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Abnormal skeletal muscle morphology

MedGen UID:
868776
Concept ID:
C4023181
Anatomical Abnormality
Synonyms: Abnormal muscle morphology; Abnormality of muscle morphology; Abnormally shaped muscle; Issue with muscle structure
 
HPO: HP:0011805

Definition

A structural abnormality of a skeletal muscle. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal skeletal muscle morphology

Conditions with this feature

Carey-Fineman-Ziter syndrome 2
MedGen UID:
1800921
Concept ID:
C5677012
Disease or Syndrome
Carey-Fineman-Ziter syndrome-2 (CFZS2) is an autosomal recessive disorder characterized by weakness of the facial musculature, hypomimic facies, increased overbite, micrognathia, and facial dysmorphism. Other features may include failure to thrive, axial hypotonia, and progressive scoliosis (Ramirez-Martinez et al., 2022). For a discussion of genetic heterogeneity of Carey-Fineman-Ziter syndrome, see CFZS1 (254940).

Professional guidelines

PubMed

Nishikawa H, Fukunishi S, Asai A, Yokohama K, Nishiguchi S, Higuchi K
Int J Mol Med 2021 Aug;48(2) Epub 2021 Jun 29 doi: 10.3892/ijmm.2021.4989. PMID: 34184088
Carrington EV, Popa SL, Chiarioni G
Curr Gastroenterol Rep 2020 Jun 9;22(7):35. doi: 10.1007/s11894-020-00768-0. PMID: 32519087
Naddaf E, Barohn RJ, Dimachkie MM
Neurotherapeutics 2018 Oct;15(4):995-1005. doi: 10.1007/s13311-018-0658-8. PMID: 30136253Free PMC Article

Recent clinical studies

Etiology

Zrelski MM, Kustermann M, Winter L
Cells 2021 Sep 19;10(9) doi: 10.3390/cells10092480. PMID: 34572129Free PMC Article
Claeys KG
Dev Med Child Neurol 2020 Mar;62(3):297-302. Epub 2019 Oct 2 doi: 10.1111/dmcn.14365. PMID: 31578728
Myrie SB, Pinder MA
Biochem Cell Biol 2018 Apr;96(2):222-229. Epub 2017 Nov 1 doi: 10.1139/bcb-2017-0118. PMID: 29091741
Hilde G, Stær-Jensen J, Siafarikas F, Ellström Engh M, Bø K
Obstet Gynecol 2013 Dec;122(6):1231-8. doi: 10.1097/AOG.0000000000000012. PMID: 24201679
Romero NB, Clarke NF
Handb Clin Neurol 2013;113:1321-36. doi: 10.1016/B978-0-444-59565-2.00004-6. PMID: 23622357

Diagnosis

Claeys KG
Dev Med Child Neurol 2020 Mar;62(3):297-302. Epub 2019 Oct 2 doi: 10.1111/dmcn.14365. PMID: 31578728
Vanhoenacker FM, Desimpel J, Mespreuve M, Tagliafico A
Semin Musculoskelet Radiol 2018 Jul;22(3):275-285. Epub 2018 May 23 doi: 10.1055/s-0038-1641575. PMID: 29791956
Kirschner J
Handb Clin Neurol 2013;113:1377-85. doi: 10.1016/B978-0-444-59565-2.00008-3. PMID: 23622361
Romero NB, Clarke NF
Handb Clin Neurol 2013;113:1321-36. doi: 10.1016/B978-0-444-59565-2.00004-6. PMID: 23622357
D'Amico A, Bertini E
Curr Neurol Neurosci Rep 2008 Jan;8(1):73-9. doi: 10.1007/s11910-008-0012-3. PMID: 18367042

Therapy

Lattouf NA, Tomb R, Assi A, Maynard L, Mesure S
NeuroRehabilitation 2021;48(4):513-522. doi: 10.3233/NRE-201601. PMID: 33967063
Ebadi M, Bhanji RA, Mazurak VC, Montano-Loza AJ
J Gastroenterol 2019 Oct;54(10):845-859. Epub 2019 Aug 7 doi: 10.1007/s00535-019-01605-6. PMID: 31392488Free PMC Article
Spranger MD, Krishnan AC, Levy PD, O'Leary DS, Smith SA
Am J Physiol Heart Circ Physiol 2015 Nov;309(9):H1440-52. Epub 2015 Sep 4 doi: 10.1152/ajpheart.00208.2015. PMID: 26342064Free PMC Article
Hilde G, Stær-Jensen J, Siafarikas F, Ellström Engh M, Bø K
Obstet Gynecol 2013 Dec;122(6):1231-8. doi: 10.1097/AOG.0000000000000012. PMID: 24201679
Bagley WH, Yang H, Shah KH
Intern Emerg Med 2007 Oct;2(3):210-8. Epub 2007 Oct 1 doi: 10.1007/s11739-007-0060-8. PMID: 17909702

Prognosis

Ohlendieck K, Swandulla D
Pflugers Arch 2021 Dec;473(12):1813-1839. Epub 2021 Sep 22 doi: 10.1007/s00424-021-02623-1. PMID: 34553265Free PMC Article
Nishikawa H, Fukunishi S, Asai A, Yokohama K, Nishiguchi S, Higuchi K
Int J Mol Med 2021 Aug;48(2) Epub 2021 Jun 29 doi: 10.3892/ijmm.2021.4989. PMID: 34184088
Gomes MJ, Martinez PF, Pagan LU, Damatto RL, Cezar MDM, Lima ARR, Okoshi K, Okoshi MP
Oncotarget 2017 Mar 21;8(12):20428-20440. doi: 10.18632/oncotarget.14670. PMID: 28099900Free PMC Article
Kirschner J
Handb Clin Neurol 2013;113:1377-85. doi: 10.1016/B978-0-444-59565-2.00008-3. PMID: 23622361
Olsen NJ, Park JH, King LE Jr
Curr Rheumatol Rep 2001 Aug;3(4):346-51. doi: 10.1007/s11926-001-0039-9. PMID: 11470054

Clinical prediction guides

Wijntjes J, van Alfen N
Muscle Nerve 2021 Apr;63(4):455-466. Epub 2020 Oct 13 doi: 10.1002/mus.27081. PMID: 33051891Free PMC Article
Merlet AN, Chatel B, Hourdé C, Ravelojaona M, Bendahan D, Féasson L, Messonnier LA
Med Sci Sports Exerc 2019 Jan;51(1):4-11. doi: 10.1249/MSS.0000000000001757. PMID: 30095751
Gomes MJ, Martinez PF, Pagan LU, Damatto RL, Cezar MDM, Lima ARR, Okoshi K, Okoshi MP
Oncotarget 2017 Mar 21;8(12):20428-20440. doi: 10.18632/oncotarget.14670. PMID: 28099900Free PMC Article
Radhakrishnan J, Bean J, Piazza DJ, Chin AC
J Pediatr Surg 2014 Aug;49(8):1326-31. doi: 10.1016/j.jpedsurg.2014.03.005. PMID: 25092100
Ceglia L, Harris SS
Calcif Tissue Int 2013 Feb;92(2):151-62. Epub 2012 Sep 12 doi: 10.1007/s00223-012-9645-y. PMID: 22968766

Recent systematic reviews

Bray GA, Bouchard C
Obes Rev 2020 Sep;21(9):e13040. Epub 2020 Jun 8 doi: 10.1111/obr.13040. PMID: 32515127
Solís-García Del Pozo J, de Cabo C, Solera J
Orphanet J Rare Dis 2020 May 19;15(1):115. doi: 10.1186/s13023-020-01395-8. PMID: 32429959Free PMC Article
Solís-García Del Pozo J, de Cabo C, Solera J
Orphanet J Rare Dis 2019 Jun 19;14(1):146. doi: 10.1186/s13023-019-1120-7. PMID: 31217029Free PMC Article
Goubert D, Oosterwijck JV, Meeus M, Danneels L
Pain Physician 2016 Sep-Oct;19(7):E985-E1000. PMID: 27676689
Vincent AE, Ng YS, White K, Davey T, Mannella C, Falkous G, Feeney C, Schaefer AM, McFarland R, Gorman GS, Taylor RW, Turnbull DM, Picard M
Sci Rep 2016 Aug 10;6:30610. doi: 10.1038/srep30610. PMID: 27506553Free PMC Article

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