Diagnosis difficulties in a case of LGMD 2A

Introduction: LGMD 2A is the most prevalent form in limb muscular dystrophies. Is caused by mutations in the calpain-3 gene (CAPN-3), is characterized by progressive weakness of the pelvic and shoulder girdle and currently is diagnosed through the immunodetection of muscle protein by Western blot (WB) analysis and CAPN3 gene mutation analysis. Material and methods: We reported a 14-year-old boy for which the exploration of the panel particularities and the preclinical tests revealed a delay of several years in the diagnosis. The age at presentation was 6 and the suspicion of a muscular dystrophy was high, taking in consideration the moderate pattern of muscle involvement: early primary contractures, moderate hiperlordozia and a high serum CK concentrations. Although muscle weakness was not evident, diagnosis was based on muscle biopsy studies, elevated serum creatine-kinase levels, electromyography, CT scan, WB and molecular analysis. Results: A histological study of a biopsied specimen showed an atypical features: discreet fiber size variability and a infiltrate of vast size. The imunohistochomically exam did not reveal any deficit in membrane proteins: 1, 2 and 3 dystrophy, alpha, beta or gamma sarcoglucons. Conclusion: Correct diagnosis is crucial for management disease treatment and surveillance of manifestations (physical therapy and stretching exercises to promote mobility and prevent contractures, surgery for foot deformities, scoliosis, and Achilles tendon contractures as needed; respiratory aids to treat chronic respiratory insufficiency in late stages of the disease) and the identification of CAPN3 gene mutations is an important tool for a judicious genetic advise and for determining a possible correlation between genotype and phenotype.