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Limb-girdle muscular dystrophy type 2A in Brazilian children
Marco Antônio Veloso de Albuquerque1, Osório Abath Neto1, Francisco Marcos Alencar da Silva1
1Departamento de Neurologia, Universidade de São Paulo, Sao Paulo, SP, Brazil.
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.
Insights
Limb girdle muscular dystrophy type 2A (LGMD2A) in children presents similarly to adults, with progressive leg weakness and muscle biopsy findings. This study details clinical, histological, and MRI findings in six pediatric patients with CAPN3 gene mutations.
Area of Science:
- Genetics
- Neurology
- Pathology
Background:
- Calpainopathy, or limb girdle muscular dystrophy type 2A (LGMD2A), is an autosomal recessive neuromuscular disorder.
- It results from mutations in the CAPN3 gene, affecting muscle function.
Purpose of the Study:
- To describe the clinical, histological, and MRI findings in a cohort of six children diagnosed with LGMD2A.
- To compare the pediatric presentation of LGMD2A with that observed in adult patients.
Main Methods:
- Retrospective analysis of medical records from six pediatric patients with confirmed CAPN3 gene mutations.
- Inclusion of muscle biopsy and MRI data for detailed phenotyping.
Main Results:
- All six patients were female, aged 3-12 years, with disease onset around age 9.
- Common symptoms included progressive lower limb weakness, scapular winging, joint contractures, and calf hypertrophy.
- Muscle biopsies revealed a dystrophic pattern in all cases; MRI confirmed phenotypic variability, even in twins.
Conclusions:
- Pediatric LGMD2A shares clinical features with the adult form of the disorder.
- The study highlights the importance of genetic diagnosis and comprehensive phenotyping, including imaging, in managing childhood muscular dystrophies.
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