Muscular Dystrophy: The Daily PANCE Blueprint
A 7-year-old boy is brought to the pediatrician by his parents, who are concerned about his difficulty running and climbing stairs, which has progressively worsened over the past year. On examination, the pediatrician notes calf muscle hypertrophy and a positive Gowers' sign. Which type of muscular dystrophy is most likely in this patient?
A. Duchenne Muscular Dystrophy (DMD)
B. Becker Muscular Dystrophy (BMD)
C. Myotonic Dystrophy
D. Facioscapulohumeral Muscular Dystrophy (FSHD)
E. Limb-Girdle Muscular Dystrophy (LGMD)
Answer and topic summary
The answer is A. Duchenne Muscular Dystrophy (DMD)
Duchenne Muscular Dystrophy (DMD) is the most common form of muscular dystrophy in children and is characterized by rapid progression of muscle weakness, typically becoming noticeable in early childhood. It is an X-linked recessive disorder caused by mutations in the dystrophin gene, leading to the absence of the dystrophin protein, which helps stabilize muscle cell membranes. Clinical features include difficulty with running and climbing stairs, calf pseudohypertrophy, and a positive Gowers’ sign, which indicates weakness of the proximal muscles, necessitating the use of hands to rise from the floor. The patient’s age, symptoms, and examination findings are classic for DMD.
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