Molecular Mechanisms of Inherited disorfers

Question 1

X-linked muscular dystrophies

Answer 1

• replacement of musle fibres by fibrofatty tissue
• Dystrophin gene: mutations during translocation process 2 types:
• Duchenne Muscular Dystrophy (DMD)
• Becker Muscular Dystrophy: mild
• Dystrophin protein found in muscle cells and some neurons Dx in boys usually occurs b/w 16 mo & 8 years high CK-MM initially levels fall during later stages immunostain for Dystrophin absent in DMD & low in Beckers
• Death from DMD usually occurs by age 30
• X-linked Receissve Sx:
• delays in standing, walking, sitting
• learning difficulties
• Gowers’ maneuver Rx: no specific rx exists
• Tracheostomy & ventilatory support for breathing
• Orthopedic devices for support & occassionally surgery to correct problems
• gene therapy