At age 18 months, parents noticed that he fell frequently when walking. Later, he had difficulty standing up, and recently also lifting heavy objects.
Walking has become progressively difficult, and now he can no longer get up on his own. Developmentally he is completely normal, without intellectual disability (he is in an accounting university), and no concerns for hearing, vision, and language. He has a younger brother with similar signs and symptoms.
Symptoms / Signs
- On physical exam he has proximal muscle weakness in all four limbs, with scapular winging, proximal and limb muscle atrophy, absent deep tendon reflexes
- He also has mild scoliosis.
- There is no sensory loss.
- Plasma CK levels were normal, however the EMG showed a pattern consistent with progressive proximal muscular disease.
- Physical therapy.
- Physical therapy with Corticoids
Previously Considered Diagnoses
- Limb-Girdle-Muscle Dystrophy or Becker muscular dystrophy
Genetic Variants of Interest
- WES. DMD gene testing
Siblings, age & gender
If this participant sounds like you or someone you know, please contact Wilhelm Foundation at firstname.lastname@example.org
M is a 19-year-old university student. He is very smart, and has always been among the bests in his class. He is determined to have a normal lifestyle despite his condition. Mahamadou likes music, videogames, and fashion dressing.