Abstract
BackgroundAutosomal-recessive proximal spinal muscular atrophies (SMA) are disorders characterized by a ubiquitous deficiency of the survival of motor neuron protein that leads to a multisystemic disorder, which mostly affects alpha motor neurons. Disease progression is clinically associated with failure to thrive or weight loss, mainly caused by chewing and swallowing difficulties. Although pancreatic involvement has been described in animal models, systematic endocrinological evaluation of the energy metabolism in humans is lacking.MethodsIn 43 patients with SMA type I-III (8 type I; 22 type II; 13 type III), aged 0.6–21.8 years, auxological parameters, pubertal stage, motor function (Motor Function Measurement 32 –MFM32) as well as levels of leptin, insulin glucose, hemoglobin A1c, Homeostasis Model Assessment index and an urinary steroid profile were determined.ResultsHyperleptinemia was found in 15/35 (43%) of our patients; 9/15 (60%) of the hyperleptinemic patients were underweight, whereas 1/15 (7%) was obese. Hyperleptinemia was associated with SMA type (p = 0.018). There was a significant association with decreased motor function (MFM32 total score in hyperleptinemia 28.5%, in normoleptinemia 54.7% p = 0.008, OR 0.969; 95%-CI: 0.946–0.992). In addition, a higher occurrence of hirsutism, premature pubarche and a higher variability of the urinary steroid pattern were found.ConclusionHyperleptinemia is highly prevalent in underweight children with SMA and is associated with disease severity and decreased motor function. Neuronal degradation of hypothalamic cells or an increase in fat content by muscle remodeling could be the cause of hyperleptinemia.
Highlights
Hyperleptinemia is highly prevalent in underweight children with spinal muscular atrophies (SMA) and is associated with disease severity and decreased motor function
Hyperleptinemia is associated with lower motor function, indicating a hypermetabolism
Autosomal-recessive proximal spinal muscular atrophies (SMA) are monogenetic progressive disorders characterized by a ubiquitous deficiency of the survival of motor neuron (SMN) protein, leading to a multisystemic disorder which, for unexplained reasons, appears to affect mostly alpha motor neurons [1]
Summary
Autosomal-recessive proximal spinal muscular atrophies (SMA) are monogenetic progressive disorders characterized by a ubiquitous deficiency of the survival of motor neuron (SMN) protein, leading to a multisystemic disorder which, for unexplained reasons, appears to affect mostly alpha motor neurons [1]. In an Smn−/−/n−/2 mouse model could be shown that low SMN protein level disrupt proliferation and neurogenesis and plays an important role in brain development, and SMN protein deficiency resulted in defective hippocampal development [8]. Autosomal-recessive proximal spinal muscular atrophies (SMA) are disorders characterized by a ubiquitous deficiency of the survival of motor neuron protein that leads to a multisystemic disorder, which mostly affects alpha motor neurons. Disease progression is clinically associated with failure to thrive or weight loss, mainly caused by chewing and swallowing difficulties. Pancreatic involvement has been described in animal models, systematic endocrinological evaluation of the energy metabolism in humans is lacking
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