But medical professionals know Guthrie for another reason. He is the most famous person to suffer from Huntington’s disease, a progressive neurological condition.
Huntington’s disease causes nerve cells in the brain to degenerate, which eventually results in problems with cognitive functions and movement, in turn leading to psychiatric disorders and death. The symptoms typically start when sufferers reach their 30s or 40s, but there are cases when it starts before age 20 and is termed juvenile Huntington’s disease. Huntington’s disease is genetic and runs in families.
Guthrie came along at a time when there was little understanding about the disease. Many of his doctors initially believed alcoholism and schizophrenia were the cause of his deteriorating health, at least before the Huntington’s diagnosis was confirmed. He died at age 55 from the disease, eventually unable to control his body movements or recognize his family.
Classifying Rare Diseases
Huntington’s disease is classified as a rare disease. A disease is determined "rare" if it affects less than 200,000 people in the United States at any given point.
Many rare diseases have no identified cause. Huntington’s is one doctors do understand; it's derived from mutations in a single gene. Unfortunately, these genetic mutations can be passed along to future generations, which means that once it appears, there’s a strong chance it may affect someone in the family tree. Huntington's disease is an autosomal dominant disorder, and someone only needs one copy of the defective gene to develop the disorder.
Grim Statistics for Sufferers
While diseases like Huntington’s are rare, there are numerous cases. Among the more well-known types of rare disease are Huntington’s disease, cystic fibrosis, which affects the respiratory and digestive systems; muscular dystrophy, a wasting disease of the muscles; and the BRCA1 and BRCA2 cancer genes, which are responsible for certain types of ovarian cancers and breast cancers. There’s also the FAP gene, which can lead to colon cancer.
More than 350 million people have a rare disease. Huntington’s disease can be managed, but there is no cure, and the results are inevitably fatal.
When Huntington’s disease manifests, it has voluntary and involuntary symptoms. These can include jerking or writhing movements (formally called chorea); rigid muscles or contracting muscles (dystonia); abnormal or slow eye movements; impaired gait, posture and balance; and difficulty with speech or swallowing, both caused by physical deterioration in the apparatus that makes them possible.
Cognitive problems for those afflicted with Huntington’s disease can include difficulty organizing tasks or focusing on them; being forced to repeat thoughts or actions; a lack of impulse control, in some cases, leading to sexual promiscuity; a blindness to one’s behavior; and difficulty in learning new information or processing thoughts.
Depression is the most common psychiatric disorder that comes with Huntington’s disease. It’s more than a reaction to news of the disease’s onset – rather, it appears the disease injures certain areas of the brain, changing their function and inducing irritability, apathy or sadness; insomnia; social withdrawal; loss of energy and extreme fatigue; and frequent suicidal thoughts.
Associated mental disorders may include obsessive-compulsive disorders, causing repetitive behaviors; mania, which can lead to grandiose thoughts, impulsive behavior and extreme mood swings; and bipolar disorder, in which mania and depression swings are common.
People with Huntington’s disease also seem to lose weight as the disease progresses.
Juvenile Huntington’s Disease
The progression and symptoms of Huntington’s disease before age 30 seems to have slightly different effects. There are losses in academic and physical skills acquired before the onset of symptoms, and academic performance typically suffers. There are behavioral changes as well, and physical problems include an inability to produce legible handwriting; walking stiffly because of rigid or contracted muscles; and tremors, seizures and other involuntary movements.
Because Huntington’s disease symptoms can resemble other conditions, it’s important to have a medical professional evaluate the problems and diagnose them. A diagnosis will arrive after a physical exam, a talk about family medical history, and neurological and psychiatric examinations.
Doctors typically will test motor symptoms, including reflexes, coordination and balance; sensory acuity, including vision and eye movement and hearing; psychiatric issues, like mood and mental status; and may test memory, reasoning, language function and mental agility. There may be a scan done of the brain to detect structural changes.
A person with Huntington’s disease will deteriorate, so help with daily living and care eventually will be needed. The final stages will see the patient unable to move or speak, but he or she still will be aware of surroundings and will understand speech. Death at that stage usually comes from pneumonia, infections, swallowing complications or injuries from falls.
In some cases, patients may be asked to take a test for the defective gene that causes Huntington’s disease. This is usually done if there is no known family history of the affliction. While the test won’t provide a road map to treatment and can bring disturbing news, it will allow planning for medical care and can affect decisions to have children. Keep in mind that taking the test may affect insurability and create the stress of knowing a prominent and fatal disease can appear.
Medications that Treat Huntington's Disease
There are medications that can help with the movement problems created by Huntington’s disease. Tetrabenazine (commercially sold as Xenazine) is a Food and Drug Administration-approved drug that will suppress involuntary jerking and writhing. However, use of the drug needs to be closely monitored because it has been known to worsen any existing problems with depression or other psychiatric illnesses.
Some doctors recommend antipsychotic drugs, including Haldol and chlorpromazine, to suppress jerking movements. They can increase the muscle contractions and rigidity associated with Huntington’s disease.
Risperdal, Seroquel, Keppra and Klonopin are other drugs that may be recommended as part of an attempt to slow down or suppress certain Huntington’s disease issues. But all come with side effects, including worsening existing symptoms, and need to be monitored closely.
Stem cell therapy and further genetic research offer some hope for Huntington’s disease sufferers that a cure or treatment that will stop its progression may arrive at some point, as researchers unlock the mysteries of genetic defects. Until then, slowing the disease’s symptoms is the best hope that can be provided for a quality life.