Anesthetic Management of a Ventilator-Dependent Parturient With the King-Denborough Syndrome

Habib, A. S.; Millar, Simon; Muir, Holly A.

doi:10.1097/00000542-200204001-00054

Cited by 2 publications

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“…Furthermore, neonatal respiratory failure requiring tracheostomy tube placement has been described in a few cases. 4,9 In line with the literature, 75% (3 out of 4) of the adult patients in our Saudi cohort required noninvasive respiratory support. In addition to muscle weakness, progressive scoliosis contributes to respiratory muscle weakness, leading to restrictive lung disease.…”

Section: Clinical Phenotypesupporting

confidence: 81%

Why Craniofacial Surgeons/Researchers Need to be Aware of Native American Myopathy?

Almomen,

Burgon

2024

Neuropediatrics

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Congenital Myopathy type 13, also known as Native American Myopathy (NAM), is a rare muscle disease characterized by early-onset hypotonia, muscle weakness, delayed motor milestones, and susceptibility to malignant hyperthermia. The phenotypic spectrum of Congenital Myopathy type 13 is expanding, with milder forms reported in non-native American patients. The first description of the disease dates to 1987 when Bailey and Block described an infant belonging to a Native American tribe with cleft palate, micrognathia, arthrogryposis, and general-anesthesia-induced malignant hyperthermia reaction; the cause of the latter remains poorly defined in this rare disease. The pan-ethnic distribution, as well as its predisposition to malignant hyperthermia, makes the identification of CMYO13 essential to avoid life-threatening, anaesthesia-related complications. In this article, we are going to review the clinical phenotype of this disease and the pathophysiology of this rare disease with a focus on two unique features of the disease: namely, cleft palate and malignant hyperthermia. We also highlight the importance of recognizing this disease's expanding phenotypic spectrum - including its susceptibility to malignant hyperthermia- and providing appropriate care to affected individuals and families.

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Section: Clinical Phenotypesupporting

confidence: 81%

Why Craniofacial Surgeons/Researchers Need to be Aware of Native American Myopathy?

Almomen,

Burgon

2024

Neuropediatrics

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“…Though clinical presentation of NAM is relatively heterogenous, some other typical features Supplemental data at www.neurology.org of NAM include muscle wasting and kyphoscoliosis secondary to congenital weakness, contractures, cleft palate, abnormal facies with ptosis and low-set ears, and talipes deformity. [3][4][5][6][7] The Lumbee population is a relatively isolated population that is considered inbred based on a few common surnames and evidence of consanguinity within families. NAM pedigrees suggest an autosomal recessive pattern of inheritance, and clinical documentation in a few families shows unaffected parents having more than one child with NAM.…”

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confidence: 99%

Novel congenital myopathy locus identified in Native American Indians at 12q13.13-14.1

et al. 2008

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Anesthetic Management of a Ventilator-Dependent Parturient With the King-Denborough Syndrome

Cited by 2 publications

References 0 publications

Why Craniofacial Surgeons/Researchers Need to be Aware of Native American Myopathy?

Why Craniofacial Surgeons/Researchers Need to be Aware of Native American Myopathy?

Novel congenital myopathy locus identified in Native American Indians at 12q13.13-14.1

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