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Diaphragmatic paralysis

MedGen UID:
1632032
Concept ID:
C4551685
Finding
Synonyms: Paralysed diaphragm; Paralysis of diaphragm; Paralyzed diaphragm
SNOMED CT: Paralysis of diaphragm (64228003); Diaphragmatic paralysis (64228003)
 
HPO: HP:0006597

Definition

The presence of a paralyzed diaphragm. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDiaphragmatic paralysis

Conditions with this feature

Glycogen storage disease, type II
MedGen UID:
5340
Concept ID:
C0017921
Disease or Syndrome
Pompe disease is classified by age of onset, organ involvement, severity, and rate of progression. Infantile-onset Pompe disease (IOPD; individuals with onset before age 12 months with cardiomyopathy) may be apparent in utero but more typically onset is at the median age of four months with hypotonia, generalized muscle weakness, feeding difficulties, failure to thrive, respiratory distress, and hypertrophic cardiomyopathy. Without treatment by enzyme replacement therapy (ERT), IOPD commonly results in death by age two years from progressive left ventricular outflow obstruction and respiratory insufficiency. Late-onset Pompe disease (LOPD; including: (a) individuals with onset before age 12 months without cardiomyopathy; and (b) all individuals with onset after age 12 months) is characterized by proximal muscle weakness and respiratory insufficiency; clinically significant cardiac involvement is uncommon.
Autosomal recessive distal spinal muscular atrophy 1
MedGen UID:
388083
Concept ID:
C1858517
Disease or Syndrome
Autosomal recessive distal hereditary motor neuronopathy-1 (HMNR1) is characterized by distal and proximal muscle weakness and diaphragmatic palsy that leads to respiratory distress. Without intervention, most infants with the severe form of the disease die before 2 years of age. Affected individuals present in infancy with inspiratory stridor, weak cry, recurrent bronchopneumonia, and swallowing difficulties. The disorder is caused by distal and progressive motor neuronopathy resulting in muscle weakness (summary by Perego et al., 2020). Genetic Heterogeneity of Autosomal Recessive Distal Hereditary Motor Neuronopathy See also HMNR2 (605726), caused by mutation in the SIGMAR1 gene (601978); HMNR3 (607088) (encompassing Harding HMN types III and IV), which maps to chromosome 11q13; HMNR4 (611067), caused by mutation in the PLEKHG5 gene (611101); HMNR5 (614881), caused by mutation in the DNAJB2 gene (604139); HMNR6 (620011), caused by mutation in the REEP1 gene (609139); HMNR7 (619216), caused by mutation in the VWA1 gene (611901); HMNR8 (618912), caused by mutation in the SORD gene (182500); HMNR9 (620402), caused by mutation in the COQ7 gene (601683); and HMRN10 (620542), caused by mutation in the VRK1 gene (602168).
Myofibrillar myopathy 6
MedGen UID:
414119
Concept ID:
C2751831
Disease or Syndrome
Myofibrillar myopathy-6 is an autosomal dominant severe neuromuscular disorder characterized by onset in the first decade of rapidly progressive generalized and proximal muscle weakness, respiratory insufficiency, cardiomyopathy, and skeletal deformities related to muscle weakness. Muscle biopsy shows fiber-type grouping, disruption of the Z lines, and filamentous inclusions, and sural nerve biopsy shows a neuropathy, often with giant axonal neurons. Most patients are severely affected by the second decade and need cardiac transplant, ventilation, and/or a wheelchair (summary by Jaffer et al., 2012). For a phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy (MFM), see MFM1 (601419).
MEGF10-related myopathy
MedGen UID:
482309
Concept ID:
C3280679
Disease or Syndrome
Congenital myopathy-10A (CMYP10A) is a severe autosomal recessive skeletal muscle disorder characterized by generalized hypotonia, respiratory insufficiency, and poor feeding apparent from birth. Decreased fetal movements may be observed. More variable features include high-arched palate, distal joint contractures, foot deformities, scoliosis, areflexia, and dysphagia. Many patients show eventration of the diaphragm. Affected individuals become ventilator-dependent in the first months or years of life and never achieve walking; many die in childhood (Logan et al., 2011). Patients with more damaging mutations in the MEGF10 gene, including nonsense or frameshift null mutations, show the more severe phenotype (CMYP10A), whereas those with missense mutations affecting conserved cysteine residues in the EGF-like domain show the less severe phenotype with later onset of respiratory failure and minicores on muscle biopsy (CMYP10B) (Croci et al., 2022). For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (117000).
Spinal muscular atrophy, distal, autosomal recessive, 6
MedGen UID:
1823974
Concept ID:
C5774201
Disease or Syndrome
Autosomal recessive distal hereditary motor neuronopathy-6 (HMNR6) is a neuromuscular disorder characterized by onset of distal muscle weakness in early infancy. Affected individuals often present at birth with distal joint contractures or foot deformities and show delayed motor development, often with inability to walk or frequent falls. Hypo- or hyperreflexia may be observed; limb muscle atrophy may also be present. Patients often show respiratory distress or diaphragmatic palsy. Electrophysiologic studies are consistent with a peripheral motor neuropathy without sensory involvement (Maroofian et al., 2019). For a discussion of genetic heterogeneity of autosomal recessive distal HMN, see HMNR1 (604320).

Professional guidelines

PubMed

Caleffi-Pereira M, Albuquerque ALP
J Bras Pneumol 2021 Oct 15;47(5):e20210310. doi: 10.36416/1806-3756/e20210310. PMID: 34669841Free PMC Article
Zhang YB, Wang X, Li SJ, Yang KM, Sheng XD, Yan J
Chin Med J (Engl) 2013 Nov;126(21):4083-7. PMID: 24229678
El Tantawy AE, Imam S, Shawky H, Salah T
World J Pediatr Congenit Heart Surg 2013 Jan;4(1):19-23. doi: 10.1177/2150135112454444. PMID: 23799750

Recent clinical studies

Etiology

Lampridis S, Pradeep IHDS, Billè A
Int J Med Robot 2022 Jun;18(3):e2368. Epub 2022 Jan 24 doi: 10.1002/rcs.2368. PMID: 35041770
Laghlam D, Lê MP, Srour A, Monsonego R, Estagnasié P, Brusset A, Squara P
J Cardiothorac Vasc Anesth 2021 Nov;35(11):3241-3247. Epub 2021 Feb 11 doi: 10.1053/j.jvca.2021.02.023. PMID: 33736912
Hosokawa T, Shibuki S, Tanami Y, Sato Y, Ko Y, Nomura K, Oguma E
Pediatr Int 2021 Aug;63(8):895-902. Epub 2021 Jun 27 doi: 10.1111/ped.14548. PMID: 33205590
O'Beirne SL, Chazen JL, Cornman-Homonoff J, Carey BT, Gelbman BD
Lung 2019 Dec;197(6):727-733. Epub 2019 Sep 18 doi: 10.1007/s00408-019-00271-y. PMID: 31535202
Marty P, Ferré F, Basset B, Marquis C, Bataille B, Chaubard M, Merouani M, Rontes O, Delbos A
J Anesth 2018 Jun;32(3):333-340. Epub 2018 Mar 6 doi: 10.1007/s00540-018-2477-9. PMID: 29511891

Diagnosis

Tingquist ND, Gillaspie EA
Thorac Surg Clin 2023 Feb;33(1):99-108. doi: 10.1016/j.thorsurg.2022.08.004. PMID: 36372538
Prada G, Vieillard-Baron A, Martin AK, Hernandez A, Mookadam F, Ramakrishna H, Diaz-Gomez JL
J Cardiothorac Vasc Anesth 2021 Jan;35(1):310-322. Epub 2019 Dec 5 doi: 10.1053/j.jvca.2019.11.051. PMID: 31883769
Gerard-Castaing N, Perrin T, Ohlmann C, Mainguy C, Coutier L, Buchs C, Reix P
Pediatr Pulmonol 2019 Sep;54(9):1367-1373. Epub 2019 Jun 18 doi: 10.1002/ppul.24383. PMID: 31211516
Nason LK, Walker CM, McNeeley MF, Burivong W, Fligner CL, Godwin JD
Radiographics 2012 Mar-Apr;32(2):E51-70. doi: 10.1148/rg.322115127. PMID: 22411950
Qureshi A
Semin Respir Crit Care Med 2009 Jun;30(3):315-20. Epub 2009 May 18 doi: 10.1055/s-0029-1222445. PMID: 19452391

Therapy

Gouveia de Melo ACM, van der Linden V, Serpa SC, Rolim Filho EL, Lins OG
J Clin Neurophysiol 2023 May 1;40(4):350-354. Epub 2021 Sep 6 doi: 10.1097/WNP.0000000000000893. PMID: 34510092
Laghlam D, Lê MP, Srour A, Monsonego R, Estagnasié P, Brusset A, Squara P
J Cardiothorac Vasc Anesth 2021 Nov;35(11):3241-3247. Epub 2021 Feb 11 doi: 10.1053/j.jvca.2021.02.023. PMID: 33736912
Gerard-Castaing N, Perrin T, Ohlmann C, Mainguy C, Coutier L, Buchs C, Reix P
Pediatr Pulmonol 2019 Sep;54(9):1367-1373. Epub 2019 Jun 18 doi: 10.1002/ppul.24383. PMID: 31211516
Marty P, Ferré F, Basset B, Marquis C, Bataille B, Chaubard M, Merouani M, Rontes O, Delbos A
J Anesth 2018 Jun;32(3):333-340. Epub 2018 Mar 6 doi: 10.1007/s00540-018-2477-9. PMID: 29511891
Podgaetz E, Diaz I, Andrade RS
Thorac Cardiovasc Surg 2016 Dec;64(8):631-640. Epub 2015 Dec 31 doi: 10.1055/s-0035-1570372. PMID: 26720705

Prognosis

Prada G, Vieillard-Baron A, Martin AK, Hernandez A, Mookadam F, Ramakrishna H, Diaz-Gomez JL
J Cardiothorac Vasc Anesth 2021 Jan;35(1):310-322. Epub 2019 Dec 5 doi: 10.1053/j.jvca.2019.11.051. PMID: 31883769
Goldberg L, Krauthammer A, Ashkenazi M, Soudack M, Tokatly Latzer I, Vardi A, Paret G
Pediatr Pulmonol 2020 Feb;55(2):449-454. Epub 2019 Oct 7 doi: 10.1002/ppul.24539. PMID: 31589009
Caggiano S, Khirani S, Dabaj I, Cavassa E, Amaddeo A, Arroyo JO, Desguerre I, Richard P, Cutrera R, Ferreiro A, Estournet B, Quijano-Roy S, Fauroux B
Neuromuscul Disord 2017 Aug;27(8):747-755. Epub 2017 Apr 26 doi: 10.1016/j.nmd.2017.04.010. PMID: 28606403
Podgaetz E, Diaz I, Andrade RS
Thorac Cardiovasc Surg 2016 Dec;64(8):631-640. Epub 2015 Dec 31 doi: 10.1055/s-0035-1570372. PMID: 26720705
Qureshi A
Semin Respir Crit Care Med 2009 Jun;30(3):315-20. Epub 2009 May 18 doi: 10.1055/s-0029-1222445. PMID: 19452391

Clinical prediction guides

Laghlam D, Lê MP, Srour A, Monsonego R, Estagnasié P, Brusset A, Squara P
J Cardiothorac Vasc Anesth 2021 Nov;35(11):3241-3247. Epub 2021 Feb 11 doi: 10.1053/j.jvca.2021.02.023. PMID: 33736912
Hosokawa T, Shibuki S, Tanami Y, Sato Y, Ko Y, Nomura K, Oguma E
Pediatr Int 2021 Aug;63(8):895-902. Epub 2021 Jun 27 doi: 10.1111/ped.14548. PMID: 33205590
Prada G, Vieillard-Baron A, Martin AK, Hernandez A, Mookadam F, Ramakrishna H, Diaz-Gomez JL
J Cardiothorac Vasc Anesth 2021 Jan;35(1):310-322. Epub 2019 Dec 5 doi: 10.1053/j.jvca.2019.11.051. PMID: 31883769
O'Beirne SL, Chazen JL, Cornman-Homonoff J, Carey BT, Gelbman BD
Lung 2019 Dec;197(6):727-733. Epub 2019 Sep 18 doi: 10.1007/s00408-019-00271-y. PMID: 31535202
Marty P, Ferré F, Basset B, Marquis C, Bataille B, Chaubard M, Merouani M, Rontes O, Delbos A
J Anesth 2018 Jun;32(3):333-340. Epub 2018 Mar 6 doi: 10.1007/s00540-018-2477-9. PMID: 29511891

Recent systematic reviews

Yekzaman BR, Minchew HM, Alvarado A, Ohiorhenuan I
World Neurosurg 2022 Nov;167:74-77. Epub 2022 Sep 8 doi: 10.1016/j.wneu.2022.09.009. PMID: 36089276
Casas-Arroyave FD, Ramírez-Mendoza E, Ocampo-Agudelo AF
Rev Esp Anestesiol Reanim (Engl Ed) 2021 Aug-Sep;68(7):392-407. Epub 2021 Jul 20 doi: 10.1016/j.redare.2020.10.003. PMID: 34294596
Monahan A, Guay J, Hajduk J, Suresh S
Anesth Analg 2019 Jan;128(1):130-136. doi: 10.1213/ANE.0000000000003831. PMID: 30300178

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