Clinical study of chronic pain in hereditary myopathies.

In the field of neuromuscular diseases, pain and its management remain imperfectly understood and described. We study 68 unselected, consecutive adult patients attending a multidisciplinary consultation for hereditary myopathy. Forty-six (67%) were suffering from chronic pain.

Evaluation of muscle glycogen content by 13C NMR spectroscopy in adult-onset acid maltase deficiency.

Muscle glycogen storage was measured by in vivo, natural abundance 13C nuclear magnetic resonance spectroscopy in distal and proximal lower limb segments of patients suffering from adult-onset acid maltase deficiency. Interleaved T1-weighted acquisitions of glycogen and creatine served to quantify glycogen excess. For acid maltase deficient patients (n=11), glycogen:creatine was higher than controls (n=12), (1.