Ullrich congenital muscular dystrophy and bethlem myopathy: clinical and genetic heterogeneity

Arquivos de Neuro-Psiquiatria

Umbertina Conti Reed¹  Lucio Gobbo Ferreira¹  Enna Cristina Liu¹  Maria Bernadete Dutra Resende¹  Mary Souza Carvalho¹  Suely Kazue Marie¹  Milberto Scaff¹ 

[1] ,Universidade de São Paulo Faculdade de Medicina Departamento de NeurologiaSão Paulo,Brasil

关键词: Ullrich congenital muscular dystrophy;    congenital muscular dystrophy;    joint hyperlaxity;    collagen VI;    Bethlem myopathy;    distrofia muscular congênita;    hiperextensibilidade articular;    colágeno VI;    fenótipo Ullrich;    miopatia de Bethlem;   

DOI  :  10.1590/S0004-282X2005000500013

来源: SciELO

【 摘 要 】

Ullrich congenital muscular dystrophy (UCMD), due to mutations in the collagen VI genes, is an autosomal recessive form of CMD, commonly associated with distal joints hyperlaxity and severe course. A mild or moderate involvement can be occasionally observed. OBJECTIVE: To evaluate the clinical picture of CMD patients with Ullrich phenotype who presented decreased or absent collagen VI immunoreactivity on muscular biopsy. RESULTS: Among 60 patients with CMD, two had no expression of collagen V and their clinical involvement was essentially different: the first (3 years of follow-up) has mild motor difficulty ; the second (8 years of follow-up) never acquired walking and depends on ventilatory support. A molecular study, performed by Pan et al. at the Thomas Jefferson University, demonstrated in the first a known mutation of Bethlem myopathy in COL6A1 and in the second the first dominantly acting mutation in UCMD and the first in COL6A1, previously associated only to Bethlem myopathy, with benign course and dominant inheritance. CONCLUSION: Bethlem myopathy should be considered in the differential diagnosis of UCMD, even in patients without fingers contractures; overlap between Ullrich and Bethlem phenotypes can be supposed.

【 授权许可】

CC BY   
 All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License