Clinical Reasoning: A 14-year-old boy with fatigue and episodic worsening of weakness

A 14-year-old right-handed boy was evaluated for fluctuating weakness and fatigue. He had normal motor milestones. At age 3 years, it was first noticed that he was not able to keep up with other children and had difficulty running. When he was 9 years old, his symptoms progressed, with easy fatigability and frequent falls. One of the striking features of his weakness was day to day variability. Some days he would be able to perform most of his daily activities and some days he could barely walk. In addition, he had episodes of severe weakness following febrile or viral illness, where he would become wheelchair-dependent lasting for days to weeks. He had shortness of breath with fatigability and intermittent wheezing, which was initially diagnosed as asthma but conventional asthma therapy did not help. Eventually, ear, nose, and throat evaluation determined that he had stridor. He denied diplopia, difficulty swallowing, or sensory symptoms.

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