DUCHENNE MUSCULAR DYSTROPHY
Muscular dystrophies are a group of genetic muscle diseases characterized by progressive myofiber degeneration and the gradual replacement of muscle by fibrotic tissue.
Duchenne muscular dystrophy is the most common muscular dystrophy and one of the most common genetic disorders of childhood.
- Duchenne muscular dystrophy is an X-linked disorder (Xp21) that arises from a mutation in the dystrophin gene.
- Soil in farming activities due use of chemical pesticides, chemical fertilizer
- Genetic susceptibility
- Frequent falls
- Difficulty rising from a lying or sitting position
- Trouble running and jumping
- Waddling gait
- Walking on the toes
- Large calf muscles
- Muscle pain and stiffness
- Learning disabilities
- Delayed growth
- Hypotonia and Weakness
- At about 2-3 years of age, boys develop an awkward gait and an inability to run properly.
- Some have an antecedent history of mild delay in attaining motor milestones or of poor head control during infancy.
- The child typically arises from a lying position on the floor by using his arms to climb up his legs and body (Gower sign).
- Arm weakness is evident by age 6 years.
- Most boys are wheelchair dependent by age 12 years.
- Respiratory decline
- Cognitive and behavioral dysfunction.
Laboratory and Diagnostic Studies
- Serum CK levels are always markedly elevated.
- Genetic testing for the dystrophin gene mutation.
- Muscle biopsy