BACKGROUND: 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. SETTING: Pediatric intensive care unit of tertiary care hospital. PATIENTS: 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. CONCLUSIONS: 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.
BACKGROUND: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. SETTING: Pediatric intensive care unit of tertiary care hospital. PATIENTS: 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. CONCLUSIONS: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.
Authors: K Grohmann; M Schuelke; A Diers; K Hoffmann; B Lucke; C Adams; E Bertini; H Leonhardt-Horti; F Muntoni; R Ouvrier; A Pfeufer; R Rossi; L Van Maldergem; J M Wilmshurst; T F Wienker; M Sendtner; S Rudnik-Schöneborn; K Zerres; C Hübner Journal: Nat Genet Date: 2001-09 Impact factor: 38.330
Authors: S Rudnik-Schöneborn; P Stolz; R Varon; K Grohmann; M Schächtele; U-P Ketelsen; D Stavrou; H Kurz; C Hübner; K Zerres Journal: Neuropediatrics Date: 2004-06 Impact factor: 1.947
Authors: I Maystadt; M Zarhrate; P Landrieu; O Boespflug-Tanguy; S Sukno; P Collignon; J Melki; C Verellen-Dumoulin; A Munnich; L Viollet Journal: Hum Mutat Date: 2004-05 Impact factor: 4.878
Authors: Peter Andrews; Elie Azoulay; Massimo Antonelli; Laurent Brochard; Christian Brun-Buisson; Daniel De Backer; Geoffrey Dobb; Jean-Yves Fagon; Herwig Gerlach; Johan Groeneveld; Duncan Macrae; Jordi Mancebo; Philipp Metnitz; Stefano Nava; Jerôme Pugin; Michael Pinsky; Peter Radermacher; Christian Richard Journal: Intensive Care Med Date: 2007-02-14 Impact factor: 17.440
Authors: Massimo Antonelli; Elie Azoulay; Marc Bonten; Jean Chastre; Giuseppe Citerio; Giorgio Conti; Daniel De Backer; François Lemaire; Herwig Gerlach; Johan Groeneveld; Goran Hedenstierna; Duncan Macrae; Jordi Mancebo; Salvatore M Maggiore; Alexandre Mebazaa; Philipp Metnitz; Jerôme Pugin; Jan Wernerman; Haibo Zhang Journal: Intensive Care Med Date: 2008-02-29 Impact factor: 17.440
Authors: Mandy H Y Tsang; Annie T G Chiu; Bernard M H Kwong; Rui Liang; Mullin H C Yu; Kit-San Yeung; Wetor H L Ho; Christopher C Y Mak; Gordon K C Leung; Steven L C Pei; Jasmine L F Fung; Virginia C N Wong; Francesco Muntoni; Brian H Y Chung; Sophelia H S Chan Journal: Mol Genet Genomic Med Date: 2020-03-10 Impact factor: 2.183