Marco Antônio Veloso de Albuquerque, Osório Abath Neto, Francisco Marcos Alencar da Silva, Edmar Zanoteli, Umbertina Conti Reed
Calpainopathy is an autosomal recessive limb girdle muscular dystrophy (LGMD2A) caused by mutations in the CAPN3 gene. Aim: To present clinical and histological findings in six children with a molecular diagnosis of LGMD2A and additionally MRI findings in two of them. Method: We retrospectively evaluated the medical records of 6 patients with mutation on CAPN3 gene. Results: All patients were female (three to 12 years old). The mean age of disease onset was 9 years. All showed progressive weakness with predominance in the lower limbs. Other findings were scapular wing, joint contractures and calf hypertrophy. One female had a more severe phenotype than her dizygotic twin sister which was confirmed by muscle MRI. Muscle biopsies showed a dystrophic pattern in all patients. Conclusions: In this cohort of children with LGMD2A, clinical aspects were similar to adults with the same disorder.