Duschenne’s Muscular Dystrophy

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Duschenne’s Muscular Dystrophy

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Duschenne’s Muscular Dystrophy

  1. 1. Duschenne Muscular Dystrophy  recessive X-linked form of muscular dystrophy
  2. 2. History: The disease was first described by the Neapolitan physician Giovanni Semmola in 1834 and Gaetano Conte in 1836.  DMD is named after the French neurologist Guillaume Benjamin Amand Duchenne (1806–1875)
  3. 3. Cause: • • Caused by a mutation in the dystrophin gene. Dystrophin gene- codes for the protein dystrophin, an important structural component within muscle tissue that provides structural stability to the dystroglycan comple (DGC) of the cell membrane.
  4. 4. Effect: The lack of dystrophin leads to muscle fibre damage and a gradual weakening of the muscles.
  5. 5. Inheritance:
  6. 6. Sign and symptoms: • • • • • • Awkward manner of walking, stepping, or running Frequent falls Fatigue Difficulty with motor skills (running, hopping, jumping) Muscle contractures of achilles tendon and hamstrings impair functionality Progressive difficulty walking
  7. 7. • • • • • Muscle fiber deformities Pseudohypertrophy (enlarging) of tongue and calf muscles Higher risk of neurobehavioral disorders (e.g., ADHD), learning disorders (dyslexia), and nonprogressive 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 (including scoliosis in some cases)
  8. 8. Diagnosis: DNA test Muscle biopsy Prenatal tests
  9. 9. Treatment: No treatment for the disease. Controlling the onset of symptoms to maximize the quality of life is possible: Corticosteroids such as prednisolone and deflazacort Mild, non-jarring physical activity Physical therapy Orthopedic appliances 

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