The participant is a 34-year-old woman who developed episodic muscle weakness and pain beginning at age 9. Episodes are characterized by acute worsening of weakness, including paralysis, and last from hours to days. Triggers include physical exertion, fasting, illness, stress, and temperature extremes. Symptoms progressed significantly in early adulthood, leading … read more
At 3 months, the participant’s parents noticed that she was not yet rolling over. Around 4.5 months, she started vomiting every two or three days. Soon after, she was noticed to have frequent and unusual head movements. During these episodes, she would move her head from side to side and … 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
