Limb-girdle muscular dystrophy type 2A in Brazilian children.

Abstract

UNLABELLED:

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.

• Authors: Marco Antônio Veloso de Albuquerque, Osório Abath Neto, Francisco Marcos Alencar da Silva, Edmar Zanoteli, Umbertina Conti Reed
• Journal: Arquivos de neuro-psiquiatria (Arq Neuropsiquiatr) Vol. 73 Issue 12 Pg. 993-7 (Dec 2015) ISSN: 1678-4227 [Electronic] Germany
• PMID: 26677118 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Topics

• Brazil
• Child
• Child, Preschool
• DNA Mutational Analysis
• Female
• Humans
• Muscular Dystrophies, Limb-Girdle (genetics, pathology)
• Mutation (genetics)
• Phenotype
• Retrospective Studies