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Multiple pterygium-malignant hyperthermia syndrome

MedGen UID:
347490
•Concept ID:
C1857576
•
Disease or Syndrome
Synonyms: Contractures, congenital, torticollis, and malignant hyperthermia; Malignant hyperthermia arthrogryposis torticollis
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0009012
OMIM®: 217150
Orphanet: ORPHA2215

Definition

An extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988. [from ORDO]

Clinical features

From HPO
Torticollis
MedGen UID:
11859
•Concept ID:
C0040485
•
Sign or Symptom
Torticollis is a twisted neck as a result of shortening of sternocleidomastoid muscle. This short and fibrotic muscle pulls the head laterally and rotates the chin and face to the opposite end. Facial asymmetry may be a manifestation (summary by Engin et al., 1997).
See: Feature record | Search on this feature
Abnormal mandible morphology
MedGen UID:
871374
•Concept ID:
C4025870
•
Anatomical Abnormality
Any abnormality of the mandible, the bone of the lower jaw.
See: Feature record | Search on this feature
Arthrogryposis multiplex congenita
MedGen UID:
1830310
•Concept ID:
C5779613
•
Disease or Syndrome
Multiple congenital contractures in different body areas.
See: Feature record | Search on this feature
Malignant hyperthermia
MedGen UID:
1830388
•Concept ID:
C5779784
•
Pathologic Function
Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C. Malignant hyperthermia may occur in response to either inhalational anesthetics such as halothane, to muscle relaxants such as succinylcholine, or to exercise.
See: Feature record | Search on this feature
Natal tooth
MedGen UID:
10268
•Concept ID:
C0027443
•
Finding
A tooth present at birth or erupting within the first month of life.
See: Feature record | Search on this feature
Cleft palate
MedGen UID:
756015
•Concept ID:
C2981150
•
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Treatment of Dravet Syndrome.
Wirrell EC
Can J Neurol Sci 2016 Jun;43 Suppl 3:S13-8. doi: 10.1017/cjn.2016.249. PMID: 27264138
Serotonin toxicity: a practical approach to diagnosis and treatment.
Isbister GK, Buckley NA, Whyte IM
Med J Aust 2007 Sep 17;187(6):361-5. doi: 10.5694/j.1326-5377.2007.tb01282.x. PMID: 17874986
Diagnosis and management of acute movement disorders.
Dressler D, Benecke R
J Neurol 2005 Nov;252(11):1299-306. Epub 2005 Oct 10 doi: 10.1007/s00415-005-0006-x. PMID: 16208529

Recent clinical studies

Etiology

Non-pharmacological interventions for treating chronic prostatitis/chronic pelvic pain syndrome.
Franco JV, Turk T, Jung JH, Xiao YT, Iakhno S, Garrote V, Vietto V
Cochrane Database Syst Rev 2018 May 12;5(5):CD012551. doi: 10.1002/14651858.CD012551.pub3. PMID: 29757454Free PMC Article
Treatment of Dravet Syndrome.
Wirrell EC
Can J Neurol Sci 2016 Jun;43 Suppl 3:S13-8. doi: 10.1017/cjn.2016.249. PMID: 27264138
Malignant hyperthermia and muscular dystrophies.
Gurnaney H, Brown A, Litman RS
Anesth Analg 2009 Oct;109(4):1043-8. doi: 10.1213/ane.0b013e3181aa5cf6. PMID: 19762730
Rhabdomyolysis: an evaluation of 475 hospitalized patients.
Melli G, Chaudhry V, Cornblath DR
Medicine (Baltimore) 2005 Nov;84(6):377-385. doi: 10.1097/01.md.0000188565.48918.41. PMID: 16267412
Heatstroke.
Sucholeiki R
Semin Neurol 2005 Sep;25(3):307-14. doi: 10.1055/s-2005-917667. PMID: 16170743

Diagnosis

High risk and low prevalence diseases: Serotonin syndrome.
Spadaro A, Scott KR, Koyfman A, Long B
Am J Emerg Med 2022 Nov;61:90-97. Epub 2022 Aug 20 doi: 10.1016/j.ajem.2022.08.030. PMID: 36057215
Lethal multiple pterygium syndrome.
Mohtisham FS, Sallam A, Shawli A
BMJ Case Rep 2019 May 8;12(5) doi: 10.1136/bcr-2018-229045. PMID: 31068350Free PMC Article
Non-pharmacological interventions for treating chronic prostatitis/chronic pelvic pain syndrome.
Franco JV, Turk T, Jung JH, Xiao YT, Iakhno S, Garrote V, Vietto V
Cochrane Database Syst Rev 2018 May 12;5(5):CD012551. doi: 10.1002/14651858.CD012551.pub3. PMID: 29757454Free PMC Article
Rhabdomyolysis: an evaluation of 475 hospitalized patients.
Melli G, Chaudhry V, Cornblath DR
Medicine (Baltimore) 2005 Nov;84(6):377-385. doi: 10.1097/01.md.0000188565.48918.41. PMID: 16267412
Malignant hyperthermia.
Ali SZ, Taguchi A, Rosenberg H
Best Pract Res Clin Anaesthesiol 2003 Dec;17(4):519-33. doi: 10.1016/j.bpa.2003.09.012. PMID: 14661655

Therapy

Drugs of Abuse: Sympathomimetics.
Brown H, Pollard KA
Crit Care Clin 2021 Jul;37(3):487-499. doi: 10.1016/j.ccc.2021.03.002. PMID: 34053702
Non-pharmacological interventions for treating chronic prostatitis/chronic pelvic pain syndrome.
Franco JV, Turk T, Jung JH, Xiao YT, Iakhno S, Garrote V, Vietto V
Cochrane Database Syst Rev 2018 May 12;5(5):CD012551. doi: 10.1002/14651858.CD012551.pub3. PMID: 29757454Free PMC Article
Treatment of Dravet Syndrome.
Wirrell EC
Can J Neurol Sci 2016 Jun;43 Suppl 3:S13-8. doi: 10.1017/cjn.2016.249. PMID: 27264138
Rhabdomyolysis: an evaluation of 475 hospitalized patients.
Melli G, Chaudhry V, Cornblath DR
Medicine (Baltimore) 2005 Nov;84(6):377-385. doi: 10.1097/01.md.0000188565.48918.41. PMID: 16267412
Malignant hyperthermia.
Ali SZ, Taguchi A, Rosenberg H
Best Pract Res Clin Anaesthesiol 2003 Dec;17(4):519-33. doi: 10.1016/j.bpa.2003.09.012. PMID: 14661655

Prognosis

Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis.
Pollazzon M, Caraffi SG, Faccioli S, Rosato S, Fodstad H, Campos-Xavier B, Soncini E, Comitini G, Frattini D, Grimaldi T, Marinelli M, Martorana D, Percesepe A, Sassi S, Fusco C, Gargano G, Superti-Furga A, Garavelli L
Genes (Basel) 2021 Dec 23;13(1) doi: 10.3390/genes13010029. PMID: 35052370Free PMC Article
Dantrolene repurposed to treat sepsis or septic shock and COVID-19 patients.
Wei H, Liang G, Vera RM
Eur Rev Med Pharmacol Sci 2021 Apr;25(7):3136-3144. doi: 10.26355/eurrev_202104_25569. PMID: 33877683Free PMC Article
Lethal multiple pterygium syndrome.
Mohtisham FS, Sallam A, Shawli A
BMJ Case Rep 2019 May 8;12(5) doi: 10.1136/bcr-2018-229045. PMID: 31068350Free PMC Article
Prevention, recognition, and management of serotonin syndrome.
Ables AZ, Nagubilli R
Am Fam Physician 2010 May 1;81(9):1139-42. PMID: 20433130
Rhabdomyolysis: an evaluation of 475 hospitalized patients.
Melli G, Chaudhry V, Cornblath DR
Medicine (Baltimore) 2005 Nov;84(6):377-385. doi: 10.1097/01.md.0000188565.48918.41. PMID: 16267412

Clinical prediction guides

Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis.
Pollazzon M, Caraffi SG, Faccioli S, Rosato S, Fodstad H, Campos-Xavier B, Soncini E, Comitini G, Frattini D, Grimaldi T, Marinelli M, Martorana D, Percesepe A, Sassi S, Fusco C, Gargano G, Superti-Furga A, Garavelli L
Genes (Basel) 2021 Dec 23;13(1) doi: 10.3390/genes13010029. PMID: 35052370Free PMC Article
Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature.
Lawal TA, Todd JJ, Witherspoon JW, Bönnemann CG, Dowling JJ, Hamilton SL, Meilleur KG, Dirksen RT
Skelet Muscle 2020 Nov 16;10(1):32. doi: 10.1186/s13395-020-00243-4. PMID: 33190635Free PMC Article
CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings.
Carrera-García L, Natera-de Benito D, Dieterich K, de la Banda MGG, Felter A, Inarejos E, Codina A, Jou C, Roldan M, Palau F, Hoenicka J, Pijuan J, Ortez C, Expósito-Escudero J, Durand C, Nugues F, Jimenez-Mallebrera C, Colomer J, Carlier RY, Lochmüller H, Quijano-Roy S, Nascimento A
Am J Med Genet A 2019 Jun;179(6):915-926. Epub 2019 Mar 14 doi: 10.1002/ajmg.a.61122. PMID: 30868735
Non-pharmacological interventions for treating chronic prostatitis/chronic pelvic pain syndrome.
Franco JV, Turk T, Jung JH, Xiao YT, Iakhno S, Garrote V, Vietto V
Cochrane Database Syst Rev 2018 May 12;5(5):CD012551. doi: 10.1002/14651858.CD012551.pub3. PMID: 29757454Free PMC Article
Prevalence and patterns of scoliosis in children with multiple pterygium syndrome.
Joo S, Rogers KJ, Donohoe M, King MM, Kumar SJ
J Pediatr Orthop 2012 Mar;32(2):190-5. doi: 10.1097/BPO.0b013e31823ab359. PMID: 22327454

Recent systematic reviews

A systematic review of stereotactic radiofrequency ablation for hypothalamic hamartomas.
Kondajji AM, Evans A, Lum M, Kulinich D, Unterberger A, Ding K, Duong C, Patel K, Yang I
J Neurol Sci 2021 May 15;424:117428. Epub 2021 Mar 27 doi: 10.1016/j.jns.2021.117428. PMID: 33813160
Non-pharmacological interventions for treating chronic prostatitis/chronic pelvic pain syndrome.
Franco JV, Turk T, Jung JH, Xiao YT, Iakhno S, Garrote V, Vietto V
Cochrane Database Syst Rev 2018 May 12;5(5):CD012551. doi: 10.1002/14651858.CD012551.pub3. PMID: 29757454Free PMC Article
Non-pharmacological interventions for treating chronic prostatitis/chronic pelvic pain syndrome.
Franco JV, Turk T, Jung JH, Xiao YT, Iakhno S, Garrote V, Vietto V
Cochrane Database Syst Rev 2018 Jan 26;1(1):CD012551. doi: 10.1002/14651858.CD012551.pub2. PMID: 29372565Free PMC Article

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