Duschenne’s Muscular Dystrophy
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Transcript of Duschenne’s Muscular Dystrophy
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Duschenne Muscular Duschenne Muscular DystrophyDystrophy recessive X-linked form of muscular dystrophy
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History: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)
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Cause: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.
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Effect:Effect:The lack of dystrophin leads to
muscle fibre damage and a gradual weakening of the muscles.
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Inheritance:Inheritance:
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Sign and symptoms: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
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• Muscle fiber deformities• Pseudohypertrophy (enlarging) of tongue
and calf muscles• Higher risk of neurobehavioral disorders
(e.g., ADHD), learning disorders (dyslexia), and non-progressive 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)
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Diagnosis:Diagnosis:DNA testMuscle biopsyPrenatal tests
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Treatment: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 activityPhysical therapyOrthopedic appliances
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