Familial laryngeal paralysis

Manaligod, José R.; Smith, Richard J.H.

doi:10.1002/(sici)1096-8628(19980526)77:4<277::aid-ajmg5>3.0.co;2-k

Cited by 17 publications

(10 citation statements)

References 21 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…This conclusion agrees with the conclusion of Berkowitz, who suggested that the cause of abCBILP might be an imbalance between abductor and adductor laryngeal muscles. Specifically, lesions of the nucleus ambiguous (anoxic, genetic) and a maturity delay in the motor unit might cause abCBILP …”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Prognosis of congenital idiopathic abductor laryngeal paralysis with laryngeal electromyography

Giotakis

Pototschnig

2019

The Laryngoscope

View full text Add to dashboard Cite

Objective To assess if laryngeal electromyography could provide additional information in the prognosis of congenital bilateral idiopathic abductor vocal cord paralysis (abCBILP). Methods We performed a retrospective review over a 23‐year period (1995–2018) of all children younger than 13 years old in the Medical University of Innsbruck. Results We identified five infants with abCBILP. Fiberoptic laryngeal endoscopy revealed bilateral vocal cord immobility in adduction without accompanying laryngeal findings. Tracheostomy rate was 100%. Tracheostomy was performed after minimum 3 weeks of non‐improvement with continuous positive airway pressure treatment or intubation. In all patients, repeated laryngeal electromyography revealed volitional activity. All patients showed excellent full late recovery in the second quinquennium of life. Conclusion Presence of volitional activity in laryngeal electromyography could identify patients with excellent prognosis. Prospective laryngeal electromyography studies are required in more patients with abCBILP in order to document laryngeal electromyography findings also by patients with poor late recovery. Patients with poor prognosis could be selected for early laryngeal intervention to avoid tracheostomy‐dependent issues. Level of Evidence 4 Laryngoscope, 130:E252–E257, 2020

show abstract

Section: Discussionmentioning

confidence: 99%

“…Specifically, lesions of the nucleus ambiguous (anoxic, genetic) and a maturity delay in the motor unit might cause abCBILP. [31][32][33][34]…”

Section: Discussionmentioning

confidence: 99%

Prognosis of congenital idiopathic abductor laryngeal paralysis with laryngeal electromyography

Giotakis

Pototschnig

2019

The Laryngoscope

View full text Add to dashboard Cite

show abstract

“…Very rarely, there is a clear pattern of familial transmission of laryngeal paralysis indicating that genetic factors play an important role in the development of normal laryngeal neuromuscular function. 2 Plott originally described familial bilateral abductor vocal fold paralysis in 1964. He reported three brothers with permanent congenital laryngeal abductor paralysis and mental retardation consistent with X-linked recessive inheritance.…”

Section: Discussionmentioning

confidence: 99%

Familial vocal fold paralysis

et al. 2002

View full text Add to dashboard Cite

Familial clustering of congenital bilateral abductor vocal fold paralysis has been reported very rarely. So far, only a handful of cases have been reported, mostly with the autosomal dominant of X-linked recessive mode of inheritance. We describe the cases of a brother and sister, who presented with neonatal stridor due to bilateral abductor vocal fold paralysis. First-degree parental consanguinity suggests an autosomal recessive mode of inheritance. Karyotype analysis revealed a paracentric balanced inversion of chromosome 13 in both cases, that was also present in the unaffected mother. An updated review of the literature on this interesting but rare condition is also presented.

show abstract

“…The family we studied displayed a dominantly inherited form of congenital laryngeal abduction paralysis, as previously described in a report by Manaligod and Smith. 7 In summary, 3 individuals in this family were identified who required tracheostomy soon after birth for bilateral vocal fold abductor paralysis. The propositus (individual 40) had absence of abduction of the vocal folds documented clinically and by laryngeal electromyography.…”

Section: Patients and Clinical Detailsmentioning

confidence: 99%

“…11,12 A second syndrome, Gerhardt syndrome, is a form of FLAP with autosomal dominant inheritance and variable penetrance and expressivity (Gerhardt syndrome, OMIM 150260). [13][14][15][16] Although mental retardation is not a common feature, 7 subtle central neurologic abnormalities can be demonstrated in some kindreds. 15 The finding of additional neurologic deficits and other malformations in conjunction with laryngeal abductor paralysis is common.…”

Section: Commentmentioning

confidence: 99%