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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).
See: Condition Record
Carey-Fineman-Ziter syndrome 2

Professional guidelines

PubMed

Pathophysiology and mechanisms of primary sarcopenia (Review).
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
Proctalgia Syndromes: Update in Diagnosis and Management.
Carrington EV, Popa SL, Chiarioni G
Curr Gastroenterol Rep 2020 Jun 9;22(7):35. doi: 10.1007/s11894-020-00768-0. PMID: 32519087
Inclusion Body Myositis: Update on Pathogenesis and Treatment.
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

Muscle-Related Plectinopathies.
Zrelski MM, Kustermann M, Winter L
Cells 2021 Sep 19;10(9) doi: 10.3390/cells10092480. PMID: 34572129Free PMC Article
Congenital myopathies: an update.
Claeys KG
Dev Med Child Neurol 2020 Mar;62(3):297-302. Epub 2019 Oct 2 doi: 10.1111/dmcn.14365. PMID: 31578728
Skeletal muscle and fetal alcohol spectrum disorder.
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
Postpartum pelvic floor muscle training and urinary incontinence: a randomized controlled trial.
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
Congenital myopathies.
Romero NB, Clarke NF
Handb Clin Neurol 2013;113:1321-36. doi: 10.1016/B978-0-444-59565-2.00004-6. PMID: 23622357

Diagnosis

Congenital myopathies: an update.
Claeys KG
Dev Med Child Neurol 2020 Mar;62(3):297-302. Epub 2019 Oct 2 doi: 10.1111/dmcn.14365. PMID: 31578728
Non-femoroacetabular impingement.
Blankenbaker DG, Tuite MJ
Semin Musculoskelet Radiol 2013 Jul;17(3):279-85. Epub 2013 Jun 20 doi: 10.1055/s-0033-1348094. PMID: 23787982
Congenital muscular dystrophies.
Kirschner J
Handb Clin Neurol 2013;113:1377-85. doi: 10.1016/B978-0-444-59565-2.00008-3. PMID: 23622361
Congenital myopathies.
Romero NB, Clarke NF
Handb Clin Neurol 2013;113:1321-36. doi: 10.1016/B978-0-444-59565-2.00004-6. PMID: 23622357
Sheldon-Hall syndrome.
Toydemir RM, Bamshad MJ
Orphanet J Rare Dis 2009 Mar 23;4:11. doi: 10.1186/1750-1172-4-11. PMID: 19309503Free PMC Article

Therapy

Histone Deacetylases: Molecular Mechanisms and Therapeutic Implications for Muscular Dystrophies.
Sandonà M, Cavioli G, Renzini A, Cedola A, Gigli G, Coletti D, McKinsey TA, Moresi V, Saccone V
Int J Mol Sci 2023 Feb 21;24(5) doi: 10.3390/ijms24054306. PMID: 36901738Free PMC Article
Eccentric training effects for patients with post-stroke hemiparesis on strength and speed gait: A randomized controlled trial.
Lattouf NA, Tomb R, Assi A, Maynard L, Mesure S
NeuroRehabilitation 2021;48(4):513-522. doi: 10.3233/NRE-201601. PMID: 33967063
Sarcopenia in cirrhosis: from pathogenesis to interventions.
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
Blood flow restriction training and the exercise pressor reflex: a call for concern.
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
Postpartum pelvic floor muscle training and urinary incontinence: a randomized controlled trial.
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

Prognosis

Pathophysiology and mechanisms of primary sarcopenia (Review).
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
Skeletal muscle aging: influence of oxidative stress and physical exercise.
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
Congenital muscular dystrophies.
Kirschner J
Handb Clin Neurol 2013;113:1377-85. doi: 10.1016/B978-0-444-59565-2.00008-3. PMID: 23622361
Arthrogryposis and amyoplasia.
Bernstein RM
J Am Acad Orthop Surg 2002 Nov-Dec;10(6):417-24. doi: 10.5435/00124635-200211000-00006. PMID: 12470044
Amyopathic dermatomyositis.
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

Muscle ultrasound: Present state and future opportunities.
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
Skeletal muscle aging: influence of oxidative stress and physical exercise.
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
Accessory hemi diaphragm.
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
Vitamin D and its role in skeletal muscle.
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
Arthrogryposis and amyoplasia.
Bernstein RM
J Am Acad Orthop Surg 2002 Nov-Dec;10(6):417-24. doi: 10.5435/00124635-200211000-00006. PMID: 12470044

Recent systematic reviews

The biology of human overfeeding: A systematic review.
Bray GA, Bouchard C
Obes Rev 2020 Sep;21(9):e13040. Epub 2020 Jun 8 doi: 10.1111/obr.13040. PMID: 32515127
Gastrointestinal manifestations in Satoyoshi syndrome: a systematic review.
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
Treatment of Satoyoshi syndrome: a systematic review.
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
Structural Changes of Lumbar Muscles in Non-specific Low Back Pain: A Systematic Review.
Goubert D, Oosterwijck JV, Meeus M, Danneels L
Pain Physician 2016 Sep-Oct;19(7):E985-E1000. PMID: 27676689
The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy.
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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