The phenotype of calpainopathy: diagnosis based on a multidisciplinary approach

• Autor(a) principal: Pollitt, C.
• Data de Publicação: 2001
• Outros Autores: Anderson, Louise V.B, Pogue, Robert Edward, Davison, K., Pyle, Angela, Bushby, Katherine M.D.
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Institucional da UCB
• Texto Completo: http://twingo.ucb.br:8080/jspui/handle/10869/612; https://repositorio.ucb.br:9443/jspui/handle/123456789/7874
• topic: Calpainopathy; Limb-girdle muscular dystrophy; Muscle biopsy

Calpainopathy (LGMD2A) is the most common type of autosomal recessive limb-girdle muscular dystrophy. We performed a systematic clinical evaluation in 13 calpainopathy patients from 11 families, with particular attention to the pattern of muscle involvement. Eleven patients had a muscle biopsy with de®ciency of calpain 3 on western blotting. The other two patients were not biopsied as they were siblings from the same families. Con®rmatory CAPN3 mutations were detected in seven patients. The age at presentation was 2±45 years, wider than previously reported. We con®rm the highly characteristic and recognisable phenotype of predominant muscular atrophy with early pelvic girdle involvement, relative sparing of the hip abductors, scapular winging and abdominal laxity. Early primary contractures were also a prominent feature in this group, expanding the breadth of the phenotype. Recognition of the clinical pattern of calpainopathy is of diagnosic signi®cance. It is important, especially in sporadic cases, in targeting and interpreting laboratory investigations in order to provide accurate diagnostic and prognostic information.