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Scapuloperoneal syndrome with mitochondrial DNA deletion

2022; Elsevier BV; Volume: 434; Linguagem: Inglês

10.1016/j.jns.2022.120164

1878-5883

Émilie Pichette, Erin O’Ferrall, Jason Karamchandani, Marco Savarese, Bjarne Udd, Rami Massie,

Ion channel regulation and function

Scapuloperoneal syndrome refers to a group of neuromuscular inherited conditions presenting with progressive weakness of periscapular and anterior lower leg muscles. Patients complain of limitation in lifting their arms above shoulder level, associated with scapular winging, and weak ankle dorsiflexion leading to bilateral foot drop. First described in 1886 by Brossard, the syndrome has a wide differential diagnosis including conditions affecting motor neurons (spinal muscular atrophy (SMA)), peripheral nerves (Davidenkow syndrome in PMP22 deletions [ [1] Verma A. Neuropathic scapuloperoneal syndrome (Davidenkow's syndrome) with chromosome 17p11.2 deletion. Muscle Nerve. 2005; 32: 668-671https://doi.org/10.1002/mus.20402 Google Scholar , [2] Thomas P.K. Schott G.D. Morgan-Hughes J.A. Adult onset scapuloperoneal myopathy. J. Neurol. Neurosurg. Psychiatry. 1975; 38: 1008-1015https://doi.org/10.1136/jnnp.38.10.1008 Google Scholar ], TRPV4 and MORC 2 mutations in Charcot-Marie-Tooth disease (CMT) 2C and 2CZ respectively [ [3] Deng H.X. Klein C.J. Yan J. Shi Y. Wu Y. Fecto F. Yau H.J. Yang Y. Zhai H. Siddique N. Hedley-Whyte E.T. Delong R. Martina M. Dyck P.J. Siddique T. Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4. Nat. Genet. 2010; 42: 165-169https://doi.org/10.1038/ng.509 Google Scholar ]), skeletal muscles and rarely neuromuscular junction (PLEC mutation) [ [2] Thomas P.K. Schott G.D. Morgan-Hughes J.A. Adult onset scapuloperoneal myopathy. J. Neurol. Neurosurg. Psychiatry. 1975; 38: 1008-1015https://doi.org/10.1136/jnnp.38.10.1008 Google Scholar , [4] Argente-Escrig H. Schultheis D. Kamm L. Schowalter M. Thiel C. Turk M. Clemen C.S. Muelas N. Castanon M.J. Wiche G. Herrmann H. Vilchez J.J. Schroder R. Plectin-related scapuloperoneal myopathy with treatment-responsive myasthenic syndrome. Neuropathol. Appl. Neurobiol. 2021; 47: 352-356https://doi.org/10.1111/nan.12652 Google Scholar ]. Myopathic causes include facioscapulohumeral muscular dystrophy (FSHD), desminopathy (scapuloperoneal syndrome type Kaeser) [ [5] Walter M.C. Reilich P. Huebner A. Fischer D. Schroder R. Vorgerd M. Kress W. Born C. Schoser B.G. Krause K.H. Klutzny U. Bulst S. Frey J.R. Lochmuller H. Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P. Brain. 2007; 130: 1485-1496https://doi.org/10.1093/brain/awm039 Google Scholar ], and more recently FHL1, ACTA1 and HNRNPDL mutations [ [6] Zukosky K. Meilleur K. Traynor B.J. Dastgir J. Medne L. Devoto M. Collins J. Rooney J. Zou Y. Yang M.L. Gibbs J.R. Meier M. Stetefeld J. Finkel R.S. Schessl J. Elman L. Felice K. Ferguson T.A. Ceyhan-Birsoy O. Beggs A.H. Tennekoon G. Johnson J.O. Bonnemann C.G. Association of a Novel ACTA1 mutation with a dominant progressive Scapuloperoneal myopathy in an extended family. JAMA Neurol. 2015; 72: 689-698https://doi.org/10.1001/jamaneurol.2015.37 Google Scholar , [7] Quinzii C.M. Vu T.H. Min K.C. Tanji K. Barral S. Grewal R.P. Kattah A. Camano P. Otaegui D. Kunimatsu T. Blake D.M. Wilhelmsen K.C. Rowland L.P. Hays A.P. Bonilla E. Hirano M. X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1. Am. J. Hum. Genet. 2008; 82: 208-213https://doi.org/10.1016/j.ajhg.2007.09.013 Google Scholar ]. We describe here four siblings presenting with a scapuloperoneal phenotype due to a mitochondrial myopathy.