Limb-girdle muscular dystrophy type 2A in Brazilian children

Arquivos de Neuro-Psiquiatria

Marco Antônio Veloso De Albuquerque¹  Osório Abath Neto¹  Francisco Marcos Alencar Da Silva¹  Edmar Zanoteli¹  Umbertina Conti Reed¹ 

关键词: calpainopathy;    LGMD2A;    MRI;    dystrophy;    child;    calpainopatia;    LGMD2A;    RNM;    distrofia;    criança;   

DOI  :  10.1590/0004-282X20150168

来源: SciELO

【 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】

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