ABSTRACT
Calpainopathy is an autosomal recessive limb girdle muscular dystrophy (LGMD2A) caused by mutations in CAPN3 gene.
Objective
To present clinical and histological findings in six children with a molecular diagnosis of LGMD2A and additionally the MRI findings in two of them.
Method
We retrospectively assessed medical records of 6 patients with mutation on CAPN3 gene.
Results
All patients were female (three to 12 years). The mean of age of disease onset was 9 years. All of them showed progressive weakness with predominance in lower limbs. Other findings were scapular winging, joint contractures and calf hypertrophy. One female had a more severe phenotype than her dizygotic twin sister that was confirmed by muscle MRI. Muscle biopsies showed a dystrophic pattern in all patients.
Conclusion
In this cohort of children with LGMD2A, the clinical aspects were similar to adults with the same disorder.
calpainopathy; LGMD2A; MRI; dystrophy; child
