He presented at age 6 years, with difficulty with walking and frequent falls, as well as difficulty standing from a seated position or lifting things. Also, he cannot keep up with peers when running. He has a half-brother (same mother) and uncles who presented same symptoms.
Symptoms / Signs
- Proximal weakness more pronounced in lower limbs associated with Gowers sign, calf hypertrophy, and scapular muscle atrophy.
- Idiomotor reflexes are absent, and sensory is normal.
- Plasma CK levels are slightly high, and the EMG was consistent with progressive muscular disease.
- Cardiac exam was normal.
- No current treament
- Physical therapy with Corticoids
Previously Considered Diagnoses
- Duchenne muscular dystrophy
Genetic Variants of Interest
- DMD gene testing
Siblings, age & gender
21 year old half-sister, half-brother who died
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A is a 12-year-old boy with a handsome smile. He overall seems very reserved. He loves playing soccer with his friends in the neighborhood and is managing to look like every boy of his age.