Westphal disease also known as Huntington’s disease-Westphal variant or juvenile Huntington’s disease, is a subtype of Huntington’s disease. Huntington’s disease is a condition that involves the degeneration of the brain, and includes motor, cognitive, behavioral, and psychiatric symtoms that worsen over time.
This specific type of Huntington’s disease usually starts before the age of 20 and most individuals with this condition pass away within 10 years of onset. Common symptoms include stiffness of the legs, clumsiness of the legs and arms, decline in cognitive function, changes in behavior, as well as having seizures.
Westphal disease is a genetic condition that involves changes in the function of HTT (huntingtin) gene. The HTT gene normally works to create a protein called huntingtin that is important for the cells of the brain. When huntingtin does not work correctly, the cells in certain areas of the brain may die. Westphal disease is inherited in an autosomal dominant manner. Autosomal dominant means that an individual only needs one copy of the changed gene or mutation that causes the condition. Additionally, the severity and earlier onset of Huntington's disease can increase from one generation to the next with the increase in changes to the HTT gene.
Westphal disease is usually diagnosed by looking at symptoms, family history, and genetic test results of a patient. Most children with this condition have several symptoms by the time they are evaluated by a physician. There is currently no cure for this condition, so treatment aims to improve quality of life and reduce symptoms. Some common treatments include medication to help with the muscle stiffness, seizures, and behavioral problems, as well as physical and occupational therapy.
If you or a family member has been diagnosed with Westphal disease, talk to your doctor about the most current treatment options.
Description Last Updated: Aug 25, 2018