Abstract: Rationale: Weight loss, in a young person without patology, is usually associated with anorexia nervosa. If this person has an elevated creatine phosphokinase (CPK) we could think in a congenital metabolic disease. If we put together, sarcopenia with elevated CPK, we must review the diagnosis of myopathy.
Methods: We describe the case of a 43-year-old male admitted for rhabdomyolysis, tachycardia and severe malnutrition. Personal history: Elbow fracture 3 years ago, and since then, progressive weight loss and severe caquexia with waste muscular weakness. Basal hormonal study was normal. Weight at admission was 43 kg (BMI 16), laboratory tests shown malnutrition parameters in severe range and CPK: 1432 U/L ( N< 246 U/L). Cardiac investigations reveal an arrythmia. Muscle atrophy did not improve despite intensive nutritional treatment. Finally we decide to do a muscular biopsy that reveal no inflammation or other objective findings.
Results: At least, after many medical test, we decide request the genetic study of myopathies that shown several mutations (SYNE, TTN, DLL1 AND RYR1 (central core disease) genes), any of them, not previously reported.
Conclusion: Our patient is more like the phenotype of SYNE gene mutation: Emery- Dreifuss´muscular dystrophy. We would like to emphasize the importance of an exhaustive metabolic study in those patients who do not meet the criteria of the usual clinical syndromes.
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