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Scapular muscle atrophy

MedGen UID:
812299
Concept ID:
C3805969
Finding
HPO: HP:0009060

Definition

Atrophy of the muscles that are responsible for moving the scapula, which are the levator scapulae, the infraspinatus muscle, the teres major, the teres minor, and the supraspinatus muscle. [from HPO]

Conditions with this feature

Scapuloperoneal spinal muscular atrophy
MedGen UID:
148283
Concept ID:
C0751335
Disease or Syndrome
The autosomal dominant TRPV4 disorders (previously considered to be clinically distinct phenotypes before their molecular basis was discovered) are now grouped into neuromuscular disorders and skeletal dysplasias; however, the overlap within each group is considerable. Affected individuals typically have either neuromuscular or skeletal manifestations alone, and in only rare instances an overlap syndrome has been reported. The three autosomal dominant neuromuscular disorders (mildest to most severe) are: Charcot-Marie-Tooth disease type 2C. Scapuloperoneal spinal muscular atrophy. Congenital distal spinal muscular atrophy. The autosomal dominant neuromuscular disorders are characterized by a congenital-onset, static, or later-onset progressive peripheral neuropathy with variable combinations of laryngeal dysfunction (i.e., vocal fold paresis), respiratory dysfunction, and joint contractures. The six autosomal dominant skeletal dysplasias (mildest to most severe) are: Familial digital arthropathy-brachydactyly. Autosomal dominant brachyolmia. Spondylometaphyseal dysplasia, Kozlowski type. Spondyloepiphyseal dysplasia, Maroteaux type. Parastremmatic dysplasia. Metatropic dysplasia. The skeletal dysplasia is characterized by brachydactyly (in all 6); the five that are more severe have short stature that varies from mild to severe with progressive spinal deformity and involvement of the long bones and pelvis. In the mildest of the autosomal dominant TRPV4 disorders life span is normal; in the most severe it is shortened. Bilateral progressive sensorineural hearing loss (SNHL) can occur with both autosomal dominant neuromuscular disorders and skeletal dysplasias.
Autosomal recessive limb-girdle muscular dystrophy type 2M
MedGen UID:
370585
Concept ID:
C1969040
Disease or Syndrome
MDDGC4 is an autosomal recessive muscular dystrophy with onset in infancy or early childhood. Cognition and brain structure are usually normal (Godfrey et al., 2006). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (Mercuri et al., 2009).

Recent clinical studies

Etiology

Wallenberg RB, Belzer ML, Ramsey DC, Opel DM, Berkson MD, Gundle KR, Nagy ML, Boucher RJ, McCarron JA
J Shoulder Elbow Surg 2022 Jun;31(6):1272-1281. Epub 2022 Jan 31 doi: 10.1016/j.jse.2021.12.037. PMID: 35101606
Silkjær Bak S, Johnsen B, Fuglsang-Frederiksen A, Døssing K, Qerama E
Clin Neurophysiol 2022 Jan;133:48-57. Epub 2021 Oct 29 doi: 10.1016/j.clinph.2021.09.021. PMID: 34801963
Al-Ghamdi F, Ghosh PS
Muscle Nerve 2018 Jun;57(6):932-936. Epub 2018 Jan 23 doi: 10.1002/mus.26060. PMID: 29315708
Gerevini S, Scarlato M, Maggi L, Cava M, Caliendo G, Pasanisi B, Falini A, Previtali SC, Morandi L
Eur Radiol 2016 Mar;26(3):693-705. Epub 2015 Jun 27 doi: 10.1007/s00330-015-3890-1. PMID: 26115655
Jiang SD, Jiang LS, Dai LY
Eur Spine J 2011 Mar;20(3):351-7. Epub 2010 Aug 8 doi: 10.1007/s00586-010-1544-1. PMID: 20694735Free PMC Article

Diagnosis

Meiling JB, Boon AJ, Niu Z, Howe BM, Hoskote SS, Spinner RJ, Klein CJ
Mayo Clin Proc 2024 Jan;99(1):124-140. doi: 10.1016/j.mayocp.2023.06.011. PMID: 38176820
Araujo CSR, Miossi R, De Souza FHC, Costa MD, Da Silva AMS, Campos ED, Zanoteli E, Shinjo SK
Reumatismo 2021 Aug 3;73(2):122-130. doi: 10.4081/reumatismo.2021.1397. PMID: 34342214
Luo W, Li Y, Xu Q, Gu R, Zhao J
Eur Spine J 2019 Oct;28(10):2293-2301. Epub 2019 Apr 29 doi: 10.1007/s00586-019-05990-7. PMID: 31037421
Al-Ghamdi F, Ghosh PS
Muscle Nerve 2018 Jun;57(6):932-936. Epub 2018 Jan 23 doi: 10.1002/mus.26060. PMID: 29315708
Romeo AA, Rotenberg DD, Bach BR Jr
J Am Acad Orthop Surg 1999 Nov-Dec;7(6):358-67. doi: 10.5435/00124635-199911000-00002. PMID: 11497489

Therapy

Giannoni M, Rizzetto G, Diotallevi F, Molinelli E, Radi G, Campanati A, Brancorsni D, Offidani A
Acta Dermatovenerol Croat 2022 Sep;30(2):123-125. PMID: 36254548
Ozen S, Cosar SNS, Afsar SI, Ayas S
J Coll Physicians Surg Pak 2021 Sep;31(9):1111-1113. doi: 10.29271/jcpsp.2021.09.1111. PMID: 34500533
Khosravi F, Peolsson A, Karimi N, Rahnama L
J Ultrasound Med 2019 Feb;38(2):337-345. Epub 2018 May 15 doi: 10.1002/jum.14693. PMID: 29761537
Fransz DP, Schönhuth CP, Postma TJ, van Royen BJ
BMC Musculoskelet Disord 2014 Aug 7;15:265. doi: 10.1186/1471-2474-15-265. PMID: 25098693Free PMC Article
Nora DB, Fricke D, Becker J, Gomes I
Arq Neuropsiquiatr 2004 Mar;62(1):154-7. Epub 2004 Apr 28 doi: 10.1590/s0004-282x2004000100028. PMID: 15122452

Prognosis

Luo W, Li Y, Xu Q, Gu R, Zhao J
Eur Spine J 2019 Oct;28(10):2293-2301. Epub 2019 Apr 29 doi: 10.1007/s00586-019-05990-7. PMID: 31037421
Sayed-Noor AS, Pollock R, Elhassan BT, Kadum B
J Shoulder Elbow Surg 2018 Jun;27(6):976-982. Epub 2018 Feb 9 doi: 10.1016/j.jse.2017.12.021. PMID: 29433980
Al-Ghamdi F, Ghosh PS
Muscle Nerve 2018 Jun;57(6):932-936. Epub 2018 Jan 23 doi: 10.1002/mus.26060. PMID: 29315708
Gerevini S, Scarlato M, Maggi L, Cava M, Caliendo G, Pasanisi B, Falini A, Previtali SC, Morandi L
Eur Radiol 2016 Mar;26(3):693-705. Epub 2015 Jun 27 doi: 10.1007/s00330-015-3890-1. PMID: 26115655
Jiang SD, Jiang LS, Dai LY
Eur Spine J 2011 Mar;20(3):351-7. Epub 2010 Aug 8 doi: 10.1007/s00586-010-1544-1. PMID: 20694735Free PMC Article

Clinical prediction guides

Wallenberg RB, Belzer ML, Ramsey DC, Opel DM, Berkson MD, Gundle KR, Nagy ML, Boucher RJ, McCarron JA
J Shoulder Elbow Surg 2022 Jun;31(6):1272-1281. Epub 2022 Jan 31 doi: 10.1016/j.jse.2021.12.037. PMID: 35101606
Berthold DP, Garvin P, Mancini MR, Uyeki CL, LeVasseur MR, Mazzocca AD, Voss A
Oper Orthop Traumatol 2022 Feb;34(1):4-12. Epub 2021 Dec 10 doi: 10.1007/s00064-021-00754-3. PMID: 34890027
Voermans NC, van der Bilt RC, IJspeert J, Hogrel JY, Jeanpierre M, Behin A, Laforet P, Stojkovic T, van Engelen BG, Padberg GW, Sacconi S, Lemmers RJLF, van der Maarel SM, Eymard B, Bassez G
J Neurol 2019 Dec;266(12):2987-2996. Epub 2019 Aug 31 doi: 10.1007/s00415-019-09494-8. PMID: 31471688Free PMC Article
Al-Ghamdi F, Ghosh PS
Muscle Nerve 2018 Jun;57(6):932-936. Epub 2018 Jan 23 doi: 10.1002/mus.26060. PMID: 29315708
Gerevini S, Scarlato M, Maggi L, Cava M, Caliendo G, Pasanisi B, Falini A, Previtali SC, Morandi L
Eur Radiol 2016 Mar;26(3):693-705. Epub 2015 Jun 27 doi: 10.1007/s00330-015-3890-1. PMID: 26115655

Recent systematic reviews

Luo W, Li Y, Xu Q, Gu R, Zhao J
Eur Spine J 2019 Oct;28(10):2293-2301. Epub 2019 Apr 29 doi: 10.1007/s00586-019-05990-7. PMID: 31037421

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