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Central apnea

MedGen UID:
854403
Concept ID:
C3887548
Disease or Syndrome
Synonym: Central apnoea
 
HPO: HP:0002871

Definition

Apnea resulting from depression of the respiratory centers in the medulla oblongata. There is a lack of respiratory effort rather than obstruction of airflow. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Central apnea

Conditions with this feature

Joubert syndrome 3
MedGen UID:
332931
Concept ID:
C1837713
Disease or Syndrome
Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.
Joubert syndrome 2
MedGen UID:
334114
Concept ID:
C1842577
Disease or Syndrome
Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.
Joubert syndrome 5
MedGen UID:
347545
Concept ID:
C1857780
Disease or Syndrome
Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.
Joubert syndrome 7
MedGen UID:
369401
Concept ID:
C1969053
Disease or Syndrome
Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.
Krabbe disease due to saposin A deficiency
MedGen UID:
392873
Concept ID:
C2673266
Disease or Syndrome
Disease caused by homozygous mutation in the prosaposin gene (PSAP) on chromosome 10q22. The disease is genetically distinct from Krabbe disease. Clinical features include onset in infancy with respiratory and neurologic involvement.
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
MedGen UID:
393098
Concept ID:
C2674173
Congenital Abnormality
SADDAN dysplasia (severe achondroplasia with developmental delay and acanthosis nigricans) is a very rare skeletal dysplasia characterized by the constellation of these features. Radiology reveals 'ram's horn' shaped clavicles and reverse bowing of lower limbs. Approximately half of patients die before the fourth week of life secondary to respiratory failure (summary by Zankl et al., 2008).
Hereditary spastic paraplegia 49
MedGen UID:
762260
Concept ID:
C3542549
Disease or Syndrome
TECPR2-related hereditary sensory and autonomic neuropathy with intellectual disability (TECPR2-HSAN with ID) is characterized by developmental delay and subsequent intellectual disability, behavioral abnormalities, neurologic manifestations (muscular hypotonia, sensory neuropathy with lower-limb hypo- or areflexia and ataxic gait), and autonomic dysfunction (including central hypoventilation and apnea, gastrointestinal dysmotility, dysphagia, and gastroesophageal reflux disease with recurrent aspiration). To date, more than 30 individuals with TECPR2-HSAN with ID have been identified.
Mitochondrial complex III deficiency nuclear type 2
MedGen UID:
767519
Concept ID:
C3554605
Disease or Syndrome
Mitochondrial complex III deficiency nuclear type 2 is an autosomal recessive severe neurodegenerative disorder that usually presents in childhood, but may show later onset, even in adulthood. Affected individuals have motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain. Most patients also have cognitive impairment and axonal neuropathy and become severely disabled later in life (summary by Ghezzi et al., 2011). The disorder may present clinically as spinocerebellar ataxia or Leigh syndrome, or with psychiatric disturbances (Morino et al., 2014; Atwal, 2014; Nogueira et al., 2013). For a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 (124000).
Joubert syndrome 1
MedGen UID:
1644883
Concept ID:
C4551568
Disease or Syndrome
Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.
Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant
MedGen UID:
1648362
Concept ID:
C4749003
Disease or Syndrome
SMALED2B is a severe neuromuscular disorder with onset in utero. Affected individuals show decreased fetal movements and are usually born with congenital contractures consistent with arthrogryposis multiplex congenita (AMC). After birth, they have severe hypotonia and muscle atrophy as well as respiratory insufficiency due to muscle weakness. Some patients may have dysmorphic facial features and/or abnormalities on brain imaging. Many patients die in early childhood (summary by Storbeck et al., 2017) For discussion of genetic heterogeneity of lower extremity-predominant spinal muscular atrophy, see SMALED1 (158600).
Developmental and epileptic encephalopathy 99
MedGen UID:
1794228
Concept ID:
C5562018
Disease or Syndrome
Developmental and epileptic encephalopathy-99 (DEE99) is characterized by onset of seizures in early childhood associated with global developmental delay and severely impaired intellectual development. Other features may include hypotonia, quadriparesis, nystagmus, and apnea. Brain imaging may be normal or show nonspecific and variable abnormalities, including cerebral atrophy and polymicrogyria. The severity is variable; some patients die of refractory status epilepticus (summary by Vetro et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.

Professional guidelines

PubMed

Zeineddine S, Badr MS
Chest 2021 Jun;159(6):2449-2457. Epub 2021 Jan 23 doi: 10.1016/j.chest.2021.01.036. PMID: 33497650Free PMC Article
Berry RB, Budhiraja R, Gottlieb DJ, Gozal D, Iber C, Kapur VK, Marcus CL, Mehra R, Parthasarathy S, Quan SF, Redline S, Strohl KP, Davidson Ward SL, Tangredi MM; American Academy of Sleep Medicine
J Clin Sleep Med 2012 Oct 15;8(5):597-619. doi: 10.5664/jcsm.2172. PMID: 23066376Free PMC Article
Eckert DJ, Jordan AS, Merchia P, Malhotra A
Chest 2007 Feb;131(2):595-607. doi: 10.1378/chest.06.2287. PMID: 17296668Free PMC Article

Recent clinical studies

Etiology

Roberts EG, Raphelson JR, Orr JE, LaBuzetta JN, Malhotra A
Curr Neurol Neurosci Rep 2022 Jul;22(7):405-412. Epub 2022 May 19 doi: 10.1007/s11910-022-01199-2. PMID: 35588042Free PMC Article
Barbieri F, Adukauskaite A, Heidbreder A, Brandauer E, Bergmann M, Stefani A, Holzknecht E, Senoner T, Rubatscher A, Schgör W, Stühlinger M, Pfeifer BE, Bauer A, Hintringer F, Högl B, Dichtl W
Am J Cardiol 2021 Jan 15;139:97-104. Epub 2020 Sep 28 doi: 10.1016/j.amjcard.2020.09.027. PMID: 33002463
Javaheri S, Dempsey JA
Compr Physiol 2013 Jan;3(1):141-63. doi: 10.1002/cphy.c110057. PMID: 23720283
Cereda A, Carey JC
Orphanet J Rare Dis 2012 Oct 23;7:81. doi: 10.1186/1750-1172-7-81. PMID: 23088440Free PMC Article
Eckert DJ, Jordan AS, Merchia P, Malhotra A
Chest 2007 Feb;131(2):595-607. doi: 10.1378/chest.06.2287. PMID: 17296668Free PMC Article

Diagnosis

Ginter G, Badr MS
Handb Clin Neurol 2022;189:93-103. doi: 10.1016/B978-0-323-91532-8.00011-2. PMID: 36031317
Javaheri S, Dempsey JA
Compr Physiol 2013 Jan;3(1):141-63. doi: 10.1002/cphy.c110057. PMID: 23720283
Cereda A, Carey JC
Orphanet J Rare Dis 2012 Oct 23;7:81. doi: 10.1186/1750-1172-7-81. PMID: 23088440Free PMC Article
Berry RB, Budhiraja R, Gottlieb DJ, Gozal D, Iber C, Kapur VK, Marcus CL, Mehra R, Parthasarathy S, Quan SF, Redline S, Strohl KP, Davidson Ward SL, Tangredi MM; American Academy of Sleep Medicine
J Clin Sleep Med 2012 Oct 15;8(5):597-619. doi: 10.5664/jcsm.2172. PMID: 23066376Free PMC Article
Kryger MH
Arch Intern Med 1982 Oct;142(10):1793-4. PMID: 7125764

Therapy

Barbieri F, Adukauskaite A, Heidbreder A, Brandauer E, Bergmann M, Stefani A, Holzknecht E, Senoner T, Rubatscher A, Schgör W, Stühlinger M, Pfeifer BE, Bauer A, Hintringer F, Högl B, Dichtl W
Am J Cardiol 2021 Jan 15;139:97-104. Epub 2020 Sep 28 doi: 10.1016/j.amjcard.2020.09.027. PMID: 33002463
Somers V, Arzt M, Bradley TD, Randerath W, Tamisier R, Won C
Chest 2018 Jun;153(6):1501-1502. doi: 10.1016/j.chest.2018.03.052. PMID: 29884256
Van Ryswyk E, Antic NA
Chest 2016 Oct;150(4):934-944. Epub 2016 Jun 1 doi: 10.1016/j.chest.2016.05.022. PMID: 27262224
White DP
Med Clin North Am 1985 Nov;69(6):1205-19. doi: 10.1016/s0025-7125(16)30983-x. PMID: 3934482
Kryger MH
Arch Intern Med 1982 Oct;142(10):1793-4. PMID: 7125764

Prognosis

Abushahin A, Al-Naimi A, Abu-Hasan M, Arar R, Lina Hayati M, Belavendra A, Janahi IA
Can Respir J 2023;2023:9992668. Epub 2023 Oct 26 doi: 10.1155/2023/9992668. PMID: 37927914Free PMC Article
Barbieri F, Adukauskaite A, Heidbreder A, Brandauer E, Bergmann M, Stefani A, Holzknecht E, Senoner T, Rubatscher A, Schgör W, Stühlinger M, Pfeifer BE, Bauer A, Hintringer F, Högl B, Dichtl W
Am J Cardiol 2021 Jan 15;139:97-104. Epub 2020 Sep 28 doi: 10.1016/j.amjcard.2020.09.027. PMID: 33002463
Somboon T, Grigg-Damberger MM, Foldvary-Schaefer N
Chest 2019 Jul;156(1):172-181. Epub 2019 Jan 31 doi: 10.1016/j.chest.2019.01.016. PMID: 30711481
Cereda A, Carey JC
Orphanet J Rare Dis 2012 Oct 23;7:81. doi: 10.1186/1750-1172-7-81. PMID: 23088440Free PMC Article
Duncan S, Brodie MJ
Epilepsy Behav 2011 Aug;21(4):344-51. Epub 2011 Jun 12 doi: 10.1016/j.yebeh.2011.04.056. PMID: 21665551

Clinical prediction guides

Abushahin A, Al-Naimi A, Abu-Hasan M, Arar R, Lina Hayati M, Belavendra A, Janahi IA
Can Respir J 2023;2023:9992668. Epub 2023 Oct 26 doi: 10.1155/2023/9992668. PMID: 37927914Free PMC Article
Ghirardo S, Amaddeo A, Griffon L, Khirani S, Fauroux B
J Sleep Res 2021 Dec;30(6):e13388. Epub 2021 Jun 2 doi: 10.1111/jsr.13388. PMID: 34075643Free PMC Article
Barbieri F, Adukauskaite A, Heidbreder A, Brandauer E, Bergmann M, Stefani A, Holzknecht E, Senoner T, Rubatscher A, Schgör W, Stühlinger M, Pfeifer BE, Bauer A, Hintringer F, Högl B, Dichtl W
Am J Cardiol 2021 Jan 15;139:97-104. Epub 2020 Sep 28 doi: 10.1016/j.amjcard.2020.09.027. PMID: 33002463
Somboon T, Grigg-Damberger MM, Foldvary-Schaefer N
Chest 2019 Jul;156(1):172-181. Epub 2019 Jan 31 doi: 10.1016/j.chest.2019.01.016. PMID: 30711481
Borrelli C, Aimo A, Mirizzi G, Passino C, Vergaro G, Emdin M, Giannoni A
Expert Rev Cardiovasc Ther 2017 Oct;15(10):743-755. Epub 2017 Aug 23 doi: 10.1080/14779072.2017.1364626. PMID: 28777017

Recent systematic reviews

Almutairi N, Alshareef W, Almakoshi L, Zakzouk A, Aljasser A, Alammar A
Eur Arch Otorhinolaryngol 2023 Dec;280(12):5205-5217. Epub 2023 Aug 29 doi: 10.1007/s00405-023-08202-7. PMID: 37642712
Sagalow ES, Ananth A, Alapati R, Fares E, Fast Z
Am J Cardiol 2022 Oct 1;180:155-162. Epub 2022 Jul 30 doi: 10.1016/j.amjcard.2022.06.038. PMID: 35918232
Bordier P, Lataste A, Hofmann P, Robert F, Bourenane G
Sleep Med 2016 Jan;17:149-57. Epub 2015 Dec 2 doi: 10.1016/j.sleep.2015.10.017. PMID: 26847991
Beck J, Emeriaud G, Liu Y, Sinderby C
Minerva Anestesiol 2016 Aug;82(8):874-83. Epub 2015 Sep 16 PMID: 26375790
Reddy R, Adamo D, Kufel T, Porhomayon J, El-Solh AA
J Opioid Manag 2014 Jan-Feb;10(1):57-62. doi: 10.5055/jom.2014.0192. PMID: 24604570

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