering having children.
Patients living with Huntington’s Disease can be certified for medical marijuana by an authorized provider in NY. Medical marijuana can potentially help sufferers alleviate the burden of Huntington’s Disease.
Huntington’s Disease Society of America – http://hdsa.org/about-hdsa/
We Have a Face – https://www.wehaveaface.org/resources