U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Autosomal dominant distal myopathy

MedGen UID:
1826097
•Concept ID:
C5680803
•
Disease or Syndrome
Synonyms: autosomal dominant distal myopathy; distal myopathy, autosomal dominant
 
Monarch Initiative: MONDO:0016108
Orphanet: ORPHA206650

Definition

Autosomal dominant form of distal myopathy. [from MONDO]

Professional guidelines

PubMed

Clinical features and genotypes of Laing distal myopathy in a group of Chinese patients, with in-frame deletions of MYH7 as common mutations.
Yu M, Zhu Y, Lu Y, Lv H, Zhang W, Yuan Y, Wang Z
Orphanet J Rare Dis 2020 Dec 9;15(1):344. doi: 10.1186/s13023-020-01626-y. PMID: 33298082Free PMC Article
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.
Marttila M, Lehtokari VL, Marston S, Nyman TA, Barnerias C, Beggs AH, Bertini E, Ceyhan-Birsoy O, Cintas P, Gerard M, Gilbert-Dussardier B, Hogue JS, Longman C, Eymard B, Frydman M, Kang PB, Klinge L, Kolski H, Lochmüller H, Magy L, Manel V, Mayer M, Mercuri E, North KN, Peudenier-Robert S, Pihko H, Probst FJ, Reisin R, Stewart W, Taratuto AL, de Visser M, Wilichowski E, Winer J, Nowak K, Laing NG, Winder TL, Monnier N, Clarke NF, Pelin K, Grönholm M, Wallgren-Pettersson C
Hum Mutat 2014 Jul;35(7):779-90. Epub 2014 May 1 doi: 10.1002/humu.22554. PMID: 24692096Free PMC Article

Recent clinical studies

Etiology

Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy.
Cirak S, von Deimling F, Sachdev S, Errington WJ, Herrmann R, Bönnemann C, Brockmann K, Hinderlich S, Lindner TH, Steinbrecher A, Hoffmann K, Privé GG, Hannink M, Nürnberg P, Voit T
Brain 2010 Jul;133(Pt 7):2123-35. Epub 2010 Jun 16 doi: 10.1093/brain/awq108. PMID: 20554658Free PMC Article
Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3.
Senderek J, Garvey SM, Krieger M, Guergueltcheva V, Urtizberea A, Roos A, Elbracht M, Stendel C, Tournev I, Mihailova V, Feit H, Tramonte J, Hedera P, Crooks K, Bergmann C, Rudnik-Schöneborn S, Zerres K, Lochmüller H, Seboun E, Weis J, Beckmann JS, Hauser MA, Jackson CE
Am J Hum Genet 2009 Apr;84(4):511-8. Epub 2009 Apr 2 doi: 10.1016/j.ajhg.2009.03.006. PMID: 19344878Free PMC Article
The second kindred with autosomal dominant distal myopathy linked to chromosome 14q: genetic and clinical analysis.
Hedera P, Petty EM, Bui MR, Blaivas M, Fink JK
Arch Neurol 2003 Sep;60(9):1321-5. doi: 10.1001/archneur.60.9.1321. PMID: 12975303
Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: clinical description and gene localization to 5q31.
Feit H, Silbergleit A, Schneider LB, Gutierrez JA, Fitoussi RP, Réyès C, Rouleau GA, Brais B, Jackson CE, Beckmann JS, Seboun E
Am J Hum Genet 1998 Dec;63(6):1732-42. doi: 10.1086/302166. PMID: 9837826Free PMC Article
Infantile autosomal dominant distal myopathy.
Scoppetta C, Casali C, La Cesa I, Sermoni A, Mercuri B, Pierelli F, Vaccario ML
Acta Neurol Scand 1995 Aug;92(2):122-6. doi: 10.1111/j.1600-0404.1995.tb01024.x. PMID: 7484058

Diagnosis

Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations.
Savarese M, Palmio J, Poza JJ, Weinberg J, Olive M, Cobo AM, Vihola A, Jonson PH, Sarparanta J, García-Bragado F, Urtizberea JA, Hackman P, Udd B
Ann Neurol 2019 Jun;85(6):899-906. Epub 2019 Apr 3 doi: 10.1002/ana.25470. PMID: 30900782
Autosomal dominant distal myopathy with nemaline rods due to p.Glu197Asp mutation in ACTA1.
Hernandez-Lain A, Cantero D, Camacho-Salas A, Toldos O, Esteban I, Pascual I, Dominguez-Gonzalez C
Neuromuscul Disord 2019 Mar;29(3):247-250. Epub 2018 Dec 10 doi: 10.1016/j.nmd.2018.12.001. PMID: 30732915
Autosomal dominant distal myopathy due to a novel ACTA1 mutation.
Liewluck T, Sorenson EJ, Walkiewicz MA, Rumilla KM, Milone M
Neuromuscul Disord 2017 Aug;27(8):742-746. Epub 2017 May 5 doi: 10.1016/j.nmd.2017.05.003. PMID: 28606400
Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype.
Berciano J, Gallardo E, Domínguez-Perles R, Gallardo E, García A, García-Barredo R, Combarros O, Infante J, Illa I
J Neurol Neurosurg Psychiatry 2008 Feb;79(2):205-8. Epub 2007 Aug 13 doi: 10.1136/jnnp.2007.125435. PMID: 17698502
Infantile autosomal dominant distal myopathy.
Scoppetta C, Casali C, La Cesa I, Sermoni A, Mercuri B, Pierelli F, Vaccario ML
Acta Neurol Scand 1995 Aug;92(2):122-6. doi: 10.1111/j.1600-0404.1995.tb01024.x. PMID: 7484058

Prognosis

Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies.
Davidson AE, Siddiqui FM, Lopez MA, Lunt P, Carlson HA, Moore BE, Love S, Born DE, Roper H, Majumdar A, Jayadev S, Underhill HR, Smith CO, von der Hagen M, Hubner A, Jardine P, Merrison A, Curtis E, Cullup T, Jungbluth H, Cox MO, Winder TL, Abdel Salam H, Li JZ, Moore SA, Dowling JJ
Brain 2013 Feb;136(Pt 2):508-21. doi: 10.1093/brain/aws344. PMID: 23413262Free PMC Article
Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1).
Meredith C, Herrmann R, Parry C, Liyanage K, Dye DE, Durling HJ, Duff RM, Beckman K, de Visser M, van der Graaff MM, Hedera P, Fink JK, Petty EM, Lamont P, Fabian V, Bridges L, Voit T, Mastaglia FL, Laing NG
Am J Hum Genet 2004 Oct;75(4):703-8. Epub 2004 Aug 20 doi: 10.1086/424760. PMID: 15322983Free PMC Article
A novel autosomal dominant distal myopathy with early respiratory failure: clinico-pathologic characteristics and exclusion of linkage to candidate genetic loci.
Chinnery PF, Johnson MA, Walls TJ, Gibson GJ, Fawcett PR, Jamieson S, Fulthorpe JJ, Cullen M, Hudgson P, Bushby KM
Ann Neurol 2001 Apr;49(4):443-52. PMID: 11310621
Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus.
Voit T, Kutz P, Leube B, Neuen-Jacob E, Schröder JM, Cavallotti D, Vaccario ML, Schaper J, Broich P, Cohn R, Baethmann M, Göhlich-Ratmann G, Scoppetta C, Herrmann R
Neuromuscul Disord 2001 Jan;11(1):11-9. doi: 10.1016/s0960-8966(00)00158-9. PMID: 11166161
Autosomal dominant distal myopathy with desmin storage: a clinicopathologic and electrophysiologic study of a large kinship.
Horowitz SH, Schmalbruch H
Muscle Nerve 1994 Feb;17(2):151-60. doi: 10.1002/mus.880170204. PMID: 8114783

Clinical prediction guides

A novel autosomal dominant distal myopathy with early respiratory failure: clinico-pathologic characteristics and exclusion of linkage to candidate genetic loci.
Chinnery PF, Johnson MA, Walls TJ, Gibson GJ, Fawcett PR, Jamieson S, Fulthorpe JJ, Cullen M, Hudgson P, Bushby KM
Ann Neurol 2001 Apr;49(4):443-52. PMID: 11310621
Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus.
Voit T, Kutz P, Leube B, Neuen-Jacob E, Schröder JM, Cavallotti D, Vaccario ML, Schaper J, Broich P, Cohn R, Baethmann M, Göhlich-Ratmann G, Scoppetta C, Herrmann R
Neuromuscul Disord 2001 Jan;11(1):11-9. doi: 10.1016/s0960-8966(00)00158-9. PMID: 11166161
Autosomal dominant distal myopathy not linked to the known distal myopathy loci.
Felice KJ, Meredith C, Binz N, Butler A, Jacob R, Akkari P, Hallmayer J, Laing N
Neuromuscul Disord 1999 Mar;9(2):59-65. doi: 10.1016/s0960-8966(98)00099-6. PMID: 10220859
Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: clinical description and gene localization to 5q31.
Feit H, Silbergleit A, Schneider LB, Gutierrez JA, Fitoussi RP, Réyès C, Rouleau GA, Brais B, Jackson CE, Beckmann JS, Seboun E
Am J Hum Genet 1998 Dec;63(6):1732-42. doi: 10.1086/302166. PMID: 9837826Free PMC Article
Autosomal dominant distal myopathy: linkage to chromosome 14.
Laing NG, Laing BA, Meredith C, Wilton SD, Robbins P, Honeyman K, Dorosz S, Kozman H, Mastaglia FL, Kakulas BA
Am J Hum Genet 1995 Feb;56(2):422-7. PMID: 7847377Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...