Muscle ultrasound measurements and functional muscle parameters in non-dystrophic myotonias suggest structural muscle changes

Neuromuscul Disord. 2009 Jul;19(7):462-7. doi: 10.1016/j.nmd.2009.06.369. Epub 2009 Jun 21.

Abstract

Patients with non-dystrophic myotonias, including chloride (myotonia congenita) and sodium channelopathies (paramyotonia congenita/potassium aggravated myotonias), may show muscular hypertrophy in combination with some histopathological abnormalities. However, the extent of muscle changes has never been assessed objectively in a large group genetically confirmed patients. This study quantitatively determines echo intensities, thicknesses, ranges-of-motion and force of four skeletal muscles in 63 genetically confirmed patients. The main findings revealed elevated echo intensities in all muscles except the rectus femoris (+1.3-2.2SD, p<0.0001), and hypertrophy in the arms (+0.5-0.9SD, p<0.01). Muscle echo intensities were inversely correlated to the corresponding ranges-of-motion (biceps brachii: r= -0.43; p<0.001, forearm flexors: r= -0.47; p<0.001, rectus femoris: r= -0.40; p=0.001, and tibial anterior: r= -0.27; p=0.04) and correlated positively to age (r=0.22; p=0.05). The echo intensity of the forearm flexors was inversely correlated to their muscles' force (r= -0.30; p=0.02). Together, these data suggest that non-dystrophic myotonias may lead to structural muscle changes.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Arm / diagnostic imaging
  • Arm / pathology
  • Arm / physiopathology
  • Channelopathies / diagnostic imaging
  • Channelopathies / pathology
  • Channelopathies / physiopathology
  • Cohort Studies
  • Disease Progression
  • Female
  • Humans
  • Leg / diagnostic imaging
  • Leg / pathology
  • Leg / physiopathology
  • Male
  • Middle Aged
  • Muscle Contraction / physiology
  • Muscle Fibers, Skeletal / diagnostic imaging*
  • Muscle Fibers, Skeletal / pathology*
  • Muscle Strength / physiology
  • Muscle Weakness / diagnosis
  • Muscle Weakness / etiology
  • Muscle Weakness / physiopathology
  • Muscle, Skeletal / diagnostic imaging*
  • Muscle, Skeletal / pathology*
  • Muscle, Skeletal / physiopathology
  • Myotonic Disorders / diagnostic imaging*
  • Myotonic Disorders / pathology*
  • Myotonic Disorders / physiopathology
  • Predictive Value of Tests
  • Prognosis
  • Sensitivity and Specificity
  • Severity of Illness Index
  • Ultrasonography / methods
  • Young Adult