McArdle disease phenotype description enriched with muscle imaging data

24 December 2021

Fifteen adults aged 25 to 80 with McArdle myopathy, a metabolic neuromuscular disease caused by myophosphorylase deficiency, underwent muscle imaging examinations at the Garches Reference Centre. The whole-body muscle MRI from which they benefited made it possible to analyze 60 muscles in particular and to specify the phenotype: 

  • 13 of the 15 patients presented signs in favor of a persistent muscle deficit (half in the neck flexors and the other in the proximal root muscles), 
  • certain muscles such as the subscapularis, the serratus anterior, the rectus femoris and the erector muscles of the spine were preferentially affected.

These new elements can also constitute a diagnostic aid.

 

Whole-body muscle MRI in McArdle disease. Tobaly D, LaforĂȘt P, Stojkovic T, Behin A, Petit FM, Barp A, Bello L, Carlier P, Carlier RY. Neuromuscul Disord. 2021 Aug 5:S0960-8966(21)00584-8.