Bent spine syndrome as an initial manifestation of late-onset multiple acyl-CoA dehydrogenase deficiency: a case report and literature review
作者： Yufen Peng , Min Zhu , Junjun Zheng , Yuanzhao Zhu , Xiaobing Li
DOI: 10.1186/S12883-015-0380-7
关键词: Bent Spine Syndrome 、 Medicine 、 Muscle weakness 、 Neurochemistry 、 Late onset 、 Neurology 、 Peripheral neuropathy 、 Endocrinology 、 Multiple Acyl-CoA Dehydrogenase Deficiency 、 Proximal muscle weakness 、 Internal medicine
摘要: Background Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive inherited disease of metabolic dysfunction clinically characterized by fluctuating proximal muscle weakness, excise intolerance, and dramatic riboflavin responsiveness. Dropped head syndrome can occasionally be observed in some severe patients with late-onset MADD; however, bent spine as initial symptom had not been reported MADD.
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