Patient with spinal muscular atrophy with respiratory distress type 1 presenting initially with hypertonia

Han, Chunxi; Mai, Jiahui; Tian, Tian; He, Ying; Liao, Jianxiang; Wen, Feiqiu; Yi, Xin; Yang, Yun

doi:10.1016/j.braindev.2014.09.004

Cited by 5 publications

(5 citation statements)

References 9 publications

(11 reference statements)

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“…This patient presented intrauterine growth retardation and autonomic dysregulation, such as unexplained tachycardia or excessive sweating, atrophy of the calf muscle replaced by fat mass causing wrist and ankle joint contractures, as previously reported,10 - 12 as well as poor sucking and respiratory failure. However, diaphragmatic paralysis was not observed until 8 months of age.…”

Section: Discussionsupporting

confidence: 71%

“…2. This might be due to the compensational responsiveness of the limb girdle muscles against distal neuromuscular paralysis, as reported in a similar case report of a patient with SMARD1 presenting initially with hypertonia 12. Only one SMARD1 patient carrying p.Arg425Cys of IGHMBP2 has been reported in literature, and this male patient had another heterozygous truncated mutation with c.2611+1G>T IGHMBP2 .…”

Section: Discussionsupporting

confidence: 59%

“…Respiratory failure in our patient was expected to be mainly due to respiratory muscle weakness rather than diaphragmatic paralysis, although eventuation of the diaphragm is highly suggestive of SMARD1, among neuromuscular disorders. Several cases of atypical phenotype with SMARD1, such as those with no severe signs of respiratory involvement despite an early onset diaphragmatic paralysis, have been found in the literature 10 , 12 , 13. Moreover, particularly in this patient, we observed muscle tone changes, as a result of which she was initially hypotonic and then became hypertonic.…”

Section: Discussionsupporting

confidence: 55%

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Diagnostic Odyssey and Application of Targeted Exome Sequencing in the Investigation of Recurrent Infant Deaths in a Syrian Consanguineous Family: a Case of Spinal Muscular Atrophy with Respiratory Distress Type 1

2019

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Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive disorder caused by a defect in the immunoglobulin mu binding protein 2 ( IGHMBP2 ) gene, leading to motor neuron degeneration. We identified an infant with SMARD1 by targeted exome sequencing from a consanguineous Syrian family having a history of recurrent infant deaths. The patient initially presented intrauterine growth retardation, poor sucking, failure to thrive, and respiratory failure at the age of two months, and an inborn error of metabolism was suspected at first. Over a period of one month, the infant showed rapid progression of distal muscular weakness with hand and foot contractures, which were suggestive of neuromuscular disease. Using targeted exome sequencing, the mutation in IGHMBP2 was confirmed, although the first report was normal. Targeted exome sequencing enabled identification of the genetic cause of recurrent mysterious deaths in the consanguineous family. Additionally, it is suggested that a detailed phenotypic description and communication between bioinformaticians and clinicians is important to reduce false negative results in exome sequencing.

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Section: Discussionsupporting

confidence: 71%

Section: Discussionsupporting

confidence: 59%

Section: Discussionsupporting

confidence: 55%

See 1 more Smart Citation

Diagnostic Odyssey and Application of Targeted Exome Sequencing in the Investigation of Recurrent Infant Deaths in a Syrian Consanguineous Family: a Case of Spinal Muscular Atrophy with Respiratory Distress Type 1

2019

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“…Among the 52 literature articles screened (Supplementary Table S1) (Robison et al, 1998;Grohmann et al, 2001Grohmann et al, , 2003Guenther et al, 2004Guenther et al, , 2007Maystadt et al, 2004;Giannini et al, 2006;Wong et al, 2006;Joseph et al, 2009;AlSaman and Tomoum, 2010;Baughn et al, 2011;Pierson et al, 2011;Chalancon et al, 2012;Eckart et al, 2012;Majid et al, 2012;Messina et al, 2012;Gitiaux et al, 2013;Blaschek et al, 2014;Cottenie et al, 2014;Jedrzejowska et al, 2014;Lin et al, 2014;Litvinenko et al, 2014;Hamilton et al, 2015;Han et al, 2015;Wagner et al, 2015;Lingappa et al, 2016;Luan et al, 2016;Pedurupillay et al, 2016;San et al, 2016;Dohrn et al, 2017;Liu et al, 2017;Yuan et al, 2017;Zhang et al, 2017;Habibi et al, 2018;Kulshrestha et al, 2018;Tomaselli et al, 2018;Wu et al, 2018;Cassini et al, 2019;Kim et al, 2019;Yasui et al, 2019;Cortese et al, 2020;…”

Section: Resultsmentioning

confidence: 99%

Exploring the relationship between IGHMBP2 gene mutations and spinal muscular atrophy with respiratory distress type 1 and Charcot-Marie-Tooth disease type 2S: a systematic review

Tian,

Xing,

Shi

et al. 2023

Front. Neurosci.

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BackgroundIGHMBP2 is a crucial gene for the development and maintenance of the nervous system, especially in the survival of motor neurons. Mutations in this gene have been associated with spinal muscular atrophy with respiratory distress type 1 (SMARD1) and Charcot-Marie-Tooth disease type 2S (CMT2S).MethodsWe conducted a systematic literature search using the PubMed database to identify studies published up to April 1st, 2023, that investigated the association between IGHMBP2 mutations and SMARD1 or CMT2S. We compared the non-truncating mutations and truncating mutations of the IGHMBP2 gene and selected high-frequency mutations of the IGHMBP2 gene.ResultsWe identified 52 articles that investigated the association between IGHMBP2 mutations and SMARD1/CMT2S. We found 6 hotspot mutations of the IGHMBP2 gene. The truncating mutations in trans were all associated with SMARD1.ConclusionThis study provides evidence that the complete LOF mechanism of the IGHMBP2 gene defect may be an important cause of SMARD1.

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“…Patients diagnosed with SMARD1 later in life have been described and these cases are designated juvenile SMARD1 [8,25,39,40,41,54,89]. Atypical forms have been reported [15,45,71,76]. The patients were considered atypical because they did not exhibit prominent respiratory involvement but rather exhibited autonomic, neuropathic, bone, and multisystem involvement.…”

Section: Introductionmentioning

confidence: 99%

Current understanding of and emerging treatment options for spinal muscular atrophy with respiratory distress type 1 (SMARD1)

Perego

Galli

Nizzardo

et al. 2020

Cell. Mol. Life Sci.

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Spinal muscular atrophy (SMA) with respiratory distress type 1 (SMARD1) is an autosomal recessive motor neuron disease that is characterized by distal and proximal muscle weakness and diaphragmatic palsy that leads to respiratory distress. Without intervention, infants with the severe form of the disease die before 2 years of age. SMARD1 is caused by mutations in the IGHMBP2 gene that determine a deficiency in the encoded IGHMBP2 protein, which plays a critical role in motor neuron survival because of its functions in mRNA processing and maturation. Although it is rare, SMARD1 is the second most common motor neuron disease of infancy, and currently, treatment is primarily supportive. No effective therapy is available for this devastating disease, although multidisciplinary care has been an essential element of the improved quality of life and life span extension in these patients in recent years. The objectives of this review are to discuss the current understanding of SMARD1 through a summary of the presently known information regarding its clinical presentation and pathogenesis and to discuss emerging therapeutic approaches. Advances in clinical care management have significantly extended the lives of individuals affected by SMARD1 and research into the molecular mechanisms that lead to the disease has identified potential strategies for intervention that target the underlying causes of SMARD1. Gene therapy via gene replacement or gene correction provides the potential for transformative therapies to halt or possibly prevent neurodegenerative disease in SMARD1 patients. The recent approval of the first gene therapy approach for SMA associated with mutations in the SMN1 gene may be a turning point for the application of this strategy for SMARD1 and other genetic neurological diseases.

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Patient with spinal muscular atrophy with respiratory distress type 1 presenting initially with hypertonia

Cited by 5 publications

References 9 publications

Diagnostic Odyssey and Application of Targeted Exome Sequencing in the Investigation of Recurrent Infant Deaths in a Syrian Consanguineous Family: a Case of Spinal Muscular Atrophy with Respiratory Distress Type 1

Diagnostic Odyssey and Application of Targeted Exome Sequencing in the Investigation of Recurrent Infant Deaths in a Syrian Consanguineous Family: a Case of Spinal Muscular Atrophy with Respiratory Distress Type 1

Exploring the relationship between IGHMBP2 gene mutations and spinal muscular atrophy with respiratory distress type 1 and Charcot-Marie-Tooth disease type 2S: a systematic review

Current understanding of and emerging treatment options for spinal muscular atrophy with respiratory distress type 1 (SMARD1)

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