Frequency of reported pain in adult males with muscular dystrophy.

Introduction: The purpose of this study was to present and compare pain between adult males with Duchenne (DMD), Becker's (BMD), Limb-Girdle (LGMD) Facioscapulohumeral (FSHD) forms of Muscular Dystrophy (MD), and healthy controls (CTRL), using three different methods of assessment.

Methods: Pain was assessed using 1) a whole body visual analogue scale (VAS) of pain, 2) a generalised body map and 3) a localised body map.

Results: All types of MD reported more VAS pain than CTRL, with 97% of all MD participants reporting pain; however, no differences were reported between types of MD.

ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy.

Calcium (Ca ) is a physiological key factor, and the precise modulation of free cytosolic Ca levels regulates multiple cellular functions. Store-operated Ca entry (SOCE) is a major mechanism controlling Ca homeostasis, and is mediated by the concerted activity of the Ca sensor STIM1 and the Ca channel ORAI1. Dominant gain-of-function mutations in STIM1 or ORAI1 cause tubular aggregate myopathy (TAM) or Stormorken syndrome, whereas recessive loss-of-function mutations are associated with immunodeficiency.