Date:01 December 2015 Time:6:30 – 9:30 pm Location:Emory University Presentation Room 308 Speakers:Dr. John Richardson National DMD Assoc. President Got Questions? We Have Answers M uscular Dystrophy is a broad term that describes a genetically inherited disorder involving the muscles. One of the nine types of muscular dystrophy is Duchenne Muscular Dystrophy (DMD). DMD is a genetic disorder caused by a mutation in a gene on the X chromosome that prevents the production of dystrophin (1). This disorder is found primarily in boys and is characterized by progressive muscle degeneration and weakness. Overtime, the disease causes the muscle tissue to be broken down and eventually replaced by fatty deposits (pseudohypertrophy) (2). Due to the progressive deterioration of the muscles this disease will lead to paralysis and eventually death. The average life expectancy for patients afflicted with DMD is around 25 (3). Inheritance of DMD: Duchenne Muscular Dystrophy is inherited in an X-linked recessive pattern. The gene associated with DMD is located on the X chromosome, which is one of the two sex chromosomes. Males only have one X chromosome, therefore, one altered copy of the gene in each cell is sufficient to cause the condition. Unlike males, females have two X chromosomes, so a mutation would have to occur in both copies of the gene to cause the disorder. Duchenne Muscular Dystrophy FREE Genetic Counseling

Muscular Dystrophy is a broad term that describes a genetically inherited disorder involving the muscles. One of the nine types of muscular dystrophy is Duchenne Muscular Dystrophy (DMD). DMD is a genetic disorder caused by a mutation in a gene on the X chromosome that prevents the production of dystrophin (1). This disorder is found primarily in boys and is characterized by progressive muscle degeneration and weakness. Overtime, the disease causes the muscle tissue to be broken down and eventually replaced by fatty deposits (pseudohypertrophy) (2). Due to the progressive deterioration of the muscles this disease will lead to paralysis and eventually death. The average life expectancy for patients afflicted with DMD is around 25 (3). Inheritance of DMD: Duchenne Muscular Dystrophy is inherited in an X-linked recessive pattern. The gene associated with DMD is located on the X chromosome, which is one of the two sex chromosomes. Males only have one X chromosome, therefore, one altered copy of the gene in each cell is sufficient to cause the condition. Unlike males, females have two X chromosomes, so a mutation would have to occur in both copies of the gene to cause the disorder/ Living with DMD