20 岁男性，诊断为婴儿起病型脊髓性肌萎缩伴呼吸窘迫-1。
Infantile-onset spinal muscular atrophy with respiratory distress-1 diagnosed in a 20-year-old man.
机构信息
NIH Undiagnosed Diseases Program, NIH Office of Rare Disease, Research and NHGRI, Bethesda, MD 20892-3705, USA.
出版信息
Neuromuscul Disord. 2011 May;21(5):353-5. doi: 10.1016/j.nmd.2011.02.005. Epub 2011 Feb 25.
Abstract
Spinal muscular atrophy with respiratory distress (SMARD1) presents within the first 13months of age with low birth weight, progressive length dependent motor neuropathy, and respiratory failure from diaphragmatic paralysis. SMARD1 is caused by mutations in IGHMBP2, encoding the immunoglobulin μ-binding protein 2. Because of the severity of the disorder, many infantile-onset SMARD1 patients do not live past the first decade of life. This report documents the clinical course of a 20-year-old man diagnosed with SMARD1.
摘要
伴发进行性呼吸窘迫的脊髓性肌萎缩症 1 型（SMARD1）在出生后 13 个月内发病，表现为出生体重低、进行性长度依赖性运动神经病和膈肌麻痹导致的呼吸衰竭。SMARD1 由 IGHMBP2 基因突变引起，该基因编码免疫球蛋白 μ 结合蛋白 2。由于疾病的严重程度，许多婴儿期起病的 SMARD1 患者无法活过生命的第一个十年。本报告记录了一名 20 岁男性患者的临床病程，该患者被诊断为 SMARD1。
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