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Aspiration

MedGen UID:
751786
Concept ID:
C2712334
Finding
Synonyms: Aspiration into respiratory tract; Pulmonary aspiration
SNOMED CT: Aspiration into respiratory tract (413585005)
 
HPO: HP:0002835

Definition

Inspiration of a foreign object into the airway. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Aspiration

Conditions with this feature

Tay-Sachs disease
MedGen UID:
11713
Concept ID:
C0039373
Disease or Syndrome
HEXA disorders are best considered as a disease continuum based on the amount of residual beta-hexosaminidase A (HEX A) enzyme activity. This, in turn, depends on the molecular characteristics and biological impact of the HEXA pathogenic variants. HEX A is necessary for degradation of GM2 ganglioside; without well-functioning enzymes, GM2 ganglioside builds up in the lysosomes of brain and nerve cells. The classic clinical phenotype is known as Tay-Sachs disease (TSD), characterized by progressive weakness, loss of motor skills beginning between ages three and six months, decreased visual attentiveness, and increased or exaggerated startle response with a cherry-red spot observable on the retina followed by developmental plateau and loss of skills after eight to ten months. Seizures are common by 12 months with further deterioration in the second year of life and death occurring between ages two and three years with some survival to five to seven years. Subacute juvenile TSD is associated with normal developmental milestones until age two years, when the emergence of abnormal gait or dysarthria is noted followed by loss of previously acquired skills and cognitive decline. Spasticity, dysphagia, and seizures are present by the end of the first decade of life, with death within the second decade of life, usually by aspiration. Late-onset TSD presents in older teens or young adults with a slowly progressive spectrum of neurologic symptoms including lower-extremity weakness with muscle atrophy, dysarthria, incoordination, tremor, mild spasticity and/or dystonia, and psychiatric manifestations including acute psychosis. Clinical variability even among affected members of the same family is observed in both the subacute juvenile and the late-onset TSD phenotypes.
Tay-Sachs disease, variant AB
MedGen UID:
78657
Concept ID:
C0268275
Disease or Syndrome
Acute infantile GM2 activator deficiency is a neurodegenerative disorder in which infants, who are generally normal at birth, have progressive weakness and slowing of developmental progress between ages four and 12 months. An ensuing developmental plateau is followed by progressively rapid developmental regression. By the second year of life decerebrate posturing, difficulty in swallowing, and worsening seizures lead to an unresponsive vegetative state. Death usually occurs between ages two and three years.
DK1-congenital disorder of glycosylation
MedGen UID:
332072
Concept ID:
C1835849
Disease or Syndrome
DOLK-congenital disorder of glycosylation (DOLK-CDG, formerly known as congenital disorder of glycosylation type Im) is an inherited condition that often affects the heart but can also involve other body systems. The pattern and severity of this disorder's signs and symptoms vary among affected individuals.\n\nIndividuals with DOLK-CDG typically develop signs and symptoms of the condition during infancy or early childhood. Nearly all individuals with DOLK-CDG develop a weakened and enlarged heart (dilated cardiomyopathy). Other frequent signs and symptoms include recurrent seizures; developmental delay; poor muscle tone (hypotonia); and dry, scaly skin (ichthyosis). Less commonly, affected individuals can have distinctive facial features, kidney disease, hormonal abnormalities, or eye problems.\n\nIndividuals with DOLK-CDG typically do not survive into adulthood, often because of complications related to dilated cardiomyopathy, and some do not survive past infancy.
Cleft larynx, posterior
MedGen UID:
349091
Concept ID:
C1859083
Disease or Syndrome
X-linked Opitz G/BBB syndrome
MedGen UID:
424842
Concept ID:
C2936904
Disease or Syndrome
X-linked Opitz G/BBB syndrome (X-OS) is a multiple-congenital-anomaly disorder characterized by facial anomalies (hypertelorism, prominent forehead, widow's peak, broad nasal bridge, anteverted nares), genitourinary abnormalities (hypospadias, cryptorchidism, and hypoplastic/bifid scrotum), and laryngotracheoesophageal defects. Developmental delay and intellectual disability are observed in about 50% of affected males. Cleft lip and/or palate are present in approximately 50% of affected individuals. Other malformations (present in <50% of individuals) include congenital heart defects, imperforate or ectopic anus, and midline brain defects (Dandy-Walker malformation and agenesis or hypoplasia of the corpus callosum and/or cerebellar vermis). Wide clinical variability occurs even among members of the same family. Female heterozygotes usually manifest hypertelorism only.
Rett syndrome, congenital variant
MedGen UID:
462055
Concept ID:
C3150705
Disease or Syndrome
The congenital variant of Rett syndrome is a severe neurodevelopmental disorder with features of classic Rett syndrome (RTT; 312750), but earlier onset in the first months of life. Classic Rett syndrome shows later onset and is caused by mutation in the MECP2 gene (300005).
Ogden syndrome
MedGen UID:
477078
Concept ID:
C3275447
Disease or Syndrome
Ogden syndrome (OGDNS) is an X-linked neurodevelopmental disorder characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia. Many patients also have cardiac malformations or arrhythmias (summary by Popp et al., 2015).
Hereditary sensory and autonomic neuropathy type 6
MedGen UID:
761278
Concept ID:
C3539003
Disease or Syndrome
Hereditary sensory and autonomic neuropathy type VI (HSAN6) is a severe autosomal recessive disorder characterized by neonatal hypotonia, respiratory and feeding difficulties, lack of psychomotor development, and autonomic abnormalities including labile cardiovascular function, lack of corneal reflexes leading to corneal scarring, areflexia, and absent axonal flare response after intradermal histamine injection (summary by Edvardson et al., 2012). For a discussion of genetic heterogeneity of hereditary sensory and autonomic neuropathy, see HSAN1 (162400).
Pontine tegmental cap dysplasia
MedGen UID:
762040
Concept ID:
C3541340
Disease or Syndrome
Pontine tegmental cap dysplasia (PTCD) refers to a neurologic condition characterized by a distinct pattern of hindbrain malformations apparent on brain imaging. The abnormalities affect the pons, medulla, and cerebellum. In neuroradiologic studies, the ventral side of the pons is flattened, whereas there is vaulting ('capping') of the dorsal pontine border into the fourth ventricle. Affected individuals show a variety of neurologic deficits, most commonly sensorineural deafness, impaired cranial nerve function, and variable psychomotor retardation (summary by Barth et al., 2007).
Amyotrophic lateral sclerosis type 21
MedGen UID:
813851
Concept ID:
C3807521
Disease or Syndrome
Amyotrophic lateral sclerosis-21 (ALS21) is an autosomal dominant neurodegenerative disorder affecting upper and lower motor neurons, resulting in muscle weakness and respiratory failure. Some patients may develop myopathic features or dementia (summary by Johnson et al., 2014). For a discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 (105400).
Acrofacial dysostosis Cincinnati type
MedGen UID:
903483
Concept ID:
C4225317
Disease or Syndrome
The Cincinnati type of acrofacial dysostosis is a ribosomopathy characterized by a spectrum of mandibulofacial dysostosis phenotypes, with or without extrafacial skeletal defects (Weaver et al., 2015). In addition, a significant number of neurologic abnormalities have been reported, ranging from mild delays to refractory epilepsy, as well as an increased incidence of congenital heart defects, primarily septal in nature (Smallwood et al., 2023).
Developmental and epileptic encephalopathy, 38
MedGen UID:
934729
Concept ID:
C4310762
Disease or Syndrome
Developmental and epileptic encephalopathy-38 (DEE38) is an autosomal recessive neurologic and neurodegenerative disorder characterized by the onset of various type of seizures usually between about 4 and 7 months of age. Prior to the onset of seizures, most infants show severely impaired global development, hypotonia with poor head control, and visual inattention with roving eye movements and nystagmus. Seizures are usually refractory to treatment and associated with status epilepticus. Patients have little or no development with inability to walk or speak, spasticity or abnormal movements, and often cortical blindness. There is failure to thrive, and many require tube-feeding. Death in early childhood due to aspiration or intractable epilepsy may occur. The disorder is associated with a defect in GPI-anchoring of membrane-bound proteins (summary by Palmer et al., 2016; Davids et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).
Hyperekplexia 1
MedGen UID:
1647581
Concept ID:
C4551954
Disease or Syndrome
Hyperekplexia is an early-onset neurologic disorder characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli. Affected individuals have brief episodes of intense, generalized hypertonia in response to stimulation. Neonates may have prolonged periods of rigidity and are at risk for sudden death from apnea or aspiration. Many affected infants have inguinal hernias. The symptoms tend to resolve after infancy, but adults may have increased startle-induced falls and/or experience nocturnal muscle jerks (summary by Ryan et al., 1992). Genetic Heterogeneity of Hyperekplexia See also HKPX2 (614619), caused by mutation in the GLRB gene (138492) on chromosome 4q31; HKPX3 (614618), caused by mutation in the GLYT2 gene (SLC6A5; 604159) on chromosome 11p15; and HKPX4 (618011), caused by mutation in the ATAD1 gene (614452) on chromosome 10q23. Hyperekplexia can also occur in developmental and epileptic encephalopathy-8 (DEE8; 300607), caused by mutation in the ARHGEF9 gene (300429). See also sporadic stiff-man syndrome (184850) and the 'Jumping Frenchmen of Maine' (244100).
Oculopharyngodistal myopathy 1
MedGen UID:
1684682
Concept ID:
C5231388
Disease or Syndrome
Oculopharyngodistal myopathy-1 (OPDM1) is an autosomal dominant disorder characterized by adult-onset ptosis, external ophthalmoplegia, facial muscle weakness, distal limb muscle weakness and atrophy, and pharyngeal involvement, resulting in dysphagia and dysarthria. Skeletal muscle biopsy shows myopathic changes with rimmed vacuoles. There are variable manifestations of the disorder regarding muscle involvement and severity (summary by Ishiura et al., 2019). Genetic Heterogeneity of Oculopharyngodistal Myopathy See also OPDM2 (618940), caused by trinucleotide repeat expansion in the GIPC1 gene (605072) on chromosome 19p13; OPDM3 (619473), caused by trinucleotide repeat expansion in the NOTCH2NLC gene (618025) on chromosome 1q21; and OPDM4 (619790), caused by trinucleotide repeat expansion in the RILPL1 gene (614092) on chromosome 12q24. Oculopharyngeal muscular dystrophy (OPMD; 164300) is a similar disorder with overlapping features. It is caused by a similar heterozygous trinucleotide repeat expansion in the PABPN1 gene (602279) (summary by Durmus et al., 2011).
Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies
MedGen UID:
1684884
Concept ID:
C5231442
Disease or Syndrome
Halperin-Birk syndrome (HLBKS) is an autosomal recessive neurodevelopmental disorder characterized by structural brain defects, spastic quadriplegia with multiple contractures, profound developmental delay, seizures, dysmorphism, cataract, and optic nerve atrophy. Death occurs in early childhood (Halperin et al., 2019).
Neuromuscular disease and ocular or auditory anomalies with or without seizures
MedGen UID:
1684689
Concept ID:
C5231483
Disease or Syndrome
Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities
MedGen UID:
1708579
Concept ID:
C5394517
Disease or Syndrome
Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities (NEDSHBA) is an autosomal recessive neurodevelopmental disorder characterized by global developmental delay, severe to profound intellectual impairment, early-onset refractory seizures, hypotonia, failure to thrive, and progressive microcephaly. Brain imaging shows cerebral atrophy, thin corpus callosum, and myelination defects. Death in childhood may occur (summary by Marafi et al., 2020).
Neurodevelopmental disorder with hypotonia and dysmorphic facies
MedGen UID:
1794184
Concept ID:
C5561974
Disease or Syndrome
Neurodevelopmental disorder with hypotonia and dysmorphic facies (NEDHYDF) is characterized by global developmental delay and hypotonia apparent from birth. Affected individuals have variably impaired intellectual development, often with speech delay and delayed walking. Seizures are generally not observed, although some patients may have single seizures or late-onset epilepsy. Most patients have prominent dysmorphic facial features. Additional features may include congenital cardiac defects (without arrhythmia), nonspecific renal anomalies, joint contractures or joint hyperextensibility, dry skin, and cryptorchidism. There is significant phenotypic variability in both the neurologic and extraneurologic manifestations (summary by Tan et al., 2022).
Developmental and epileptic encephalopathy 100
MedGen UID:
1809351
Concept ID:
C5676932
Disease or Syndrome
Developmental and epileptic encephalopathy-100 (DEE100) is a severe neurologic disorder characterized by global developmental delay and onset of variable types of seizures in the first months or years of life. Most patients have refractory seizures and show developmental regression after seizure onset. Affected individuals have ataxic gait or inability to walk and severe to profoundly impaired intellectual development, often with absent speech. Additional more variable features may include axial hypotonia, hyperkinetic movements, dysmorphic facial features, and brain imaging abnormalities (summary by Schneider et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.

Professional guidelines

PubMed

Ohtsuka T, Fernandez-Del Castillo C, Furukawa T, Hijioka S, Jang JY, Lennon AM, Miyasaka Y, Ohno E, Salvia R, Wolfgang CL, Wood LD
Pancreatology 2024 Mar;24(2):255-270. Epub 2023 Dec 28 doi: 10.1016/j.pan.2023.12.009. PMID: 38182527
Durante C, Hegedüs L, Czarniecka A, Paschke R, Russ G, Schmitt F, Soares P, Solymosi T, Papini E
Eur Thyroid J 2023 Oct 1;12(5) Epub 2023 Aug 14 doi: 10.1530/ETJ-23-0067. PMID: 37358008Free PMC Article
Gaddey HL, Riegel AM
Am Fam Physician 2016 Dec 1;94(11):896-903. PMID: 27929264

Recent clinical studies

Etiology

Niederman MS, Cilloniz C
Rev Esp Quimioter 2022 Apr;35 Suppl 1(Suppl 1):73-77. Epub 2022 Apr 22 doi: 10.37201/req/s01.17.2022. PMID: 35488832Free PMC Article
Mandell LA, Niederman MS
N Engl J Med 2019 Feb 14;380(7):651-663. doi: 10.1056/NEJMra1714562. PMID: 30763196
Neill S, Dean N
Curr Opin Infect Dis 2019 Apr;32(2):152-157. doi: 10.1097/QCO.0000000000000524. PMID: 30676341
Van de Putte P, Perlas A
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Marik PE
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Diagnosis

McIntosh E
Home Healthc Now 2023 Jan-Feb 01;41(1):36-41. doi: 10.1097/NHH.0000000000001134. PMID: 36607208
Yoshimatsu Y, Melgaard D, Westergren A, Skrubbeltrang C, Smithard DG
Eur Geriatr Med 2022 Oct;13(5):1071-1080. Epub 2022 Aug 25 doi: 10.1007/s41999-022-00689-3. PMID: 36008745Free PMC Article
Niederman MS, Cilloniz C
Rev Esp Quimioter 2022 Apr;35 Suppl 1(Suppl 1):73-77. Epub 2022 Apr 22 doi: 10.37201/req/s01.17.2022. PMID: 35488832Free PMC Article
Almirall J, Boixeda R, de la Torre MC, Torres A
Respir Med 2021 Aug-Sep;185:106485. Epub 2021 May 26 doi: 10.1016/j.rmed.2021.106485. PMID: 34087609
Neill S, Dean N
Curr Opin Infect Dis 2019 Apr;32(2):152-157. doi: 10.1097/QCO.0000000000000524. PMID: 30676341

Therapy

Wang Q, Peng Y, Xu S, Lin L, Chen L, Lin Y
Eur J Med Res 2023 Mar 14;28(1):120. doi: 10.1186/s40001-023-01076-9. PMID: 36915204Free PMC Article
Silva GS, Nogueira RG
Continuum (Minneap Minn) 2020 Apr;26(2):310-331. doi: 10.1212/CON.0000000000000852. PMID: 32224754
Turk AS 3rd, Siddiqui A, Fifi JT, De Leacy RA, Fiorella DJ, Gu E, Levy EI, Snyder KV, Hanel RA, Aghaebrahim A, Woodward BK, Hixson HR, Chaudry MI, Spiotta AM, Rai AT, Frei D, Almandoz JED, Kelly M, Arthur A, Baxter B, English J, Linfante I, Fargen KM, Mocco J
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Flynn E, Smith CH, Walsh CD, Walshe M
Cochrane Database Syst Rev 2018 Sep 24;9(9):CD011077. doi: 10.1002/14651858.CD011077.pub2. PMID: 30251253Free PMC Article
Brady M, Kinn S, Stuart P
Cochrane Database Syst Rev 2003;(4):CD004423. doi: 10.1002/14651858.CD004423. PMID: 14584013

Prognosis

Košutova P, Mikolka P
Physiol Res 2021 Dec 30;70(Suppl4):S567-S583. doi: 10.33549/physiolres.934767. PMID: 35199544Free PMC Article
Marvin S, Thibeault SL
Am J Speech Lang Pathol 2021 Nov 4;30(6):2554-2560. Epub 2021 Oct 7 doi: 10.1044/2021_AJSLP-20-00377. PMID: 34618595
Nordstrøm M, Retterstøl K, Hope S, Kolset SO
Lancet Child Adolesc Health 2020 Jun;4(6):455-464. doi: 10.1016/S2352-4642(19)30400-6. PMID: 32450124
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Wright TW, Cooney WP, Ilstrup DM
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Clinical prediction guides

Rekhi B, Qian X, Domanski HA, Klijanienko J, Field A
Cytopathology 2024 Jan;35(1):30-47. Epub 2023 Aug 7 doi: 10.1111/cyt.13282. PMID: 37548096
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Neurogastroenterol Motil 2019 Mar;31(3):e13524. Epub 2018 Dec 11 doi: 10.1111/nmo.13524. PMID: 30548367
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Recent systematic reviews

Gallo DM, Romero R, Bosco M, Gotsch F, Jaiman S, Jung E, Suksai M, Ramón Y Cajal CL, Yoon BH, Chaiworapongsa T
Am J Obstet Gynecol 2023 May;228(5S):S1158-S1178. Epub 2023 Apr 1 doi: 10.1016/j.ajog.2022.11.1283. PMID: 37012128Free PMC Article
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Eur Geriatr Med 2022 Oct;13(5):1071-1080. Epub 2022 Aug 25 doi: 10.1007/s41999-022-00689-3. PMID: 36008745Free PMC Article
Gigante A, Coppa V, Marinelli M, Giampaolini N, Falcioni D, Specchia N
Eur Rev Med Pharmacol Sci 2019 Apr;23(2 Suppl):145-158. doi: 10.26355/eurrev_201904_17484. PMID: 30977881
Van de Putte P, Perlas A
Br J Anaesth 2014 Jul;113(1):12-22. Epub 2014 Jun 3 doi: 10.1093/bja/aeu151. PMID: 24893784
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Stroke 2005 Dec;36(12):2756-63. Epub 2005 Nov 3 doi: 10.1161/01.STR.0000190056.76543.eb. PMID: 16269630

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