Huntington's disease is characterized most noticeably by excessive (choreic) movements of the extremities, head and torso. Intellectual decline and emotional disturbance are also consequences of this disease, but chorea garners the most attention. Sufferers of this disease often look as though they are performing a strangely choreographed dance. The movements, completely involuntary, are the result of the destruction of basal ganglia at the cellular level.
Heredity Plays a Part
According the Mayo Clinic, Huntington's is a genetically transmitted, autosomal dominant disorder whereby the children of a person afflicted with Huntington's has a 50 percent chance of developing the disease. Typically striking between the ages of 30 and 40, men and women have an equal chance of inheriting the disorder. Disability and death from respiratory complications usually occurs within 15 to 20 years following diagnosis. As of 2010, there is no treatment for Huntington's disease.
Physical Manifestations
An early assessment tool used to diagnose Huntington's is the patient will be asked to stick out his tongue and hold it out. If the disease is present, the patient will be able to stick the tongue out, but it will dart in and out of the mouth.
Constant purposeless movements, mimicking extreme fidgeting, are the most obvious outward signs and symptoms which confirm a diagnosis of Huntington's.
Patients suffering this disease are unable to consume an adequate amount of calories to compensate for the constant caloric burn of the choreic motions. Weight loss is extreme and patients are further challenged by complications of dysphagia (swallowing difficulties) and aspiration risks. To eat, a patient's food may have to be mechanically altered or pureed, and many times, patients find food no longer appetizing.
As a result of nutritional deficiencies and poor muscle control, patients will lose the ability to walk independently and also become a high risk for pneumonia.
Bowel and bladder incontinence is also common with Huntington's disease, and patients often must resort to wearing adult briefs.
Intellectual and Emotional Factors
Patients with Huntington's usually experience problems with memory, although they may remain completely aware of their surroundings and events happening around them. The most common memory loss is the immediate past; this is due to basal ganglia compromise.
Emotional disturbances manifest as increased irritability, impatience, increased temper, psychosis and frustration, as patients feel trapped by loss of control of their bodies. Patients should be monitored closely for increased sign of depression, suicidal ideation and suicide attempts.
Families and patients are encouraged to seek psychological as well as genetic counseling as soon as a diagnosis of Huntington's is confirmed.
References
- The Mayo Clinic: Huntington's Disease
- "Pathophysiology: A 2-in-1 Reference for Nurses;" Lippincott Williams & Wilkins; 2005
