HUNTINGTON’S DISEASE Neil Madadi

WHAT IS HUNTINGTON’S DISEASE?  It is an autosomal dominant inherited disease. Meaning that only one copy of the altered gene is needed to cause the disease. It is a break down of the nerve cells in the brain.  It causes a wide variety of symptoms.  Movement disorders: involuntary jerking, impaired gait, muscle issues (Mayo Clinic)  Cognitive disorders: slowness in processing information and responding to others (Mayo Clinic)  Psychiatric disorders: depression (Mayo Clinic)

PEDIGREE FOR THE JONES FAMILY

POTENTIAL QUESTIONS  What is the chance of my children getting Huntington’s Disease? 50% or greater  What is my life expectancy with Huntington’s Disease? years following diagnosis  Is there any cure or medication available to help? There is no cure, but there are medications available to alleviate the symptoms.

CASE RECOMMENDATION  Genetic testing is available to diagnosis Huntington’s Disease. Blood sample is analyzed for the HD mutation by counting the number of CAG repeats (abnormal gene causes excessive repeats). Those with HD have 40 or more repeats. (Information from NIH National Human Genome Research Institute).  A positive test can allow patients to plan their futures and take control of their lives, but it can also cause emotional trauma.  A negative test may help erase any fear or anxiety.  Others may choose not to take test at all because they don’t want to face any emotional consequences.  Prenatal testing via chorionic villi testing or amniocentesis can indicate whether child will have defective gene.

SOURCES  Mayo Clinic  National Human Genome Research Institute