Spinal Muscular Atrophy Type III Dunaway, Sally; Montes, Jacqueline; Ryan, Patricia A. ...
Journal of Child Neurology,
06/2012, Letnik:
27, Številka:
6
Book Review, Journal Article
Recenzirano
Spinal muscular atrophy is a relatively stable chronic disease. Patients may gradually experience declines in muscle strength and motor function over time. However, functional progression is ...difficult to document, and the mechanism remains poorly understood. An 11-year-old girl was diagnosed at 19 months and took a few steps without assistance at 25 months. She was evaluated for 54 months in a prospective multicenter natural history study. Outcome measures were performed serially. From 6 to 7.5 years, motor function improved. From 7.5 to 11 years, motor function declined with increasing growth. Manual muscle testing scores minimally decreased. Motor unit number estimation studies gradually increased over 4.5 years. Compared to the published natural history of spinal muscular atrophy type III, our patient lost motor function over time. However, she walked with assistance 2 years longer than expected. Our report highlights possible precipitating factors that could affect the natural history of spinal muscular atrophy type III.
Accurate, noninvasive measures of body composition are needed for management of patients with spinal muscular atrophy. Fat mass index (fat mass/height2 in kg/m2) was measured in 16 subjects with ...spinal muscular atrophy using 5 bioelectrical impedance analysis equations and compared with a reference method, dual-energy x-ray absorptiometry. The machine default equation, validated by Cordain, was the primary analysis. Fat mass index calculated by impedance measures differed by between -2.5 kg/m2 and 1.7 kg/m2 from the reference mean (8.3 ± 5.0 kg/m2). The Cordain equation provided the smallest difference (-0.4 ± 2.0 kg/m2), with correlation coefficient of 0.92. The Cordain equation showed high sensitivity (85.7%) and specificity (100%) for prediction of ‘‘at risk for overweight’’ (fat mass index > 85th percentile for age and gender). Although insufficiently accurate for use as a research tool, bioelectrical impedance can have application as a well-tolerated, noninvasive, easily used screening tool for excess adiposity in patients with spinal muscular atrophy.
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