Disclosures: Britney Papp, DO: Nothing to disclose

Case Description: The patient presented with significant myalgias in his bilateral arms, from shoulders down to his wrists and he could not obtain full elbow extension. Patients bilateral lower extremities had full strength and were pain free at presentation. Patient was a hockey player; however, he had not been in practice for approximately 3 weeks prior to presentations due to a hand injury requiring casting. Cast was removed and over the next 3 days patient participated in workouts where he had "normal soreness" after each workout. Initial creatinine kinase (CK) was 10, 851 and over the initial 24 hours of admission continued to rise to 68,920 despite aggressive intravenous and oral hydration. Patient did develop myoglobinuria with 2+ blood without red blood cells in his urinalysis. Patient’s mother had history of 3 prior episodes of rhabdomyolysis associated with weightlifting, patient’s father regularly competes in triathlons and the Ironman competition and has never had rhabdomyolysis.

Setting: Tertiary care hospital.

Patient: A 17-year-old boy with no significant past medical history.

Assessment/Results: Genetic testing revealed the patient was heterozygous for AMPD1 and ACADS gene mutations and the mother was heterozygous an ACADS gene mutation. Patient subsequently had an additional incidence of rhabdomyolysis within 4 months of initial presentation.

Discussion: The AMPD1 gene has been associated with autosomal recessive myoadenylate deaminase deficiency which has been seen in patients with metabolic myopathies, however the patient only has only one mutated copy of this gene. The acyl-CoA dehydrogenases, ACADS gene encodes a group of enzymes which function within mitochondria and are essential for fatty acid oxidation with mutations leading to reports of hypotonia, hypoglycemia and weakness.

Conclusion: The significance of the heterozygous mutations in AMPD1 and ACADS is unclear and will require further investigation but may represent an exercise induced myopathy inherited maternally as demonstrated by severe recurrent rhabdomyolysis.

Level of Evidence: Level V

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PM&R Meeting Abstracts - https://pmrjabstracts.org/abstract/a-case-of-nontraumatic-exercise-induced-rhabdomyolysis-in-a-17-year-old-boy-with-heterozygous-mutations-in-the-ampd1-acads-genes/