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Scapuloperoneal myopathy

MedGen UID:
419759
•Concept ID:
C2931268
•
Disease or Syndrome
Synonyms: Myopathy, scapuloperoneal; Scapuloperoneal syndrome, myopathic type
 
HPO: HP:0009054
Monarch Initiative: MONDO:0000727

Definition

A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm. [from MONDO]

Conditions with this feature

X-linked scapuloperoneal muscular dystrophy
MedGen UID:
395530
•Concept ID:
C2678061
•
Disease or Syndrome
A rare, genetic, muscular dystrophy disease characterized by the co-occurrence of late onset scapular and peroneal muscle weakness, principally manifesting with distal lower limb and proximal upper limb weakness and scapular winging.
See: Condition Record
X-linked scapuloperoneal muscular dystrophy

Recent clinical studies

Etiology

Novel FHL1 mutation variant identified in a patient with nonobstructive hypertrophic cardiomyopathy and myopathy - a case report.
Giucă A, Mitu C, Popescu BO, Bastian AE, Capşa R, Mursă A, Rădoi V, Popescu BA, Jurcuţ R
BMC Med Genet 2020 Sep 29;21(1):188. doi: 10.1186/s12881-020-01131-w. PMID: 32993534Free PMC Article

Diagnosis

Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family.
Zukosky K, Meilleur K, Traynor BJ, Dastgir J, Medne L, Devoto M, Collins J, Rooney J, Zou Y, Yang ML, Gibbs JR, Meier M, Stetefeld J, Finkel RS, Schessl J, Elman L, Felice K, Ferguson TA, Ceyhan-Birsoy O, Beggs AH, Tennekoon G, Johnson JO, Bönnemann CG
JAMA Neurol 2015 Jun;72(6):689-98. doi: 10.1001/jamaneurol.2015.37. PMID: 25938801Free PMC Article
Reducing body myopathy and other FHL1-related muscular disorders.
Schessl J, Feldkirchner S, Kubny C, Schoser B
Semin Pediatr Neurol 2011 Dec;18(4):257-63. doi: 10.1016/j.spen.2011.10.007. PMID: 22172421
A novel mutation in FHL1 in a family with X-linked scapuloperoneal myopathy: phenotypic spectrum and structural study of FHL1 mutations.
Chen DH, Raskind WH, Parson WW, Sonnen JA, Vu T, Zheng Y, Matsushita M, Wolff J, Lipe H, Bird TD
J Neurol Sci 2010 Sep 15;296(1-2):22-9. Epub 2010 Jul 14 doi: 10.1016/j.jns.2010.06.017. PMID: 20633900Free PMC Article
Scapuloperoneal myopathy.
Todman DH, Cooke RA
Clin Exp Neurol 1984;20:169-74. PMID: 6568938
Adult onset scapuloperoneal myopathy.
Thomas PK, Schott GD, Morgan-Hughes JA
J Neurol Neurosurg Psychiatry 1975 Oct;38(10):1008-15. doi: 10.1136/jnnp.38.10.1008. PMID: 1202162Free PMC Article

Therapy

Plectin-related scapuloperoneal myopathy with treatment-responsive myasthenic syndrome.
Argente-Escrig H, Schultheis D, Kamm L, Schowalter M, Thiel C, Türk M, Clemen CS, Muelas N, Castañón MJ, Wiche G, Herrmann H, Vilchez JJ, Schröder R
Neuropathol Appl Neurobiol 2021 Feb;47(2):352-356. Epub 2020 Aug 23 doi: 10.1111/nan.12652. PMID: 32757300

Prognosis

Scapuloperoneal myopathy.
Todman DH, Cooke RA
Clin Exp Neurol 1984;20:169-74. PMID: 6568938

Clinical prediction guides

Identification of novel FHL1 mutations associated with X-linked scapuloperoneal myopathy in unrelated Chinese patients.
Lin Y, Ban R, Qiao L, Chen J, Liu M, Liu J, Shi Q
J Hum Genet 2023 Jul;68(7):477-484. Epub 2023 Mar 3 doi: 10.1038/s10038-023-01138-0. PMID: 36864287
Rigid spine syndrome caused by a novel mutation in four-and-a-half LIM domain 1 gene (FHL1).
Shalaby S, Hayashi YK, Goto K, Ogawa M, Nonaka I, Noguchi S, Nishino I
Neuromuscul Disord 2008 Dec;18(12):959-61. Epub 2008 Oct 25 doi: 10.1016/j.nmd.2008.09.012. PMID: 18952429

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