Figure 9.
Four siblings affected by rigid spine muscular dystrophy type 1 (RSMD1) can be seen in side and frontal views. The loss of muscle bulk is striking, and the presence of scoliosis, varying degrees of lordosis, and joint contractures at elbows and knees can be seen. Previously published by Flanigan et al. in Ann Neurol 2000;47:152–161 with permission of John Wiley & Sons [132].