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Acute infantile spinal muscular atrophy

MedGen UID:
870465
•Concept ID:
C4024911
•
Disease or Syndrome
HPO: HP:0007280

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAcute infantile spinal muscular atrophy

Professional guidelines

PubMed

Respiratory management of spinal muscular atrophy type 1 patients treated with Nusinersen.
Menard J, Seferian AM, Fleurence E, Barzic A, Binoche A, Labouret G, Coutier L, Vuillerot C, Bieleu BM, Gomez Garcia de la Banda M, Corvol H, Servais L, Taytard J
Pediatr Pulmonol 2022 Jun;57(6):1505-1512. Epub 2022 Mar 28 doi: 10.1002/ppul.25899. PMID: 35307979
Respiratory management of children with spinal muscular atrophy (SMA).
Fauroux B, Griffon L, Amaddeo A, Stremler N, Mazenq J, Khirani S, Baravalle-Einaudi M
Arch Pediatr 2020 Dec;27(7S):7S29-7S34. doi: 10.1016/S0929-693X(20)30274-8. PMID: 33357594
Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care.
Mercuri E, Finkel RS, Muntoni F, Wirth B, Montes J, Main M, Mazzone ES, Vitale M, Snyder B, Quijano-Roy S, Bertini E, Davis RH, Meyer OH, Simonds AK, Schroth MK, Graham RJ, Kirschner J, Iannaccone ST, Crawford TO, Woods S, Qian Y, Sejersen T; SMA Care Group
Neuromuscul Disord 2018 Feb;28(2):103-115. Epub 2017 Nov 23 doi: 10.1016/j.nmd.2017.11.005. PMID: 29290580

Recent clinical studies

Etiology

Duchenne muscular dystrophy and spinal muscular atrophy type I segregating in the same family.
Oldfors A, Martinsson T, Tessin I, Wahlström J, Wang S
Clin Genet 1994 Feb;45(2):97-103. doi: 10.1111/j.1399-0004.1994.tb04002.x. PMID: 8004806
Cluster of acute infantile spinal muscular atrophy (Werdnig-Hoffmann disease) in a limited area of Reunion Island.
Pascalet-Guidon MJ, Bois E, Feingold J, Mattei JF, Combes JC, Hamon C
Clin Genet 1984 Jul;26(1):39-42. doi: 10.1111/j.1399-0004.1984.tb00785.x. PMID: 6467653

Diagnosis

Duchenne muscular dystrophy and spinal muscular atrophy type I segregating in the same family.
Oldfors A, Martinsson T, Tessin I, Wahlström J, Wang S
Clin Genet 1994 Feb;45(2):97-103. doi: 10.1111/j.1399-0004.1994.tb04002.x. PMID: 8004806
Acute Werdnig-Hoffmann disease: acute infantile spinal muscular atrophy.
Pearn JH, Wilson J
Arch Dis Child 1973 Jun;48(6):425-30. doi: 10.1136/adc.48.6.425. PMID: 4712772Free PMC Article

Prognosis

Epidemiological data on Werdnig-Hoffmann disease in Germany (West-Thüringen).
Thieme A, Mitulla B, Schulze F, Spiegler AW
Hum Genet 1993 Apr;91(3):295-7. doi: 10.1007/BF00218278. PMID: 8478016
Acute Werdnig-Hoffmann disease: acute infantile spinal muscular atrophy.
Pearn JH, Wilson J
Arch Dis Child 1973 Jun;48(6):425-30. doi: 10.1136/adc.48.6.425. PMID: 4712772Free PMC Article

Clinical prediction guides

Acute infantile spinal muscular atrophy. Muscle apoptosis as a proposed pathogenetic mechanism.
Fidziańska A, Goebel HH, Warlo I
Brain 1990 Apr;113 ( Pt 2):433-45. doi: 10.1093/brain/113.2.433. PMID: 2328412

Supplemental Content

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