Limb-girdle muscular dystrophy type 2A in Brazilian children

• Autor(es): Albuquerque,Marco Antônio Veloso de ; Abath Neto,Osório ; Silva,Francisco Marcos Alencar da ; Zanoteli,Edmar ; Reed,Umbertina Conti
• Data: 2015
• Origem: Oasisbr
• Assunto(s): calpainopathy; LGMD2A; MRI; dystrophy; child
• Tipo de Documento: Artigo científico
• Idioma: Inglês

Descrição

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.