Decreased lower-leg lean mass by DXA in Duchenne disease carriers: A pilot study.

SARAVÍ FERNANDO; MAMPEL, ALEJANDRA; MARZESE, DIEGO; ROQUÉ, MARÍA; ECHEVERRÍA, M. INÉS

Mendoza

Congreso; XXVI Reunión Científica Anual de la Sociedad de Biología de Cuyo y I Reunión de la Dirección de Investigación, Ciencia y Técnica del Ministerio de Salud, Gobierno de Mendoza.; 2008

Sociedad de Biología de Cuyo

Duchenne/Becker muscular dystrophy (DMD) is caused by mutations in the dystrophin gene at Xp21 and therefore affects males. In these males, a lower bone mineral content and lean mass, and a higher fat mass, have been found by several methods, including dual X-ray absorptiometry (DXA). Women are carriers, yet in them subtle biochemical and structural alterations (e.g., elevation of serum creatine phosphokinase and a degree of gastrocnemius pseudohypertrophy) have been found. We assessed whether DXA may be used for screening women with  suspected DMD carrier status.  Whole body DXA scans (GE Lunar Prodigy) were performed in five known carriers and five healthy women paired by age. Two carriers had 2 affected sons each. The other 3 had 1 affected son each, and carrier status confirmed by Multiplex Ligation Probe Amplification. Values are mean (SEM).A p > 0.05 was deemed significant. In this small sample, no significant difference was found in height, body mass, total bone mineral density, total lean mass or fat mass. Total bone mineral content fell just short of significance (p = 0.058). An analysis focused on the lower legs showed the same trend for bone mineral content (p = 0.067) but in addition, in this body region fat-free soft tissue mass, known to correlate with muscle mass, was lower in carriers than in controls; respectively 2885 (150) g vs. 3456 (170) g, p = 0.036. These results warrant further exploration of lower leg DXA analysis as a screening tool for DMD carrier status.