Giannini Alberto, Pinto Anna Maria, Rossetti Giordano, Prandi Edi, Tiziano Danilo, Brahe Christina, Nardocci Nardo
Pediatric Intensive Care Unit, Fondazione IRCCS Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Via della Commenda 9, 20122, Milan, Italy.
Intensive Care Med. 2006 Nov;32(11):1851-5. doi: 10.1007/s00134-006-0346-8. Epub 2006 Sep 9.
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive neuromuscular disease of unknown prevalence characterized by degeneration of anterior horn alpha-motoneurons and manifesting in the first 6months of life as life-threatening irreversible diaphragmatic paralysis associated with progressive symmetrical muscular weakness (distal lower limbs mainly involved), muscle atrophy, and peripheral sensory neuropathy.
Pediatric intensive care unit of tertiary care hospital.
We present two new cases of SMARD1 and report two new mutations in the gene IGHMBP2 which encodes immunoglobulin mu-binding protein 2 on chromosome 11q13.
SMARD1 is a poor-prognosis disease that should be considered when acute respiratory insufficiency, of suspected neuromuscular or unclear cause, develops during the first 6months of life. Diaphragmatic paralysis, manifesting as dyspnea and paradoxical respiration, is the most prominent presenting sign and diaphragmatic motility should be investigated early by fluoroscopy or ultrasound. Electromyography and nerve conduction studies revealing peripheral motor and sensory neuropathy then suggest the diagnosis which should be confirmed by genetic analysis.
1型伴有呼吸窘迫的脊髓性肌萎缩症（SMARD1）是一种罕见的常染色体隐性神经肌肉疾病，其患病率未知，特征为前角α运动神经元变性，在生命的前6个月表现为危及生命的不可逆膈肌麻痹，伴有进行性对称性肌无力（主要累及下肢远端）、肌肉萎缩和周围感觉神经病变。
三级医院的儿科重症监护病房。
我们报告两例新的SMARD1病例，并报道在位于11q13染色体上编码免疫球蛋白μ结合蛋白2的IGHMBP2基因中的两个新突变。
SMARD1是一种预后不良的疾病，当在生命的前6个月出现原因不明的疑似神经肌肉性急性呼吸功能不全时，应考虑该病。表现为呼吸困难和反常呼吸的膈肌麻痹是最突出的症状，应早期通过荧光透视检查或超声检查膈肌活动。肌电图和神经传导研究显示周围运动和感觉神经病变，随后提示诊断，应通过基因分析加以证实。
