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Floppy infant syndrome

MedGen UID:
78751
•Concept ID:
C0270971
•
Disease or Syndrome
Synonyms: Congenital hypotonia; infantile hypotonia
SNOMED CT: Floppy infant (205294008); Floppy baby (205294008); Congenital hypotonia (33010005); Floppy infant syndrome (33010005)

Definition

A syndrome of generalized poor muscle tone and muscle weakness presenting in a newborn infant. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFloppy infant syndrome

Professional guidelines

PubMed

Side effects of treatment with benzodiazepines.
Uzun S, Kozumplik O, Jakovljević M, Sedić B
Psychiatr Danub 2010 Mar;22(1):90-3. PMID: 20305598
Prenatal diagnosis and genetic counseling.
Dumars KW, Dalrymple GT, Murray AK
West J Med 1976 May;124(5):377-87. PMID: 1274337Free PMC Article

Recent clinical studies

Etiology

A review of the safety of clozapine during pregnancy and lactation.
Mehta TM, Van Lieshout RJ
Arch Womens Ment Health 2017 Feb;20(1):1-9. Epub 2016 Oct 4 doi: 10.1007/s00737-016-0670-0. PMID: 27704220
Clinical and skeletal muscle biopsy characteristics of 25 patients with floppy infant syndrome.
Bing Q, Hu J, Li N, Shen HR, Zhao Z
Clin Neuropathol 2013 Nov-Dec;32(6):471-9. doi: 10.5414/NP300598. PMID: 23743156
Side effects of treatment with benzodiazepines.
Uzun S, Kozumplik O, Jakovljević M, Sedić B
Psychiatr Danub 2010 Mar;22(1):90-3. PMID: 20305598
Neuromuscular junctional disorders.
Girija AS, Ashraf VV
Indian J Pediatr 2008 Jul;75(7):699-702. Epub 2008 Aug 21 doi: 10.1007/s12098-008-0132-4. PMID: 18716738
The effects of benzodiazepine use during pregnancy and lactation.
McElhatton PR
Reprod Toxicol 1994 Nov-Dec;8(6):461-75. doi: 10.1016/0890-6238(94)90029-9. PMID: 7881198

Diagnosis

Floppy infant syndrome as a first manifestation of LMNA-related congenital muscular dystrophy.
Jędrzejowska M, Potulska-Chromik A, Gos M, Gambin T, Dębek E, Rosiak E, Stępień A, Szymańczak R, Wojtaś B, Gielniewski B, Ciara E, Sobczyńska A, Chrzanowska K, Kostera-Pruszczyk A, Madej-Pilarczyk A
Eur J Paediatr Neurol 2021 May;32:115-121. Epub 2021 Apr 20 doi: 10.1016/j.ejpn.2021.04.005. PMID: 33940562
Clinical and skeletal muscle biopsy characteristics of 25 patients with floppy infant syndrome.
Bing Q, Hu J, Li N, Shen HR, Zhao Z
Clin Neuropathol 2013 Nov-Dec;32(6):471-9. doi: 10.5414/NP300598. PMID: 23743156
Side effects of treatment with benzodiazepines.
Uzun S, Kozumplik O, Jakovljević M, Sedić B
Psychiatr Danub 2010 Mar;22(1):90-3. PMID: 20305598
The floppy infant: contribution of genetic and metabolic disorders.
Prasad AN, Prasad C
Brain Dev 2003 Oct;25(7):457-76. doi: 10.1016/s0387-7604(03)00066-4. PMID: 13129589
Congenital myopathies with "diagnostic" pathological features.
Korényi-Both A, Korényi-Both I
J Med 1987;18(2):93-107. PMID: 3323392

Therapy

A review of the safety of clozapine during pregnancy and lactation.
Mehta TM, Van Lieshout RJ
Arch Womens Ment Health 2017 Feb;20(1):1-9. Epub 2016 Oct 4 doi: 10.1007/s00737-016-0670-0. PMID: 27704220
Side effects of treatment with benzodiazepines.
Uzun S, Kozumplik O, Jakovljević M, Sedić B
Psychiatr Danub 2010 Mar;22(1):90-3. PMID: 20305598
Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations.
Schara U, Barisic N, Deschauer M, Lindberg C, Straub V, Strigl-Pill N, Wendt M, Abicht A, Müller JS, Lochmüller H
Neuromuscul Disord 2009 Dec;19(12):828-32. Epub 2009 Oct 17 doi: 10.1016/j.nmd.2009.09.008. PMID: 19837590
The effects of benzodiazepine use during pregnancy and lactation.
McElhatton PR
Reprod Toxicol 1994 Nov-Dec;8(6):461-75. doi: 10.1016/0890-6238(94)90029-9. PMID: 7881198
Use of benzodiazepines during pregnancy, labour and lactation, with particular reference to pharmacokinetic considerations.
Kanto JH
Drugs 1982 May;23(5):354-80. doi: 10.2165/00003495-198223050-00002. PMID: 6124415

Prognosis

Floppy infant syndrome as a first manifestation of LMNA-related congenital muscular dystrophy.
Jędrzejowska M, Potulska-Chromik A, Gos M, Gambin T, Dębek E, Rosiak E, Stępień A, Szymańczak R, Wojtaś B, Gielniewski B, Ciara E, Sobczyńska A, Chrzanowska K, Kostera-Pruszczyk A, Madej-Pilarczyk A
Eur J Paediatr Neurol 2021 May;32:115-121. Epub 2021 Apr 20 doi: 10.1016/j.ejpn.2021.04.005. PMID: 33940562
Single nucleotide polymorphism array analysis uncovers a large, novel duplication in Xq13.1 in a floppy infant syndrome patient.
Liu M, Wang Y, Yang S, Wei H, Tuo M, Chang F, Wang Y
Int J Dev Neurosci 2019 May;74:56-60. Epub 2018 Sep 12 doi: 10.1016/j.ijdevneu.2018.09.004. PMID: 30217625
Infantile form of muscle phosphofructokinase deficiency in a premature neonate.
Wu PL, Yang YN, Tey SL, Yang CH, Yang SN, Lin CS
Pediatr Int 2015 Aug;57(4):746-9. Epub 2015 Jun 25 doi: 10.1111/ped.12616. PMID: 26108272
Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations.
Schara U, Barisic N, Deschauer M, Lindberg C, Straub V, Strigl-Pill N, Wendt M, Abicht A, Müller JS, Lochmüller H
Neuromuscul Disord 2009 Dec;19(12):828-32. Epub 2009 Oct 17 doi: 10.1016/j.nmd.2009.09.008. PMID: 19837590
Pregnancy and the Ehlers-Danlos syndrome: a retrospective study in a Dutch population.
Lind J, Wallenburg HC
Acta Obstet Gynecol Scand 2002 Apr;81(4):293-300. doi: 10.1034/j.1600-0412.2002.810403.x. PMID: 11952457

Clinical prediction guides

Floppy infant syndrome as a first manifestation of LMNA-related congenital muscular dystrophy.
Jędrzejowska M, Potulska-Chromik A, Gos M, Gambin T, Dębek E, Rosiak E, Stępień A, Szymańczak R, Wojtaś B, Gielniewski B, Ciara E, Sobczyńska A, Chrzanowska K, Kostera-Pruszczyk A, Madej-Pilarczyk A
Eur J Paediatr Neurol 2021 May;32:115-121. Epub 2021 Apr 20 doi: 10.1016/j.ejpn.2021.04.005. PMID: 33940562
Single nucleotide polymorphism array analysis uncovers a large, novel duplication in Xq13.1 in a floppy infant syndrome patient.
Liu M, Wang Y, Yang S, Wei H, Tuo M, Chang F, Wang Y
Int J Dev Neurosci 2019 May;74:56-60. Epub 2018 Sep 12 doi: 10.1016/j.ijdevneu.2018.09.004. PMID: 30217625
Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations.
Schara U, Barisic N, Deschauer M, Lindberg C, Straub V, Strigl-Pill N, Wendt M, Abicht A, Müller JS, Lochmüller H
Neuromuscul Disord 2009 Dec;19(12):828-32. Epub 2009 Oct 17 doi: 10.1016/j.nmd.2009.09.008. PMID: 19837590
Dystrophin deficiency in a case of congenital myopathy.
Prelle A, Medori R, Moggio M, Chan HW, Gallanti A, Scarlato G, Bonilla E
J Neurol 1992 Feb;239(2):76-8. doi: 10.1007/BF00862976. PMID: 1552307
Obstetric analgesia: pharmacokinetics and its relation to neonatal behavioral and adaptive functions.
Kanto J, Erkkola R
Biol Res Pregnancy Perinatol 1984;5(1):23-35. PMID: 6142732

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