Paper Information

Journal:   GENETICS IN THE 3RD MILLENNIUM   WINTER 2016 , Volume 14 , Number 1; Page(s) 0 To 0.
 
Paper: 

CONGENITAL MUSCULAR DYSTROPHY: AN OVERVIEW

 
 
Author(s):  TONEKABONI SEYED HASSAN*
 
* PEDIATRIC NEUROLOGY RESEARCH CENTER , SBMU
 
Abstract: 

congenital muscular dystrophy (CMD) is an umbrella term collecting a heterogeneous groups of genetic disorders, mostly with Autosomal recessive mode of inheritance, and are characterized by muscle weakness since birth or in early infancy, with a dystrophic pattern on muscle biopsy. these children are usually hypotonic and may have joint contractures. The serum creatine kinase level can be elevated. The clinical course is usually static, but occasionally slow regression and sometimes a relative improvement can be noticed. A dozen number of genes are known to cause congenital muscular dystrophy and many individuals with CMD remain unclassified.
CMD can be subdivided based on the expression of the extracellular matrix protein, Laminin-alpha2 (Merosin) on muscle biopsy, into Merosin negative and positive. Some clinical features are crucial for making more accurate diagnosis such as distal laxity (common in collagen 6 disorders) and rigid spine (seen in Selenopathies).

 
Keyword(s): MUSCULAR DYSTROPHIES, AUTOSOMAL RECESSIVE, GENETIC DISORDER
 
References: 
  • ندارد
 
  Yearly Visit 111
 
Latest on Blog
Enter SID Blog