Arquivos de Neuro-Psiquiatria | |
Limb-girdle muscular dystrophy type 2A in Brazilian children | |
关键词: calpainopatia; LGMD2A; RNM; distrofia; criança; | |
DOI : 10.1590/0004-282X20150168 | |
来源: DOAJ |
【 摘 要 】
ABSTRACT Calpainopathy is an autosomal recessive limb girdle muscular dystrophy (LGMD2A) caused by mutations in CAPN3 gene.ObjectiveTo present clinical and histological findings in six children with a molecular diagnosis of LGMD2A and additionally the MRI findings in two of them.MethodWe retrospectively assessed medical records of 6 patients with mutation on CAPN3 gene.ResultsAll 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.ConclusionIn this cohort of children with LGMD2A, the clinical aspects were similar to adults with the same disorder.
【 授权许可】
Unknown