Bone and Spinal Muscular Atrophy

• Published in: Bone (New York, N.Y.) Vol. 79; pp. 116 - 120
• Main Authors: Vai, Silvia, Bianchi, Maria Luisa, Moroni, Isabella, Mastella, Chiara, Broggi, Francesca, Morandi, Lucia, Arnoldi, Maria Teresa, Bussolino, Chiara, Baranello, Giovanni
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.10.2015
• Subjects: 25-hydroxyvitamin D; Absorptiometry, Photon; Adolescent; Bone and Bones - metabolism; Bone Density - physiology; Bone mineral density; Child; Child, Preschool; Female; Fractures; Humans; Male; Orthopedics; Osteoporosis; Spinal Fractures - epidemiology; Spinal Muscular Atrophies of Childhood - complications; Spinal Muscular Atrophy; Osteoporosis; Bone mineral density; Fractures; 25-hydroxyvitamin D; Spinal Muscular Atrophy
• ISSN: 8756-3282; 1873-2763; 1873-2763
• DOI: 10.1016/j.bone.2015.05.039

Spinal Muscular Atrophy (SMA) is an autosomal recessive neuromuscular disease, leading to progressive denervation atrophy in the involved skeletal muscles. Bone status has been poorly studied. We assessed bone metabolism, bone mineral density (BMD) and fractures in 30 children (age range 15–171months) affected by SMA types 2 and 3. Eighteen children (60%) had higher than normal levels of CTx (bone resorption marker); 25-OH vitamin D was in the lower range of normal (below 20ng/ml in 9 children and below 12ng/ml in 2). Lumbar spine BMAD (bone mineral apparent density) Z-score was below −1.5 in 50% of children. According to clinical records, four children had sustained four peripheral fractures; on spine X-rays, we observed 9 previously undiagnosed vertebral fractures in 7 children. There was a significant inverse regression between PTH and 25-OH D levels, and a significant regression between BMC and BMAD values and the scores of motor-functional tests. Even if this study could not establish the pathogenesis of bone derangements in SMA, its main findings – reduced bone density, low 25OH vitamin D levels, increased bone resorption markers and asymptomatic vertebral fractures also in very young patients – strongly suggest that even young subjects affected by SMA should be considered at risk of osteopenia and even osteoporosis and fractures. •Bone metabolism, BMD and fractures were assessed in 30 children with Spinal Muscular Atrophy (SMA) types 2 and 3.•Low 25-OH vitamin D was observed in 36.7%, and high CTx (bone resorption marker) in 60%.•Lumbar spine BMAD (bone mineral apparent density) Z-score was below −1.5 in 50%.•9 vertebral fractures (8 dorsal, 1 lumbar) were observed in 7 children.•Subjects with SMA should be considered at risk of osteoporosis and fractures.