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Bone. 2015 Oct;79:116-20. doi: 10.1016/j.bone.2015.05.039. Epub 2015 Jun 5.

Bone and Spinal Muscular Atrophy.

Author information

1
Experimental Laboratory for Children's Bone Metabolism Research, Bone Metabolism Unit, Institute Auxologico Italiano IRCCS, Milan, Italy. Electronic address: s.vai@auxologico.it.
2
Experimental Laboratory for Children's Bone Metabolism Research, Bone Metabolism Unit, Institute Auxologico Italiano IRCCS, Milan, Italy.
3
Child Neurology Unit, Carlo Besta Neurological Institute Foundation, Milan, Italy.
4
S.A.PRE., Ospedale Policlinico Maggiore Mangiagalli, and Regina Elena Foundation, Milan, Italy.
5
Neuromuscular Disease and Immunology Unit, Carlo Besta Neurological Institute Foundation, Milan, Italy.
6
Developmental Neurology Unit, Carlo Besta Neurological Institute Foundation, Milan, Italy.

Abstract

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 15-171 months) 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 20 ng/ml in 9 children and below 12 ng/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.

KEYWORDS:

25-hydroxyvitamin D; Bone mineral density; Fractures; Osteoporosis; Spinal Muscular Atrophy

PMID:
26055105
DOI:
10.1016/j.bone.2015.05.039
[Indexed for MEDLINE]

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