Mendell, JR, Shilling, CJ, Leslie ND, Flanigan, KM, Al-Dahhak, R, Gastier-Foster, J, Kneile, K, Dunn, D, Duval, B, Alexander, A, Hamil, C, Mahmoud, M, Roush, K, Bird, L, Rankin, C, Lilly, H, Street, N, Chandrasekar, R and Weiss, RB.
This study demonstrated that patients with LGMD can be identified with newborn screening. The study evaluated <37,000 newborn males with the intention of identifying boys with DMD at birth. A two-tiered system was used by first testing for elevated creatine kinase (CK) levels on dried blood spots. Subjects with CK elevation of >2000 U/l were sent for DNA testing. In ~65% of the cases, DMD mutations were identified. In the remaining subjects, mutations were identified for 3 LGMD subtypes (LGMD2E, LGMD2B, and LGMD2i). This study demonstrated that this method of newborn screening is feasible for LGMD newborn screening and should also be applies to females as both genders are affected equally.