Presentation on theme: "Commonly referred to as DMD The disease was first described by the Neapolitan physician Giovanni Semmola in 1834 and Gaetano Conte in 1836 DMD is named."— Presentation transcript:
Commonly referred to as DMD The disease was first described by the Neapolitan physician Giovanni Semmola in 1834 and Gaetano Conte in 1836 DMD is named after the French neurologist Guillaume Benjamin Amand Duchenne Duchenne was the first who did a biopsy to obtain tissue from a living patient for microscopic examination.
Inheritance Caused by an absense of dystrophin Dystrophin is a protein that helps keep muscle cells intact DMD has x-linked recessive inheritance pattern Passed on by the mother Not all children of a carrier will get the disease 80% of carriers of DMD do not have any signs or symptoms of the disease Females who carry the changed copy of the gene have a 50% chance of passing it on 25% of having a child with DMD if the mom is a carrier DMD affects 1 out of 3,500 male births worldwide
DMD is one of nine muscle dystrophies Causes muscle weakness that can begin as early as three years old The muscle weakness starts in the hip muscles and then spreads to the pelvic, thigh, and shoulder areas DMD is life-threatening and most cases of DMD die at age 30 Externally a person with DMD looks abnormally skinny and fragile Internally the affected person’s muscles are much smaller than those of an unaffected person
Treatment for DMD is aimed at the symptoms Aggressive management of dilated cardiomyopathy with anti-congestive medications is used In severe cases cardiac transplantation is used Assistive devices for respiratory complications may be needed The steroid prednisone is given to patients with DMD to improve the strength and function of the individuals Prednisone has also shown to prolong the ability to walk by 2 to 5 years Physical therapy is used to promote mobility and prevent contractures Surgery may be needed for severe contractures and scoliosis Several other therapies are under investigation such as coenzyme Q10, glutamine, pentoxifyline, and PTC124
20% of carriers of DMD will show symptoms including muscle weakness and cardiac abnormalities A clinical diagnosis may be made when a boy has progressive symmetrical muscle weakness The symptoms present before age 5 years, and they often have extremely elevated creatine kinase blood levels If untreated, the affected boys become wheelchair dependent before age 13 years A muscle biopsy (taking a sample of muscle) for dystrophin studies can be done to look for abnormal levels of dystrophin in the muscle The dystrophin protein can be visualized by staining the muscle sample with a special dye that allows you to see the dystrophin protein