Clinical Reasoning: An 18-Year-Old Woman With Episodic Stiffness, Exercise Intolerance, and Weakness: Decoding a Neuromuscular Mystery.
Erin Nuro, Ahmad R Almotairi, Meredith Curtis et al.
✦ AI-curated · Sources linked
Case in brief
An 18-year-old woman had longstanding episodic muscle stiffness, cold sensitivity, exercise intolerance, and stable proximal weakness. Examination showed facial weakness, eyelid and percussion myotonia, paramyotonia with repetitive gripping, and weakness involving the neck, arms, and hip girdle. EMG demonstrated diffuse myotonic discharges. Testing also found elevated medium- and long-chain acylcarnitines and intermittently elevated CK (78-1,105). The report describes integrating clinical, electrophysiologic, metabolic, tissue-pathology, and genomic findings to reach a unified diagnosis and treatment plan.
What made this case unusual
The diagnostic challenge was the coexistence of congenital weakness, episodic myotonia, and metabolic abnormalities, requiring integration of multiple data types to identify blended mechanistic etiologies.
Diagnostic / clinical pearl
When weakness and myotonia coexist with metabolic abnormalities, electrophysiologic, biochemical, tissue-pathology, and genomic findings may need to be interpreted together to resolve the diagnosis.