Health

King-Denborough Syndrome (KDS): Symptoms, Diagnosis, Treatment


Published: 2014-07-09 years Updated: 2021-08-30
Author: Thomas C. Weiss | Contact: Disabled-World.com
Peer-reviewed publications: N / A
Move in: Main announcement | Publications

Summary: Information regarding KDS, a rare and life-threatening condition resulting from an often hereditary reaction to exposure to general anesthetics and components of volatile and drug-like anesthetics. Only a doctor can make a full diagnosis of any symptoms or signs or whether they are actual symptoms or signs of KDS. The incidence of KDS is particularly rare. Be aware that, ‘KDS syndrome symptoms’, which usually refer to some symptom that a person is not aware of, ‘KDS syndrome signs’, can refer to signs that only The doctor just noticed.

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Main announcement

King-Denborough syndrome is a congenital myopathy associated with susceptibility to malignant hyperthermia, skeletal abnormalities, and dysfunctional features with a characteristic facial expression. ryanodine receptor (RYR1) gene, which is associated with malignant hyperthermia and central core disease. (2)

  • (1) Reed UC, Resende MB, Ferreira LG, Carvalho MS, Diament A, Scaff M, Marie SK. King-Denborough syndrome: report of two cases in Brazil. Arq Neuropsiquiatr. 2002 year; www.ncbi.nlm.nih.gov/pubmed/12364941. Retrieved February 10, 2013.
  • (2) D’Arcy CE, Bjorksten A, Yiu EM, Bankier A, Gillies R, McLean CA, Shield LK, Ryan MM. King-Denborough syndrome is caused by a novel mutation in the Ryanodine Receptor gene. Neurology. 2008.

King-Denborough syndrome (KDS), first described in 1973. KDS is a rare condition characterized by the triad of dysfunction, malignant hyperthermia (MHS) and muscle disease. Some individuals with this syndrome have reported autosomal dominant inheritance with variable expression. Mutations in the ryanodine receptor (RYR1) gene of a person’s skeletal muscle are associated with a range of myopathies such as central core disease (CCD), susceptibility trait for malignant hyperthermia (MH), and a people with KDS.

KDS is a term used to refer to a combination of characteristics of people with malignant hyperthermia. KDS is usually a genetic reaction to exposure to general anesthetics and to volatile and drug-like anesthetics thereof. KDS is a rare and life-threatening condition.

Malignant hyperthermia is an autosomal dominant disorder that is often also inherited. MH is genetically related to CCD, another autosomal dominant disorder, notable for its symptoms and neuromuscular disease leading to muscle weakness in affected individuals. Exposure to this drug can lead to circulatory failure in a person. Even worse, a person can die if they don’t get treatment.

Symptoms and signs of KDS

The list of symptoms and signs mentioned in several KDS sources includes a number of different signs. Symptoms and signs of the syndrome may include the following:

  • Small jaws
  • Pigeon’s chest
  • Short stature
  • Kyphoscoliosis
  • Narrow eyes
  • Hidden testicles
  • Upper eyelid drooping
  • Malignant hyperthermia
  • Underdeveloped cheekbones
  • Slow motor development
  • Downward slant space between eyelids

Be aware that, ‘KDS syndrome symptoms’, which usually refer to some symptom that a person is not aware of, ‘KDS syndrome signs’, can refer to signs that only The doctor just noticed.

Diagnosis of KDS

The symptoms and signs of KDS can vary, depending on the person. Only a doctor can make a full diagnosis of any symptoms or signs or whether they are actual symptoms or signs of KDS. The incidence of KDS is particularly rare.

The disordered features of KDS can be identified when a person is in the neonatal period. KDS is usually detected when a person has malignant hyperthermia. The risk factors for KDS are discrete. More men are affected than women by a ratio of 5:1.

Good KDS, ‘King-Denborough Syndrome’, was first described by JO King and MA Denborough. There are at least five features that distinguish KDS from Noonan syndrome. KDS is associated with muscle weakness and occurs sporadically, but without intellectual disability, congenital heart disease, or webbed neck.

King-Denborough syndrome has an unknown etiology. There may be elevated serum creatine kinase (CK) levels in family members with KDS, which may increase the risk of malignant hyperthermia in those family members. The King-Denborough syndrome phenotype also exhibits several clinical features including:

  • Contract
  • Normal intelligence
  • Mid-face hypoplasia
  • Malignant hyperthermia
  • Kyphoscoliosis and/or tinea versicolor
  • Muscle weakness, both mild and progressive

The King-Denborough syndrome phenotype shares some clinical features with Noonan syndrome. These clinical features include:

Clinical features of KDS phenotype Same as Noonan syndrome
Eyelid drooping
Low ears
Micrognathia
Short stature
Scrotum lack of testicles
Pectus carinatum
Transient total motor delay
Spinal fissure tilted down

The investigation of whether a person has KDS may include a muscle biopsy. Biopsy can include areas of degeneration and fat infiltration in certain muscle groups of a person. Biopsy to look for elevated phospholipase A activity.

Management of KDS

KDS management includes medical support and assistance. From a support point of view, orthopedic, pediatric, and metabolic health workers can be involved in a person’s care. The physical therapy department and its staff can also assist a person with KDS with the muscle weakness they experience. From a strictly medical point of view, a person with KDS needs to be injected with the drug ‘dantrolene’ to treat malignant hyperthermia. A person with KDS can live an average life expectancy if they avoid malignant hyperthermia.

Treatment of King-Denborough syndrome

Current treatment includes intravenous injection of Dantrolene; Temporarily discontinue exposure to triggers and support therapy to correct hyperthermia, organ dysfunction, and acidosis.

Author credentials:

Thomas C. Weiss is a researcher and editor for Disabled World. Thomas attended college and university courses for a Master’s, Bachelor’s and two Associate’s degrees, as well as studying Disability Studies. As a Nursing Assistant, Thomas has supported people of many racial, religious, gender, class and age groups by providing care to people with all forms of disabilities. disability from Multiple Sclerosis to Parkinson’s; paralysis and quadriplegia for spina bifida.

Disability World is an independent disability community founded in 2004 to provide disability news and information to people with disabilities, seniors, their families and/or carers. . Check out our homepage for helpful news, reviews, sports, stories and guides. You can also connect with us on Twitter and Facebook or learn more about Disability World on our about us page.

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Disability World provides general information only. The documents presented are never meant to be a substitute for the professional medical care of a qualified physician, and they should not be construed as such. Financial assistance is obtained from advertisements or referral programs, if specified. Any 3rd party offers or advertisements do not constitute an endorsement.


Citation of this Page (APA): Thomas C. Weiss. (2014, July 9). King-Denborough Syndrome (KDS): Symptoms, Diagnosis, Treatment. The world of people with disabilities. Accessed October 28, 2022 from www.disabled-world.com/health/kds.php

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