Hereditary neuromuscular diseases

Eur J Radiol. 2001 Dec;40(3):184-97. doi: 10.1016/s0720-048x(01)00399-0.

Abstract

This article presents the actual classification of neuromuscular diseases based on present expansion of our knowledge and understanding due to genetic developments. It summarizes the genetic and clinical presentations of each disorder together with CT findings, which we studied in a large group of patients with neuromuscular diseases. The muscular dystrophies as the largest and most common group of hereditary muscle diseases will be highlighted by giving detailed information about the role of CT and MRI in the differential diagnosis. The radiological features of neuromuscular diseases are atrophy, hypertrophy, pseudohypertrophy and fatty infiltration of muscles on a selective basis. Although the patterns and distribution of involvement are characteristic in some of the diseases, the definition of the type of disease based on CT scan only is not always possible.

Publication types

  • Review

MeSH terms

  • Charcot-Marie-Tooth Disease / diagnosis
  • Creatine Kinase / blood
  • Humans
  • Muscular Atrophy, Spinal / diagnosis
  • Muscular Atrophy, Spinal / genetics
  • Muscular Diseases / congenital
  • Muscular Diseases / immunology
  • Muscular Diseases / metabolism
  • Muscular Dystrophies / congenital
  • Muscular Dystrophies / diagnosis*
  • Muscular Dystrophies / genetics
  • Muscular Dystrophies / pathology
  • Myotonic Disorders / diagnosis*
  • Neuromuscular Diseases / classification
  • Neuromuscular Diseases / diagnosis*
  • Neuromuscular Diseases / genetics
  • Tomography, X-Ray Computed

Substances

  • Creatine Kinase