Duchenne Muscular Dystrophy or DMD .pptx

Learn about, What is Duchene muscular dystrophy among other types with Proper symptoms and Diagnosis.Also have possible Treatments available for DMD.

1. MUSCULAR DYSTROPHY Navanidhan.M I.M.Sc.Dept.of.Biotechnology , Kongunadu Arts and Science College, Coimbatore, Tamilnadu

2. Muscular Dystrophy A General Term for Tissue Degeneration. Muscular Dystrophies are a group of 9 types of muscular Dystrophies affecting both the boys and Girls. One of these is, Duchenne Muscular Dystrophy

3. Duchenne Muscular Dystrophy(DMD) A Genetic disorder Characterized by Progressive Muscle Degeneration and weakness due to the alterations of a protein called Dystrophin . Dystrophin helps to keep muscle cells intact. 1 st Described by Guillaume Benjamin Amand Duchenne in the 1860’s. In 1986,MDA-Supported researchers identified a particular gene on the X chromosome that ,when Mutated leads to DMD In 1987, Dystrophin was identified and named.

4. The gradual muscle degeneration in people affected by DMD Persists throughout their entire existence , yet it tends to go unnoticed until a parent or caregiver identifies unusual walking or speech patterns around the age of 3.

5. It is estimated that around 1 in 3500 male births worldwide are affected by the most common genetic condition. Source : NORD-National Organization for Rare Disorders,Inc. Rare in Girls and Females has symptoms, Carriers have Heart problems, shortness of breathe or Failure to do moderate exercises.

6. SYMPTOMS Signs and symptoms, which typically appear in early childhood, might include:

7. GENETICS Human Dystrophin gene is the longest known gene, encompassing 2.6 million base pairs of DNA and containing 79 exons. In these, 51 Exons are responsible for DMD . WHY IS IT SO IMPORTANT TO KNOW YOUR MUTATION? To confirm your diagnosis. To enable testing of family members. To determine what mutation-specific therapies may benefit you.

8. STAGES 5 General stages of Duchene; Diagnosis (infancy/childhood) Early ambulatory (childhood) Late ambulatory (late childhood/adolescent/young adult) Early non-ambulatory (adolescent/young adult) Late non-ambulatory (adult) Duchenne has 5 different stages.

9. MECHANISM AND DIAGNOSIS The dystrophin complex has been hypothesized to  act as a membrane stabilizer during muscle contraction to prevent contraction-induced damage . In addition to its structural role, dystrophin complex is also thought to mediate cellular signaling such as Mechanical force transduction and cell adhesion.

10. Due to a genetic mutation, dystrophin in Duchenne Muscular Dystrophy becomes extremely short and dysfunctional, lacking the dystroglycan binding end. Whenever muscles contract, minute ruptures manifest in the membranes. The myocyte's small rips promote the diffusion of diverse molecules into and out of its structure . The most important substance involved in damaging muscle is calcium.

11. Calcium ions are abundantly present in the extracellular space surrounding the myocyte. These ions enter through tiny openings and initiate the activation of proteases. In DMD , High calcium levels activate a surplus of proteases and destroys the Normal functioning protein too.

12. Within the fissures, Creatine kinase , an important molecule, diffuses out of the cell and eventually makes its way into the bloodstream. The presence of heightened Kinases levels is commonly employed as a diagnostic tool for DMD .

13. TREATEMENT Source: @ medicurio

14. Physical therapy Particular operations could include muscle biopsies, foot surgery , insertion of a feeding tube or spinal surgery to correct spinal curvature caused by scoliosis. Surgery The  physical therapy treatment  program included gentle stretching, isometric  muscle  contraction of quadriceps, hamstrings, anterior tibial group etc.

15. Gene therapy Viral Vectors Source: @ medicurio

16. Gene therapy Exon Skipping Source: @ medicurio

17. Source: @ medicurio

18. Steroids Most neurologists recommend that people with Duchenne begin steroids before the plateau phase (generally around 4-5 years of age). The corticosteroids  Prednisone and Deflazacort  are beneficial in the treatment of DMD . The FDA on Feb. 9, 2017, approved deflazacort (brand name Emflaza).

19. THANK YOU!!!