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.