Optimal nutrition support and metabolic monitoring are essential for patients with SMA, and a comprehensive nutritional assessment can guide personalized nutritional therapy for this vulnerable population. Although the life expectancy of these patients has increased due to novel disease-modifying therapies and standardization of care, understanding of the involvement of metabolism and nutrition in SMA is still limited. A variety of metabolic abnormalities, especially altered fatty acid metabolism and impaired glucose tolerance, has been described in isolated cases of SMA therefore, the impact of SMN deficiency in metabolic abnormalities has been speculated. However, emerging research extends the pathogenic effect of SMN deficiency beyond motor neurons. Pathomechanically, SMA is caused by low levels of the survival motor neuron protein (SMN) resulting from the loss of the SMN1 gene. Spinal muscular atrophy (SMA), the main genetic cause of infant death, is a neurodegenerative disease characterized by the selective loss of motor neurons in the anterior horn of the spinal cord, accompanied by muscle wasting. 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.Ĭopyright © 2015. 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. 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. Lumbar spine BMAD (bone mineral apparent density) Z-score was below -1.5 in 50% of children. 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). ![]() ![]() 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. Spinal Muscular Atrophy (SMA) is an autosomal recessive neuromuscular disease, leading to progressive denervation atrophy in the involved skeletal muscles.
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