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Scapuloperoneal muscular dystrophy(MSMA; SPMD; SPMM; CMYP7A)

MedGen UID:
1677244
•Concept ID:
C4759774
•
Disease or Syndrome
Synonyms: Muscular Dystrophy, Scapuloperoneal; MYH7-Related Scapuloperoneal Myopathy; Myopathy, Hyaline Body, Autosomal Dominant; Myopathy, MYH7-Related Scapuloperoneal; Scapuloperoneal Muscular Dystrophy; Scapuloperoneal Myopathy, MYH7 Related; Scapuloperoneal Myopathy, MYH7-Related
SNOMED CT: Scapuloperoneal muscular dystrophy (129620000)
 
OMIM®: 160760; 608358

Professional guidelines

PubMed

2022 HRS expert consensus statement on evaluation and management of arrhythmic risk in neuromuscular disorders.
Groh WJ, Bhakta D, Tomaselli GF, Aleong RG, Teixeira RA, Amato A, Asirvatham SJ, Cha YM, Corrado D, Duboc D, Goldberger ZD, Horie M, Hornyak JE, Jefferies JL, Kääb S, Kalman JM, Kertesz NJ, Lakdawala NK, Lambiase PD, Lubitz SA, McMillan HJ, McNally EM, Milone M, Namboodiri N, Nazarian S, Patton KK, Russo V, Sacher F, Santangeli P, Shen WK, Sobral Filho DC, Stambler BS, Stöllberger C, Wahbi K, Wehrens XHT, Weiner MM, Wheeler MT, Zeppenfeld K
Heart Rhythm 2022 Oct;19(10):e61-e120. Epub 2022 Apr 29 doi: 10.1016/j.hrthm.2022.04.022. PMID: 35500790
Cardiac Involvement in Emery-Dreifuss Muscular Dystrophy and Related Management Strategies.
Wang S, Peng D
Int Heart J 2019 Jan 25;60(1):12-18. Epub 2018 Dec 5 doi: 10.1536/ihj.17-604. PMID: 30518714
Prenatal diagnosis of congenital myopathies and muscular dystrophies.
Massalska D, Zimowski JG, Bijok J, Kucińska-Chahwan A, Łusakowska A, Jakiel G, Roszkowski T
Clin Genet 2016 Sep;90(3):199-210. Epub 2016 Jun 2 doi: 10.1111/cge.12801. PMID: 27197572

Recent clinical studies

Etiology

Scapuloperoneal muscular dystrophy phenotype due to TRIM32-sarcotubular myopathy in South Dakota Hutterite.
Liewluck T, Tracy JA, Sorenson EJ, Engel AG
Neuromuscul Disord 2013 Feb;23(2):133-8. Epub 2012 Nov 9 doi: 10.1016/j.nmd.2012.09.010. PMID: 23142638
Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia.
Kimonis VE, Mehta SG, Fulchiero EC, Thomasova D, Pasquali M, Boycott K, Neilan EG, Kartashov A, Forman MS, Tucker S, Kimonis K, Mumm S, Whyte MP, Smith CD, Watts GD
Am J Med Genet A 2008 Mar 15;146A(6):745-57. doi: 10.1002/ajmg.a.31862. PMID: 18260132Free PMC Article

Diagnosis

Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia.
Kimonis VE, Mehta SG, Fulchiero EC, Thomasova D, Pasquali M, Boycott K, Neilan EG, Kartashov A, Forman MS, Tucker S, Kimonis K, Mumm S, Whyte MP, Smith CD, Watts GD
Am J Med Genet A 2008 Mar 15;146A(6):745-57. doi: 10.1002/ajmg.a.31862. PMID: 18260132Free PMC Article

Clinical prediction guides

Pathological and genetic analysis of the degenerating muscle (dmu) mouse: a new allele of Scn8a.
De Repentigny Y, Côté PD, Pool M, Bernier G, Girard S, Vidal SM, Kothary R
Hum Mol Genet 2001 Aug 15;10(17):1819-27. doi: 10.1093/hmg/10.17.1819. PMID: 11532991
Linkage of scapuloperoneal spinal muscular atrophy to chromosome 12q24.1-q24.31.
Isozumi K, DeLong R, Kaplan J, Deng HX, Iqbal Z, Hung WY, Wilhelmsen KC, Hentati A, Pericak-Vance MA, Siddique T
Hum Mol Genet 1996 Sep;5(9):1377-82. doi: 10.1093/hmg/5.9.1377. PMID: 8872481
Lobulated fibers in neuromuscular diseases.
Guerard MJ, Sewry CA, Dubowitz V
J Neurol Sci 1985 Jul;69(3):345-56. doi: 10.1016/0022-510x(85)90145-5. PMID: 3162002

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