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Spinal muscular atrophy with respiratory distress type 2

MedGen UID:
1658540
•Concept ID:
C4749434
•
Disease or Syndrome
Synonyms: Diaphragmatic spinal muscular atrophy type 2; diaphragmatic spinal muscular atrophy type 2; Severe infantile axonal neuropathy with respiratory failure type 2; severe infantile axonal neuropathy with respiratory failure type 2; SMARD2; SMARD2 - spinal muscular atrophy with respiratory distress type 2; spinal muscular atrophy with respiratory distress type 2; X-linked spinal muscular atrophy with respiratory distress
SNOMED CT: SMARD2 - spinal muscular atrophy with respiratory distress type 2 (770727008); Spinal muscular atrophy with respiratory distress type 2 (770727008); Diaphragmatic spinal muscular atrophy type 2 (770727008); Severe infantile axonal neuropathy with respiratory failure type 2 (770727008); X-linked spinal muscular atrophy with respiratory distress (770727008)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
•Concept ID:
CN307042
•
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
See: This record
Unknown inheritance (Orphanet)
 
Monarch Initiative: MONDO:0018450
Orphanet: ORPHA404521

Definition

A rare genetic motor neuron disease with characteristics of progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. The phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpinal muscular atrophy with respiratory distress type 2

Professional guidelines

PubMed

Current understanding of and emerging treatment options for spinal muscular atrophy with respiratory distress type 1 (SMARD1).
Perego MGL, Galli N, Nizzardo M, Govoni A, Taiana M, Bresolin N, Comi GP, Corti S
Cell Mol Life Sci 2020 Sep;77(17):3351-3367. Epub 2020 Mar 2 doi: 10.1007/s00018-020-03492-0. PMID: 32123965Free PMC Article
Genetic carrier screening for spinal muscular atrophy and spinal muscular atrophy with respiratory distress 1 in an isolated population in Israel.
Basel-Vanagaite L, Taub E, Drasinover V, Magal N, Brudner A, Zlotogora J, Shohat M
Genet Test 2008 Mar;12(1):53-6. doi: 10.1089/gte.2007.0030. PMID: 18298318

Recent clinical studies

Etiology

Spinal muscular atrophy with respiratory distress type 1: A multicenter retrospective study.
Viguier A, Lauwers-Cances V, Cintas P, Manel V, Peudenier S, Desguerre I, Quijano-Roy S, Vanhulle C, Fradin M, Isapof A, Jokic M, Mathieu-Dramard M, Dieterich K, Petit F, Magdelaine C, Giuliano F, Gras D, Haye D, Nizon M, Magen M, Bieth E, Cances C
Neuromuscul Disord 2019 Feb;29(2):114-126. Epub 2018 Oct 31 doi: 10.1016/j.nmd.2018.10.002. PMID: 30598237
IGHMBP2-related clinical and genetic features in a cohort of Chinese Charcot-Marie-Tooth disease type 2 patients.
Liu L, Li X, Hu Z, Mao X, Zi X, Xia K, Tang B, Zhang R
Neuromuscul Disord 2017 Feb;27(2):193-199. Epub 2016 Nov 18 doi: 10.1016/j.nmd.2016.11.008. PMID: 28065684
Long-term observations of patients with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).
Rudnik-Schöneborn S, Stolz P, Varon R, Grohmann K, Schächtele M, Ketelsen UP, Stavrou D, Kurz H, Hübner C, Zerres K
Neuropediatrics 2004 Jun;35(3):174-82. doi: 10.1055/s-2004-820994. PMID: 15248100

Diagnosis

Spinal muscular atrophy with respiratory distress type 1 (SMARD1): a rare cause of hypotonia, diaphragmatic weakness, and respiratory failure in infants.
Pekuz S, Güzin Y, Sarıtaş S, Kırbıyık Ö, Ünalp A, Yılmaz Ü
Turk J Pediatr 2022;64(2):364-374. doi: 10.24953/turkjped.2020.2012. PMID: 35611426
Spinal muscular atrophy with respiratory distress type 1: A multicenter retrospective study.
Viguier A, Lauwers-Cances V, Cintas P, Manel V, Peudenier S, Desguerre I, Quijano-Roy S, Vanhulle C, Fradin M, Isapof A, Jokic M, Mathieu-Dramard M, Dieterich K, Petit F, Magdelaine C, Giuliano F, Gras D, Haye D, Nizon M, Magen M, Bieth E, Cances C
Neuromuscul Disord 2019 Feb;29(2):114-126. Epub 2018 Oct 31 doi: 10.1016/j.nmd.2018.10.002. PMID: 30598237
Infantile spinal muscular atrophy with respiratory distress type I presenting without respiratory involvement: Novel mutations and review of the literature.
Luan X, Huang X, Liu X, Zhou H, Chen S, Cao L
Brain Dev 2016 Aug;38(7):685-9. Epub 2016 Feb 24 doi: 10.1016/j.braindev.2016.02.001. PMID: 26922252
Spinal muscular atrophy with respiratory distress type 1 (SMARD1).
Kaindl AM, Guenther UP, Rudnik-Schöneborn S, Varon R, Zerres K, Schuelke M, Hübner C, von Au K
J Child Neurol 2008 Feb;23(2):199-204. doi: 10.1177/0883073807310989. PMID: 18263757
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).
Grohmann K, Varon R, Stolz P, Schuelke M, Janetzki C, Bertini E, Bushby K, Muntoni F, Ouvrier R, Van Maldergem L, Goemans NM, Lochmüller H, Eichholz S, Adams C, Bosch F, Grattan-Smith P, Navarro C, Neitzel H, Polster T, Topaloğlu H, Steglich C, Guenther UP, Zerres K, Rudnik-Schöneborn S, Hübner C
Ann Neurol 2003 Dec;54(6):719-24. doi: 10.1002/ana.10755. PMID: 14681881

Therapy

Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1.
Vanoli F, Rinchetti P, Porro F, Parente V, Corti S
J Cell Mol Med 2015 Sep;19(9):2058-66. Epub 2015 Jun 20 doi: 10.1111/jcmm.12606. PMID: 26095024Free PMC Article

Prognosis

Spinal muscular atrophy with respiratory distress type 1 (SMARD1): a rare cause of hypotonia, diaphragmatic weakness, and respiratory failure in infants.
Pekuz S, Güzin Y, Sarıtaş S, Kırbıyık Ö, Ünalp A, Yılmaz Ü
Turk J Pediatr 2022;64(2):364-374. doi: 10.24953/turkjped.2020.2012. PMID: 35611426
Spinal muscular atrophy with respiratory distress type 1: Clinical phenotypes, molecular pathogenesis and therapeutic insights.
Saladini M, Nizzardo M, Govoni A, Taiana M, Bresolin N, Comi GP, Corti S
J Cell Mol Med 2020 Jan;24(2):1169-1178. Epub 2019 Dec 4 doi: 10.1111/jcmm.14874. PMID: 31802621Free PMC Article
Spinal muscular atrophy with respiratory distress type 1: A multicenter retrospective study.
Viguier A, Lauwers-Cances V, Cintas P, Manel V, Peudenier S, Desguerre I, Quijano-Roy S, Vanhulle C, Fradin M, Isapof A, Jokic M, Mathieu-Dramard M, Dieterich K, Petit F, Magdelaine C, Giuliano F, Gras D, Haye D, Nizon M, Magen M, Bieth E, Cances C
Neuromuscul Disord 2019 Feb;29(2):114-126. Epub 2018 Oct 31 doi: 10.1016/j.nmd.2018.10.002. PMID: 30598237
Growing up with spinal muscular atrophy with respiratory distress (SMARD1).
Hamilton MJ, Longman C, O'Hara A, Kirkpatrick M, McWilliam R
Neuromuscul Disord 2015 Feb;25(2):169-71. Epub 2014 Oct 22 doi: 10.1016/j.nmd.2014.10.005. PMID: 25454169
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).
Grohmann K, Varon R, Stolz P, Schuelke M, Janetzki C, Bertini E, Bushby K, Muntoni F, Ouvrier R, Van Maldergem L, Goemans NM, Lochmüller H, Eichholz S, Adams C, Bosch F, Grattan-Smith P, Navarro C, Neitzel H, Polster T, Topaloğlu H, Steglich C, Guenther UP, Zerres K, Rudnik-Schöneborn S, Hübner C
Ann Neurol 2003 Dec;54(6):719-24. doi: 10.1002/ana.10755. PMID: 14681881

Clinical prediction guides

The molecular mechanisms that underlie IGHMBP2-related diseases.
Rzepnikowska W, Kaminska J, Kochański A
Neuropathol Appl Neurobiol 2024 Aug;50(4):e13005. doi: 10.1111/nan.13005. PMID: 39119929
RNA helicase IGHMBP2 regulates THO complex to ensure cellular mRNA homeostasis.
Prusty AB, Hirmer A, Sierra-Delgado JA, Huber H, Guenther UP, Schlosser A, Dybkov O, Yildirim E, Urlaub H, Meyer KC, Jablonka S, Erhard F, Fischer U
Cell Rep 2024 Feb 27;43(2):113802. Epub 2024 Feb 17 doi: 10.1016/j.celrep.2024.113802. PMID: 38368610
Spinal muscular atrophy with respiratory distress type 1: A multicenter retrospective study.
Viguier A, Lauwers-Cances V, Cintas P, Manel V, Peudenier S, Desguerre I, Quijano-Roy S, Vanhulle C, Fradin M, Isapof A, Jokic M, Mathieu-Dramard M, Dieterich K, Petit F, Magdelaine C, Giuliano F, Gras D, Haye D, Nizon M, Magen M, Bieth E, Cances C
Neuromuscul Disord 2019 Feb;29(2):114-126. Epub 2018 Oct 31 doi: 10.1016/j.nmd.2018.10.002. PMID: 30598237
The natural course of infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).
Eckart M, Guenther UP, Idkowiak J, Varon R, Grolle B, Boffi P, Van Maldergem L, Hübner C, Schuelke M, von Au K
Pediatrics 2012 Jan;129(1):e148-56. Epub 2011 Dec 12 doi: 10.1542/peds.2011-0544. PMID: 22157136
Infantile spinal muscular atrophy with respiratory distress type I (SMARD 1): an atypical phenotype and review of the literature.
Messina MF, Messina S, Gaeta M, Rodolico C, Salpietro Damiano AM, Lombardo F, Crisafulli G, De Luca F
Eur J Paediatr Neurol 2012 Jan;16(1):90-4. Epub 2011 Nov 18 doi: 10.1016/j.ejpn.2011.10.005. PMID: 22099258

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