Limb-girdle muscular dystrophy type 2A in Brazilian children
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.
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Academia Brasileira de Neurologia - ABNEURO
2015
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oai:scielo:S0004-282X20150012009932015-12-08Limb-girdle muscular dystrophy type 2A in Brazilian childrenAlbuquerque,Marco Antônio Veloso deAbath Neto,OsórioSilva,Francisco Marcos Alencar daZanoteli,EdmarReed,Umbertina Conti calpainopathy LGMD2A MRI dystrophy child 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.info:eu-repo/semantics/openAccessAcademia Brasileira de Neurologia - ABNEUROArquivos de Neuro-Psiquiatria v.73 n.12 20152015-12-01info:eu-repo/semantics/articletext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2015001200993en10.1590/0004-282X20150168 |
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Albuquerque,Marco Antônio Veloso de Abath Neto,Osório Silva,Francisco Marcos Alencar da Zanoteli,Edmar Reed,Umbertina Conti |
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Albuquerque,Marco Antônio Veloso de Abath Neto,Osório Silva,Francisco Marcos Alencar da Zanoteli,Edmar Reed,Umbertina Conti Limb-girdle muscular dystrophy type 2A in Brazilian children |
author_facet |
Albuquerque,Marco Antônio Veloso de Abath Neto,Osório Silva,Francisco Marcos Alencar da Zanoteli,Edmar Reed,Umbertina Conti |
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Albuquerque,Marco Antônio Veloso de |
title |
Limb-girdle muscular dystrophy type 2A in Brazilian children |
title_short |
Limb-girdle muscular dystrophy type 2A in Brazilian children |
title_full |
Limb-girdle muscular dystrophy type 2A in Brazilian children |
title_fullStr |
Limb-girdle muscular dystrophy type 2A in Brazilian children |
title_full_unstemmed |
Limb-girdle muscular dystrophy type 2A in Brazilian children |
title_sort |
limb-girdle muscular dystrophy type 2a in brazilian children |
description |
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. |
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Academia Brasileira de Neurologia - ABNEURO |
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2015 |
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http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2015001200993 |
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