Moderately progressive Ullrich congenital muscular dystrophy

Abstract

Objectives: To describe genetic and clinical features of Ullrich congenital muscular dystrophy (UCMD), and to report the case of a patient diagnosed with UCMD after an exhaustive investigation, which included collagen VI immunohistochemical and genomic analyses. Description:This study was based on clinical, immunohistochemical assessment of muscle tissue and genomic analysis of dermal fibroblasts of a 7 1/2-year old boy and of the DNA of his parents. Clinical aspects and differential diagnosis with other disorders are discussed. Comments:A better knowledge of congenital muscular dystrophies will improve the number of correct diagnoses and open new horizons for the treatment of such diseases. Genetic evaluation of UCMD patients has relevant implications for prognosis and genetic counseling of the family. The dissemination of this disorder in the pediatric community is advisable, because of the early onset of clinical manifestations and the fact that it is frequently misdiagnosed or not diagnosed at all. (Rio J). 2012;88(1):93-6: Ullrich congenital muscular dystrophy, congenital muscular dystrophy, joint hyperlaxity, collagen VI. J Pediatr ResumoObjetivos: Descrever características clínicas e genéticas da distrofia muscular congênita de Ullrich (DMCU), e relatar o caso de um paciente diagnosticado com DMCU após uma exaustiva investigação, que incluiu análise imuno-histoquímica e genômica do colágeno tipo VI.Descrição: Este estudo baseou-se na avaliação clínica e imunohistoquímica do tecido muscular e na análise genômica dos fibroblastos dérmicos de um menino de 7 anos e meio, e do DNA dos seus pais. São discutidos aspectos clínicos e o diagnóstico diferencial com outras doenças.Comentários: O melhor conhecimento das distrofias musculares congênitas aumentará o número de diagnósticos corretos e abrirá novos horizontes para o tratamento dessas doenças. A avaliação genética dos pacientes com DMCU tem implicações relevantes para o prognóstico e o aconselhamento genético da família. É aconselhável divulgar essa doença na comunidade pediátrica, devido ao início precoce das manifestações clínicas e o fato de ser frequentemente mal diagnosticada ou não ser diagnosticada.J Pediatr (Rio J). 2012;88(1):93-6: Distrofia muscular congênita de Ullrich, distrofia congênita muscular, hiperfrouxidão articular, colágeno tipo VI.

Genetic and functional differences between Bethlem miopathyand Ullrich congenital muscular dystrophy – case studies

“…The symptoms are presented as a severe form, in this case, the symptoms are from birth through early childhood, leading the patient to lose his independent gait.in adolescence, dying as a result of respiratory failure (ZAMURS et al, 2015;PALMA et al, 2014;YONEKAWA;NISHINO, 2015;CARAKUSHANSKY;RIBEIRO;KAHN, 2012).…”

Unexpected partial RNA deletion by two different novel COL6A2 mutations leads to Ullrich congenital muscular dystrophy

“…Keywords: COL6A2; Ullrich congenital muscular dystrophy (UCMD); compound heterozygous mutations; whole exome sequencing; sanger sequencing; Congenital muscular dystrophies (CMDs) are a group of rare genetic diseases that primarily affect the muscle and are characterized by progressive degeneration and weakness (Kirschner, 2013). Clinical symptoms typically manifest at birth or within the first few months of life (Carakushansky et al, 2012). Ullrich congenital muscular dystrophy (UCMD) is a rare type of autosomal dominant or recessive CMDs, mainly caused by mutations in the related genes leading to loss of collagen VI with an earlier onset time and progressive clinical symptoms (Kirschner, 2013;Park et al, 2014).…”