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.

Phenotypic Variability of Dystrophinopathy Symptomatic Female Carriers

“…8 The prevalence of symptomatic female carriers was similar to the prevalence of the most common limb-girdle muscular dystrophies, such as fukutin-related proteinopathy (LGMD2I) with 0.43 per 100,000 inhabitants and calpainopathy (LGMD2A) with 0.60 per 100,000 inhabitants. [8][9][10] Symptomatic female dystrophin carriers may present asymmetric lower limb muscular weakness that may be slight or as severe as rapidly progressive Duchenne-like muscular dystrophy. 3 Patient 6 presented with a late-onset muscular weakness that was noticed after dyslipidemia treatment and the hypotheses of statin-induced myopathy had been raised.…”

Diagnosis of limb-girdle muscular dystrophies in the molecular biology era: do clinical findings still matter?

“…Next-generation genetic testing is currently available in only a few centers and is still in the validation phase 6 . This edition of Arquivos de Neuropsiquiatria includes a paper by Albuquerque et al reporting six cases of LGMD2A in children 7 . One of the children had calf hypertrophy, but in view of the mutation found in the patient and her sister, this sign can be considered a clinical variant.…”

Análise molecular dos genes CAPN3 e FKRP em pacientes com distrofia muscular tipo cinturas

“…A taxa de ocorrência no Brasil coincide com a da LGMD2B causada por deficiência na disferlina . Estudo realizado no nosso serviço mostrou que a forma LGMD2A corresponde a 15% das LGMD de início na infância (Albuquerque et al, 2015).…”

“…Os músculos primariamente envolvidos são os glúteos e os adutores dos quadris e uma característica comum é a escápula alada (Kramerova et al, 2007;Albuquerque et al, 2015). São características comuns desse tipo de distrofia:…”

“…Do ponto de vista histológico, o achado caracteristicamente associado a deficiência de CAPN3 é a presença de fibras com aspecto lobulado nas reações oxidativas (Ono et al, 1998;Chae et al, 2001;Albuquerque et al, 2015). No nosso estudo, das sete biópsias disponíveis, em cinco havia fibras lobuladas em proporções variadas.…”