He presented at around age 14 years with frequent falls when walking and difficulty with running, which led him to stop playing sports. Over time it become increasingly difficult for him to stand from a seated position and later to lift objects. He has noticed episodes of rapid heart beat and nervousness. These findings slowly progressed over time, forcing him to drop out of university because he could not walk up the hill where the school was located.
Symptoms / Signs
- Asymmetric proximal (pelvic/scapular) muscle weakness, proximal and limb muscle atrophy, scapular winging.
- Reduced reflexes, toe walking, positive Gower sign.
- Plasma CK levels were high, and the EMG showed a myopathic pattern.
- No current treatment
- Traditional healer
- Physical therapy
Previously Considered Diagnoses
- Becker muscular dystrophy
Genetic Variants of Interest
- DMD gene testing
Siblings, age & gender
47 year old sister, 42 year old sister), 36 year old sister, 34 year old brother
If this participant sounds like you or someone you know, please contact Wilhelm Foundation at firstname.lastname@example.org
B is a 28 year old man who works as a mobile banking employee. His dream was to be a in the military, like his father and some of his brothers. He dropped out at university level but has not given up and has hopes for a better future.