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Spinal muscular atrophy (rare disease) might be helped with vitamin D - June 2015

Vitamin D has been proven many times to fight bone and muscle problems
Vitamin D might fight many aspects of Spinal Muscular Atrophy
Maintence dosing typically does not show any benefit for 2-8 months
Starting with a Vitamin D loading dose often shows benefits in weeks


Bone and spinal muscular atrophy.

Bone. 2015 Jun 5. pii: S8756-3282(15)00220-3. doi: 10.1016/j.bone.2015.05.039.
Vai S1, Bianchi ML2, Moroni I3, Mastella C4, Broggi F2, Morandi L5, Arnoldi MT6, Bussolino C6, Baranello G6.
1Experimental Laboratory for Children's Bone Metabolism Research, Bone Metabolism Unit, Institute Auxologico Italiano IRCCS, Milan, Italy. Electronic address: s.vai at auxologico.it.
2Experimental Laboratory for Children's Bone Metabolism Research, Bone Metabolism Unit, Institute Auxologico Italiano IRCCS, Milan, Italy.
3Child Neurology Unit, Carlo Besta Neurological Institute Foundation, Milan, Italy.
4S.A.PRE., Ospedale Policlinico Maggiore Mangiagalli, and Regina Elena Foundation, Milan, Italy.
5Neuromuscular Disease and Immunology Unit, Carlo Besta Neurological Institute Foundation, Milan, Italy.
6Developmental Neurology Unit, Carlo Besta Neurological Institute Foundation, Milan, Italy.

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 type 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.

PMID: 26055105


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