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Patient: Female, 44 Final Diagnosis: McArdle disease Symptoms: Exercise intolerance • muscle contracture • myalgia • myoglobinuria • recurrent rhabdomyolysis Medication: — Clinical Procedure: — Specialty: Neurology Objective: Rare disease Background: McArdle disease is a glycogen storage disorder mainly characterized by exercise intolerance. Prolonged muscle contracture is also a feature of this condition and may lead to rhabdomyolysis (RM), which is a serious event characterized by acute skeletal muscle damage. Case Report: A 44-year-old female patient presented with an acute contracture of the posterior neck muscles, causing severe nuchal rigidity. The contracture was induced during a dental extraction as she held her mouth open for a prolonged period, with her neck in a rigid position. She presented with severe pain in her ear and head, as well as fever, vomiting, and confusion. Based on her symptoms, she was initially misdiagnosed with bacterial meningitis and experienced an acute allergic reaction to the systemic penicillin she was subsequently administered. Lumbar puncture results were normal. High serum creatine kinase (CK) levels, recurrent exercise-related muscle symptoms, and a previous history of recurrent myoglobinuria raised the suspicion of an underlying neuromuscular condition. McArdle disease was confirmed by muscle biopsy and a genetic test, which revealed that the patient was homozygous for the R50X mutation in the PYGM gene. Conclusions: This case illustrates that even seemingly innocuous movements, if rapid isotonic or prolonged isometric in nature, can elicit a muscle contracture in McArdle disease patients. Here, we highlight the need for careful management in this patient population even during routine healthcare procedures. The allergic reaction to antibiotics emphasises that misdiagnoses may result in iatrogenic harm.

Multiday ultra-endurance races present athletes with a significant number of physiological and psychological challenges. We examined emotions, the perceived functionality (optimal-dysfunctional) of emotions, strategies to regulate emotions, sleep quality, and energy intake-expenditure in a four-man team participating in the Race Across AMerica (RAAM); a 4856km continuous cycle race. Cyclists reported experiencing an optimal emotional state for less than 50% of total competition, with emotional states differing significantly between each cyclist over time. Coupled with this emotional disturbance, each cyclist experienced progressively worsening sleep deprivation and daily negative energy balances throughout the RAAM. Cyclists managed less than one hour of continuous sleep per sleep episode, high sleep latency and high percentage moving time. Of note, actual sleep and sleep efficiency were better maintained during longer rest periods, highlighting the importance of a race strategy that seeks to optimise the balance between average cycling velocity and sleep time. Our data suggests that future RAAM cyclists and crew should: 1) identify beliefs on the perceived functionality of emotions in relation to best (functional-optimal) and worst (dysfunctional) performance as the starting point to intervention work; 2) create a plan for support sufficient sleep and recovery; 3) create nutritional strategies that maintain energy intake and thus reduce energy deficits; and 4) prepare for the deleterious effects of sleep deprivation so that they are able to appropriately respond to unexpected stressors and foster functional working interpersonal relationships. Key PointsCompleting the Race Across AMerica (RAAM); a 4856km continuous cycle race associated with sleep disturbance, an energy-deficient state, and experiencing intense unwanted emotions.Cyclists reported experiencing an optimal emotional state for less than 50% of total competition and actual sleep and sleep efficiency was better maintained during longer rest periods.We suggest that future RAAM cyclists and crew should:Identify individual beliefs on the perceived functionality of emotional states in relation to best (optimal) and worst (dysfunctional) performance as the starting point to identifying if emotion regulation strategies should be initiated.Plan for enhanced sleep and recovery not just plan and train for maintaining a high average velocity;Create nutritional strategies that maintain energy intake and thus reduce energy deficits;Psychologically prepare cyclists and crew for the deleterious effects of sleep deprivation so that they both are able to appropriately respond to unexpected stressors and foster functional interpersonal working relationships.