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Inspiratory stridor

MedGen UID:
146165
Concept ID:
C0677600
Sign or Symptom
SNOMED CT: Inspiratory stridor (58596002)
 
HPO: HP:0005348

Definition

Inspiratory stridor is a high pitched sound upon inspiration that is generally related to laryngeal abnormalities. [from HPO]

Conditions with this feature

Paramyotonia congenita of Von Eulenburg
MedGen UID:
113142
Concept ID:
C0221055
Disease or Syndrome
Paramyotonia congenita (PMC) is an autosomal dominant myotonic disorder characterized by cold-induced prolonged localized muscle contraction and weakness. Patients may experience episodes of generalized weakness (periodic paralysis) unassociated with cold exposure (summary by Ptacek et al., 1992).
Chiari type II malformation
MedGen UID:
108222
Concept ID:
C0555206
Congenital Abnormality
Chiari malformation type II (CM2), also known as the Arnold-Chiari malformation, consists of elongation and descent of the inferior cerebellar vermis, cerebellar hemispheres, pons, medulla, and fourth ventricle through the foramen magnum into the spinal canal. CM2 is uniquely associated with myelomeningocele (open spina bifida; see 182940) and is found only in this population (Stevenson, 2004). It is believed to be a disorder of neuroectodermal origin (Schijman, 2004). For a general phenotypic description of the different forms of Chiari malformations, see Chiari malformation type I (CM1; 118420).
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).
D-2-hydroxyglutaric aciduria 1
MedGen UID:
463405
Concept ID:
C3152055
Disease or Syndrome
D-2-hydroxyglutaric aciduria is a neurometabolic disorder first described by Chalmers et al. (1980). Clinical symptoms include developmental delay, epilepsy, hypotonia, and dysmorphic features. Mild and severe phenotypes were characterized (van der Knaap et al., 1999). The severe phenotype is homogeneous and is characterized by early infantile-onset epileptic encephalopathy and, often, cardiomyopathy. The mild phenotype has a more variable clinical presentation. Genetic Heterogeneity of D-2-Hydroxyglutaric Aciduria D-2-hydroxyglutaric aciduria-2 (D2HGA2; 613657) is caused by heterozygous mutation in the mitochondrial isocitrate dehydrogenase-2 gene (IDH2; 147650) on chromosome 15q26.
Spondyloepiphyseal dysplasia, nishimura type
MedGen UID:
930816
Concept ID:
C4305147
Disease or Syndrome
The Nishimura type of spondyloepiphyseal dysplasia (SEDN) is characterized by disproportionate short stature with short limbs, small hands and feet, and midface hypoplasia with small nose. Radiologic hallmarks include mild spondylar dysplasia, delayed epiphyseal ossification of the hip and knee, and severe brachydactyly with cone-shaped phalangeal epiphyses (Grigelioniene et al., 2019).
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
MedGen UID:
1748867
Concept ID:
C5399977
Disease or Syndrome
Mitochondrial complex IV deficiency nuclear type 2 (MC4DN2) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms at birth or in the first weeks or months of life. Affected individuals have severe hypotonia, often associated with feeding difficulties and respiratory insufficiency necessitating tube feeding and mechanical ventilation. The vast majority of patients develop hypertrophic cardiomyopathy in the first days or weeks of life, which usually leads to death in infancy or early childhood. Patients also show neurologic abnormalities, including developmental delay, nystagmus, fasciculations, dystonia, EEG changes, and brain imaging abnormalities compatible with a diagnosis of Leigh syndrome (see 256000). There may also be evidence of systemic involvement with hepatomegaly and myopathy, although neurogenic muscle atrophy is more common and may resemble spinal muscular atrophy type I (SMA1; 253300). Serum lactate is increased, and laboratory studies show decreased mitochondrial complex IV protein and activity levels in various tissues, including heart and skeletal muscle. Most patients die in infancy of cardiorespiratory failure (summary by Papadopoulou et al., 1999). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.

Professional guidelines

PubMed

Sowa LE, Stillwell PC, Houin PR, Nguyen N, Prager JD, Wine T, Teynor NJ, Meier M, Hanson RB, Francom C, Gitomer SA
Int J Pediatr Otorhinolaryngol 2023 Jul;170:111600. Epub 2023 May 9 doi: 10.1016/j.ijporl.2023.111600. PMID: 37201337
Smith DK, McDermott AJ, Sullivan JF
Am Fam Physician 2018 May 1;97(9):575-580. PMID: 29763253
Carter J, Rahbar R, Brigger M, Chan K, Cheng A, Daniel SJ, De Alarcon A, Garabedian N, Hart C, Hartnick C, Jacobs I, Liming B, Nicollas R, Pransky S, Richter G, Russell J, Rutter MJ, Schilder A, Smith RJ, Strychowsky J, Ward R, Watters K, Wyatt M, Zalzal G, Zur K, Thompson D
Int J Pediatr Otorhinolaryngol 2016 Jul;86:256-61. Epub 2016 Apr 7 doi: 10.1016/j.ijporl.2016.04.007. PMID: 27107728

Recent clinical studies

Etiology

Sowa LE, Stillwell PC, Houin PR, Nguyen N, Prager JD, Wine T, Teynor NJ, Meier M, Hanson RB, Francom C, Gitomer SA
Int J Pediatr Otorhinolaryngol 2023 Jul;170:111600. Epub 2023 May 9 doi: 10.1016/j.ijporl.2023.111600. PMID: 37201337
Ngu CYV, Saniasiaya J, Kulasegarah J
BMJ Case Rep 2021 Sep 7;14(9) doi: 10.1136/bcr-2021-244012. PMID: 34493558Free PMC Article
Moreddu E, Montero M, Gilain L, Triglia JM, Nicollas R
Eur J Pediatr 2021 Apr;180(4):1177-1183. Epub 2020 Nov 2 doi: 10.1007/s00431-020-03858-3. PMID: 33140202
Carter J, Rahbar R, Brigger M, Chan K, Cheng A, Daniel SJ, De Alarcon A, Garabedian N, Hart C, Hartnick C, Jacobs I, Liming B, Nicollas R, Pransky S, Richter G, Russell J, Rutter MJ, Schilder A, Smith RJ, Strychowsky J, Ward R, Watters K, Wyatt M, Zalzal G, Zur K, Thompson D
Int J Pediatr Otorhinolaryngol 2016 Jul;86:256-61. Epub 2016 Apr 7 doi: 10.1016/j.ijporl.2016.04.007. PMID: 27107728
Amin MR, Isaacson G
Ann Otol Rhinol Laryngol 1997 Nov;106(11):887-90. doi: 10.1177/000348949710601101. PMID: 9373076

Diagnosis

Leonard JA, Reilly BK
Neoreviews 2021 Oct;22(10):e653-e659. doi: 10.1542/neo.22-10-e653. PMID: 34599063
Smith DK, McDermott AJ, Sullivan JF
Am Fam Physician 2018 May 1;97(9):575-580. PMID: 29763253
Bedwell J, Zalzal G
Semin Pediatr Surg 2016 Jun;25(3):119-22. Epub 2016 Feb 18 doi: 10.1053/j.sempedsurg.2016.02.004. PMID: 27301595
Carter J, Rahbar R, Brigger M, Chan K, Cheng A, Daniel SJ, De Alarcon A, Garabedian N, Hart C, Hartnick C, Jacobs I, Liming B, Nicollas R, Pransky S, Richter G, Russell J, Rutter MJ, Schilder A, Smith RJ, Strychowsky J, Ward R, Watters K, Wyatt M, Zalzal G, Zur K, Thompson D
Int J Pediatr Otorhinolaryngol 2016 Jul;86:256-61. Epub 2016 Apr 7 doi: 10.1016/j.ijporl.2016.04.007. PMID: 27107728
Skolnik N
J Fam Pract 1993 Aug;37(2):165-70. PMID: 8336098

Therapy

Gibson PG, McDonald VM, Granchelli A, Olin JT
J Allergy Clin Immunol Pract 2021 Nov;9(11):3868-3875. Epub 2021 Sep 4 doi: 10.1016/j.jaip.2021.08.028. PMID: 34492401
Smith DK, McDermott AJ, Sullivan JF
Am Fam Physician 2018 May 1;97(9):575-580. PMID: 29763253
Johnson DW
BMJ Clin Evid 2014 Sep 29;2014 PMID: 25263284Free PMC Article
Skolnik N
J Fam Pract 1993 Aug;37(2):165-70. PMID: 8336098
Grodin MA
J Emerg Med 1983;1(1):13-9. doi: 10.1016/0736-4679(83)90004-5. PMID: 6333447

Prognosis

Vorel ES, Mehta JJ, Russo ME, Muego MP, Borek RC, Kelly JA, Greenfield ME
Pediatrics 2022 Sep 1;150(3) doi: 10.1542/peds.2021-050751. PMID: 36017677
O'Connell Ferster AP, Shokri T, Carr M
Int J Pediatr Otorhinolaryngol 2018 Apr;107:6-9. Epub 2018 Feb 20 doi: 10.1016/j.ijporl.2018.01.027. PMID: 29501313
Burman J, Lukkarinen H, Elenius V, Remes S, Kuusela T, Jartti T
Clin Physiol Funct Imaging 2018 Jul;38(4):718-720. Epub 2017 Aug 7 doi: 10.1111/cpf.12458. PMID: 28782910
Daniel SJ
Paediatr Respir Rev 2006;7 Suppl 1:S260-3. Epub 2006 Jun 6 doi: 10.1016/j.prrv.2006.04.227. PMID: 16798587
Amin MR, Isaacson G
Ann Otol Rhinol Laryngol 1997 Nov;106(11):887-90. doi: 10.1177/000348949710601101. PMID: 9373076

Clinical prediction guides

Ivanov I, Pacheva I, Yordanova R, Sotkova I, Galabova F, Gaberova K, Panova M, Gheneva I, Tsvetanova T, Noneva K, Dimitrova D, Markov S, Sapundzhiev N, Bichev S, Savov A
CNS Neurol Disord Drug Targets 2023;22(2):207-214. doi: 10.2174/1871527321666220221100704. PMID: 35189806
Burman J, Lukkarinen H, Elenius V, Remes S, Kuusela T, Jartti T
Clin Physiol Funct Imaging 2018 Jul;38(4):718-720. Epub 2017 Aug 7 doi: 10.1111/cpf.12458. PMID: 28782910
Moore M, Little P
Cochrane Database Syst Rev 2011 Jun 15;2011(6):CD002870. doi: 10.1002/14651858.CD002870.pub3. PMID: 21678339Free PMC Article
Moore M, Little P
Cochrane Database Syst Rev 2006 Jul 19;(3):CD002870. doi: 10.1002/14651858.CD002870.pub2. PMID: 16855994
Amin MR, Isaacson G
Ann Otol Rhinol Laryngol 1997 Nov;106(11):887-90. doi: 10.1177/000348949710601101. PMID: 9373076

Recent systematic reviews

Lemke J, Schreiber MN, Henne-Bruns D, Cammerer G, Hillenbrand A
BMC Surg 2017 Nov 28;17(1):115. doi: 10.1186/s12893-017-0322-y. PMID: 29183351Free PMC Article
Johnson DW
BMJ Clin Evid 2014 Sep 29;2014 PMID: 25263284Free PMC Article
Moore M, Little P
Cochrane Database Syst Rev 2011 Jun 15;2011(6):CD002870. doi: 10.1002/14651858.CD002870.pub3. PMID: 21678339Free PMC Article
Moore M, Little P
Cochrane Database Syst Rev 2006 Jul 19;(3):CD002870. doi: 10.1002/14651858.CD002870.pub2. PMID: 16855994

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