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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).
 
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).
Abnormal mandible morphology
MedGen UID:
871374
Concept ID:
C4025870
Anatomical Abnormality
Any abnormality of the mandible, the bone of the lower jaw.
Arthrogryposis multiplex congenita
MedGen UID:
1830310
Concept ID:
C5779613
Disease or Syndrome
Multiple congenital contractures in different body areas.
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.
Natal tooth
MedGen UID:
10268
Concept ID:
C0027443
Finding
A tooth present at birth or erupting within the first month of life.
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).

Professional guidelines

PubMed

Wirrell EC
Can J Neurol Sci 2016 Jun;43 Suppl 3:S13-8. doi: 10.1017/cjn.2016.249. PMID: 27264138
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
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

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
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
Halberstadt AL
Curr Top Behav Neurosci 2017;32:283-311. doi: 10.1007/7854_2016_64. PMID: 28097528
Wirrell EC
Can J Neurol Sci 2016 Jun;43 Suppl 3:S13-8. doi: 10.1017/cjn.2016.249. PMID: 27264138
Melli G, Chaudhry V, Cornblath DR
Medicine (Baltimore) 2005 Nov;84(6):377-385. doi: 10.1097/01.md.0000188565.48918.41. PMID: 16267412

Diagnosis

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
Mohtisham FS, Sallam A, Shawli A
BMJ Case Rep 2019 May 8;12(5) doi: 10.1136/bcr-2018-229045. PMID: 31068350Free PMC Article
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
Melli G, Chaudhry V, Cornblath DR
Medicine (Baltimore) 2005 Nov;84(6):377-385. doi: 10.1097/01.md.0000188565.48918.41. PMID: 16267412
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

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
Brown H, Pollard KA
Crit Care Clin 2021 Jul;37(3):487-499. doi: 10.1016/j.ccc.2021.03.002. PMID: 34053702
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
Melli G, Chaudhry V, Cornblath DR
Medicine (Baltimore) 2005 Nov;84(6):377-385. doi: 10.1097/01.md.0000188565.48918.41. PMID: 16267412
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

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
Mohtisham FS, Sallam A, Shawli A
BMJ Case Rep 2019 May 8;12(5) doi: 10.1136/bcr-2018-229045. PMID: 31068350Free PMC Article
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
Ables AZ, Nagubilli R
Am Fam Physician 2010 May 1;81(9):1139-42. PMID: 20433130
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

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
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
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
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
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

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
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
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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