Long-term observations of patients with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)

Neuropediatrics
Sabine Rudnik-SchönebornKlaus Zerres

Abstract

We describe 6 unrelated patients affected by infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1) with prolonged survival upon mechanical ventilation (4.5-11 years), which has not been reported before. Biallelic mutations in the IGHMBP2 gene proved the diagnosis of SMARD1 in all patients. Disease onset was in the first 2 months in the described patients, starting with generalised hypotonia, failure to thrive, and early breathing difficulties. Diaphragmatic palsy was diagnosed and permanent ventilation was initiated 2-8 months after onset. Within months a more distal muscular atrophy became evident associated with joint contractures (talipes), hand drops, and fatty finger pads. Motor development remained minimal, loss of function was observed within the first year after which no further progression was recorded. Voiding dysfunction with reflux nephropathy was observed in 3 patients and has not been reported before. Further evidence of autonomic nerve dysfunction resulting in cardiac arrhythmia, hypertension, and excessive sweating was given in 2 patients. Investigative results were largely compatible with those obtained in classic SMA. However, neurogenic atrophy muscle was more pronounced in distal muscle...Continue Reading

Citations

Sep 12, 2006·Intensive Care Medicine·Alberto GianniniNardo Nardocci
Aug 10, 2010·Human Molecular Genetics·Christopher R HeierChristine J DiDonato
Apr 6, 2013·Journal of Pediatric Neurosciences·Aziz MajidDe Goede Christian
Jan 7, 2014·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Maria JędrzejowskaIrena Hausmanowa-Petrusewicz
Apr 7, 2010·Archives of Orthopaedic and Trauma Surgery·Albert FujakJürgen Forst
Aug 10, 2013·Tidsskrift for den Norske lægeforening : tidsskrift for praktisk medicin, ny række·Noralv BreivikChristina Vogt
Sep 25, 2014·Journal of the Neurological Sciences·Francesca PorroStefania Corti
Mar 1, 2011·Neuromuscular Disorders : NMD·Tyler Mark PiersonWilliam Gahl
Jul 22, 2009·The Journal of Pediatrics·Alexandra prufer de Queiroz Campos AraujoKathryn J Swoboda
Sep 23, 2008·Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie·A M KaindlK von Au
Feb 11, 2016·Molecular Therapy : the Journal of the American Society of Gene Therapy·Monir ShababiChristian L Lorson
Jul 24, 2013·Journal of Anatomy·Monir ShababiSabine S Rudnik-Schöneborn
Jun 23, 2015·Journal of Cellular and Molecular Medicine·Fiammetta VanoliStefania Corti
Aug 25, 2015·Neuromuscular Disorders : NMD·Justin D WagnerHugh J McMillan
Feb 26, 2014·Palliative & Supportive Care·Alberto García-SalidoRicardo Martino-Alba
Dec 3, 2014·Neuromuscular Disorders : NMD·Mark James HamiltonRobert McWilliam
Dec 3, 2014·American Journal of Human Genetics·Ellen CottenieHenry Houlden
Jul 28, 2016·Neuromuscular Disorders : NMD·Christeen Ramane J PedurupillayPetter Strømme
Jul 28, 2016·Neuromuscular Disorders : NMD·Joseph K BurnsRobin J Parks
Feb 17, 2017·Journal of Human Genetics·Jun-Hui YuanHiroshi Takashima
Feb 12, 2008·Journal of Child Neurology·Angela M KaindlKatja von Au
Mar 4, 2010·Journal of Child Neurology·Abdulaziz AlSaman, Hoda Tomoum
Feb 28, 2019·Muscle & Nerve·Francesca SalminValeria Ada Sansone
Mar 4, 2020·Cellular and Molecular Life Sciences : CMLS·Martina G L PeregoStefania Corti
Oct 13, 2019·Biochemical and Biophysical Research Communications·Monir ShababiChristian L Lorson
Sep 12, 2018·Molecular Therapy. Methods & Clinical Development·Monir ShababiChristian L Lorson
Nov 3, 2021·Human Molecular Genetics·Caley E SmithChristian L Lorson
Nov 22, 2011·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Maria F MessinaFilippo De Luca

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