Presentation on theme: "Duchenne Muscular Dystrophy (DMD) Thomas Cooper English 2010 Professor Weatbrook."— Presentation transcript:
Duchenne Muscular Dystrophy (DMD) Thomas Cooper English 2010 Professor Weatbrook
Table of Contents History Causes (Inheritance) Symptoms of DMD Living with DMD Educate yourself How to Help
Discovered by French neurologist Guillaume Benjamin Amand Duchenne in the 1860s; However, little was known until the 1980s about DMD! In 1986, MDA-supported researchers identified a specific gene on the X chromosome that, when flawed (mutated), leads to DMD. In 1987, the protein associated with this gene was discovered and named dystrophin. Lack of the dystrophin protein in muscle cells causes them to be fragile and easily damaged. History
DMD is an x-linked form of muscular dystrophy that is characterized by a rapidly progressive muscle weakness. Females will typically be carriers for the disease while males will be affected. Typically, a female carrier will be unaware they carry a mutation until they have an affected son. The son of a carrier mother has a 50% chance of inheriting the defective gene from his mother. The daughter of a carrier mother has a 50% chance of being a carrier or having two normal copies of the gene. In all cases, the father will either pass a normal Y to his son or a normal X to his daughter What does this mean? DMD is the most severe case of muscular dystrophy! Mothers carry the gene, and boys are the ones affected in almost all cases. Causes (Inheritance)
Symptoms usually appear before age 6; lab tests may be done at birth to see if your child carries the gene. Symptoms: Awkward manner of walking, stepping, or running. Fatigue Difficulty with motor skills. Increased Lumbar lordosis, leading to shortening of the hip-flexor muscles. This has an effect on overall posture and a manner of walking, stepping, or running. Muscle contractures of achilles tendon and hamstrings impair functionality because the muscle fibers shorten and fibrosis occurs in connective tissue Progressive difficulty walking Muscle fiber deformities Enlarging of tongue and calf muscles. Higher risk of neurobehavioral disorders (e.g., ADHD), learning disorders (dyslexia), and non- progressive weaknesses in specific cognitive skills (in particular short-term verbal memory), which are believed to be the result of absent or dysfunctional dystrophin in the brain. Eventual loss of ability to walk (usually by the age of 12). Skeletal deformities. Symptoms of DMD
1 in 3,600 boys are diagnosed with DMD. Braces are usually worn by age 10. Most boys are wheelchair bound by age 12. Most boys lose ability to write by the teen years. They cannot play sports, participate in normal everyday activities, or even hold a ball. Boys are considered fortunate if they live to be 25. Homes and vehicles must be wheelchair accessible. Living with DMD
DMD affects 1 in 3,600 boys! Yet many Americans are not even aware of this disease! DMD patients are never able to work. They cannot even use the restroom themselves by the time they are wheel chair bound. They are fully reliant on someone else. Families must make their homes and vehicles wheelchair accessible; this can be very expensive! With so many limiatations and accomodations to be met, majority of families cannot pay their own bills. Educate yourself!
How to Help The first and easiest way to support families of DMD is to recognize the disease. MDA (Muscular Dystrophy Association) holds annual activities such as: 5k’s, fun runs, carnivals, etc. Attend! DMD patients really struggle with communication and emotional skills. Be kind, patient, and understanding. Tell a friend! The more people aware of DMD, the more support the patients will have both mentally and financially!