Muscular Dystrophy

1. Muscular Dystrophy An overview of the disease

2. Muscular Dystrophy • Known as MD • Genetic disease that weakens the muscles • Progressive disease characterized by: Skeletal Muscle weakness Defects in muscle proteins Death of muscle cells

3. Nine Subclasses • Duchenne 2-6 yrs age of onset most common lifespan as long as 40 yrs • Becker (BMD) – less severe form of Duchenne live normal lifespan • Limb girdle - upper arms and legs death due to cardiac problems • Congenital – birth onset very slow progression short life span • Fascioscapulohumeral – affects face shoulders upper arms occurs in teenyears poorly understood • Myotonic – 20 to 40 yrs onset most common adult form • Oculopharyngeal – 40 to 70 yrs • Distal – 0nset 20 -60 yrs affects distal limbs slow • Emery-Dreifuss childhood to teens limb deformities sudden death due to heart problems

4. Genetic disease found predominatly in males but can be found in females. • Symptoms include: • Progressive muscle wasting • Poor balnce • Frequent falls • Walking difficulty • Breathing problems • Calf pain • Drooping eyelids • Gonadal atrophy

5. Diagnosis • Muscle biopsy • DNA blood tests • Physical exam • Loss of muscle mass can be hard to detect due to build up of fat and connective tissue (pseudohypertrophy)

6. Prognosis • Varies by type and progression • Can occur in adults but usually found in children • No known treatment

7. Multiple Sclerosis • Autoimmune system attacks central nervous system • Occurs in young adults more common in females • First described by Charcot in 1868 • Affects nerve cells in the brain and spinal cord • Leaves scars on the brain – lesions or plaque • Mechanism well documented cause unknown • No known cure • Often leads to physical and cognitive disability • Lifespan is close to normal

8. Disease Subtypes • Relapsing remitting • Unpredictable relapses • Followed by months to years of remission • Secondary progressive • Starts as above then begin to have progressive neurologic decline w/o periods of remission • Primary progressive • 10-15% of cases • Never have remission after onset • Progressive relapsing • Steady decline • Suffer clear attacks • Least common

9. Cerebral Palsy • Brain paralysis • Abnormal development or damage to parts of brain • Appears early in life

10. Manifestations • Spasticity - muscle stiffness • Mental retardation • Breathing problems • Learning disabilities • Bladder and bowel problems • Skeletal deformities

11. Types of CP • Spastic (pyramidal) increased muscle tone • Dyskinetic (extrapyramidal) • Athetoid involuntary purposeless movements • Ataxic affects balance and coordination • Mixed