[Collagen VI related myopathies. When to suspect, how to identify. The contribution of muscle magnetic resonance]

Rev Chil Pediatr. 2018 Jun;89(3):399-408. doi: 10.4067/S0370-41062018005000305.
[Article in Spanish]

Abstract

Myopathies secondary to collagen VI mutations (COLVI-M) are the most frequent in the northern hemisphere, affecting the adult and pediatric population. There are no data on its prevalence in Latin America. They are characterized by a great clinical variability, from severe phenotypes, such as Ullrich congenital muscular dystrophy (UCMD), to intermediate and mild ones such as Bethlem myopathy (BM). Its onset is also variable and extends from the neonatal period to adulthood. Given the presence of joint hypermobility, the differential diagnosis should be made with various connective tissue diseases. The classical diagnostic algorithm in many patients has been insufficient to guide the genetic study in an adequate way, and from this the muscular magnetic resonance imaging has emerged as a very useful tool for a better diagnostic approach of this and other muscular pathologies. This ob jective of this review is to study the forms of presentation, clinical characteristics, specific diagnostic study, differential diagnosis and management of one of the most frequent hereditary muscular patho logies, with emphasis on the contribution of muscle magnetic resonance imaging.

Publication types

  • Review

MeSH terms

  • Collagen Type VI / genetics*
  • Contracture / diagnosis*
  • Contracture / genetics
  • Contracture / therapy
  • Diagnosis, Differential
  • Genetic Markers
  • Genetic Testing
  • Humans
  • Magnetic Resonance Imaging
  • Muscular Dystrophies / congenital*
  • Muscular Dystrophies / diagnosis
  • Muscular Dystrophies / genetics
  • Muscular Dystrophies / therapy
  • Mutation
  • Physical Examination
  • Sclerosis / diagnosis*
  • Sclerosis / genetics
  • Sclerosis / therapy

Substances

  • Collagen Type VI
  • Genetic Markers

Supplementary concepts

  • Bethlem myopathy
  • Scleroatonic muscular dystrophy