The participant was healthy and developing normally until age 3. At this time, his parents noticed that he was walking with a waddling gait. Since then, the participant has had difficulty climbing stairs, running, and getting up from a squatted position (Gowers sign). He also has an irregular heartbeat (arrhythmia) … read more
At age 2, the participant started to have frequent falls and difficulty getting up from the ground after falling. Her parents started to notice that her muscles would tighten and that she would walk with an abnormal gait (toe-walking). Although the participant said her first word at age 2, she … read more
When the participant was almost two years old, she became ill and experienced hallucinations (altered mental status), problems with coordination (ataxia), and crossed eyes (strabismus). She continued to have these episodes for about a year. When she was three years old, she was hospitalized during an episode and tests revealed … read more
