1. ALD and Muscular Dystrophy Heather Vandevanter Period 2

2. ALD Adrenoleukodystrophy OVERVIEW Myelin (insulation around nerves) breaks down over time Myelin (insulation around nerves) breaks down over time Nerves can’t function properly or at all w/out Myelin Nerves can’t function properly or at all w/out Myelin Progressive disorder Progressive disorder

3. WHAT CAUSES ALD? WHO GETS IT? Body can’t break down fat molecules which build, clog, and hurt nerve cells in brain/spinal cord Body can’t break down fat molecules which build, clog, and hurt nerve cells in brain/spinal cord Inherited Genetic disorder linked to X (woman) chromosome Inherited Genetic disorder linked to X (woman) chromosome

4. DO ALL ALD PATIENTS DIE? 45% of cases devastating (nerves in brain are destroyed w/in 6 mo. to 2 yrs.) 45% of cases devastating (nerves in brain are destroyed w/in 6 mo. to 2 yrs.) 45% of cases = AMN (adrenomyeloneuropathy). Like Multiple sclerosis, there’s body damage, not brain 45% of cases = AMN (adrenomyeloneuropathy). Like Multiple sclerosis, there’s body damage, not brain 10% of ALD cases start with Addison’s disease and may slowly move to AMN (least severe) 10% of ALD cases start with Addison’s disease and may slowly move to AMN (least severe)

5. CAN ALD BE CURED? Olive oil / Low fat diet? Olive oil / Low fat diet? Lovastatin drug? Lovastatin drug? Bone Marrow Transplant? Bone Marrow Transplant? Hormone replacement? Hormone replacement?

6. MUSCULAR DYSTROPHY OVERVIEW Progressive weakness / degeneration of skeletal muscles that control movement Progressive weakness / degeneration of skeletal muscles that control movement Birth- Congenital Muscular Dystrophy Birth- Congenital Muscular Dystrophy Adolescence- Becker Muscular Dystrophy Adolescence- Becker Muscular Dystrophy

7. IS MUSCLE DYSTROPHY ALWAYS DEVASTATING? Three Types: Three Types: Duchenne: Mutation in gene that regulates Dystrophin, or protein the maintains muscle fiber ( walk- 12, breath- 20) Duchenne: Mutation in gene that regulates Dystrophin, or protein the maintains muscle fiber ( walk- 12, breath- 20) Facioscapulohumeral: Progresses slowly (mild  disabling) Facioscapulohumeral: Progresses slowly (mild  disabling) Myotonic: Characterized by Myotonia (prolonged muscle spasms) Myotonic: Characterized by Myotonia (prolonged muscle spasms) Can be treated w/ certain meds Can be treated w/ certain meds

8. CAN MUSCULAR DYSTROPHY BE CURED? Like ALD, still no cure Like ALD, still no cure Respitory/Physical Therapy for Muscles Respitory/Physical Therapy for Muscles Orthopedic appliances for support Orthopedic appliances for support

9. THE END