Skip to main content
SpringerLink
Log in

Progressive Muskeldystrophien und kongenitale Myopathien

  • Living reference work entry
  • First Online:
Klinische Neurologie

Part of the book series: Springer Reference Medizin ((SRM))

Zusammenfassung

Muskeldystrophien sind eine klinisch und pathogenetisch heterogene Gruppe progressiver Muskelerkrankungen, die zu einer primären Degeneration von Muskelfasern führen. Das Manifestationsalter reicht von der frühen Kindheit bis in das späte Erwachsenenalter. Bei vielen Formen ist der zugrunde liegende Gendefekt bekannt, und es erfolgt eine genetische Klassifikation. Auch die kongenitalen Myopathien, die bereits kurz nach der Geburt klinisch manifest werden, stellen mittlerweile eine große Gruppe von Myopathien dar.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution

Institutional subscriptions

Similar content being viewed by others

Literatur

  • Blumen SC, Bouchard JP, Brais B et al (2009) Cognitive impairment and reduced life span of oculopharyngeal muscular dystrophy homozygotes. Neurology 73:596–601

    Article  CAS  Google Scholar 

  • Bonifati MD, Ruzza G, Bonometto P, Berardinelli A, Gorni K, Orcesi S, Lanzi G, Angelini C (2000) A multicenter, double-blind, randomized, trial of deflazacort versus prednisone in Duchenne muscular dystrophy. Muscle Nerve 23:1344–1347

    Article  CAS  Google Scholar 

  • Brais B, Bouchard JP, Xie YG et al (1998) Short GCG expansion in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nat Genet 18:164–167

    Article  CAS  Google Scholar 

  • Bushby K, Finkel R, Birnkrant DJ et al (2010a) Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol 9:77–93

    Article  Google Scholar 

  • Bushby K, Finkel R, Birnkrant DJ et al (2010b) Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care. Lancet Neurol 9:177–189

    Article  CAS  Google Scholar 

  • Davies JE, Wang L, Garcia-Oroz L et al (2005) Doxycycline attenuates and delays toxicity of the oculopharyngeal muscular dystrophy mutation in transgenic mice. Nat Med 11:672–677

    Article  CAS  Google Scholar 

  • Davies JE, Sarkar S, Rubinsztein DC (2006) Trehalose reduces aggregate formation and delays pathology in a transgenic mouse model of oculopharyngeal muscular dystrophy. Hum Mol Genet 15:23–31

    Article  CAS  Google Scholar 

  • De Sandre-Giovannoli A, Chaouch M, Kozlov S et al (2002) Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot–Marie–Tooth disorder type 2) and mouse. Am J Hum Genet 70:726–736

    Article  Google Scholar 

  • Deschauer M, Pushpa RJ, Gläser D, Hanisch F, Stoltenburg G, Zierz S (2011) Klinische und molekulargenetische Befunde der Muskeldystrophie mit Anoctamin 5-Mutationen. Nervenarzt 82:1596–1603

    Article  CAS  Google Scholar 

  • Eger K, Jordan B, Habermann S, Zierz S (2010) Beevor’s sign in facioscapulohumeral muscular dystrophy: an old sign with new implications. J Neurol 257:436–438

    Article  Google Scholar 

  • Feit H, Silbergleit A, Schneider L et al (1998) Vocal cord and pharyngeal weakness with autosomal distal myopathy: clinical description and gene localization to chromosome 5q31. Am J Hum Genet 63:1732–1744

    Article  CAS  Google Scholar 

  • Fischer D, Walter MC, Kesper K et al (2005) Diagnostic value ot muscle MRI in differentiating LGMD2I from other LGMDs. J Neurol 252:538–547

    Article  Google Scholar 

  • Gaul C, Deschauer M, Tempelmann C et al (2006) Cardiac involvement in limb-girdle muscular dystrophy 2I (LGMD2I) – conventional cardiac diagnostic and cardiovascular magnetic resonance (CMR. J Neurol 253:1317–1322

    Article  CAS  Google Scholar 

  • Guglieri M, Straub V, Bushby K, Lochmüller H (2008) Limb-girdle muscular dystrophies. Curr Opin Neurol 21:576–584

    Article  CAS  Google Scholar 

  • Hackman P, Vihola A, Haravuori H, Marchand S, Sarparanta J, De Seze J, Labeit S, Witt C, Peltonen L, Richard I, Udd B (2002) Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. Am J Hum Genet 71:492–500

    Article  CAS  Google Scholar 

  • Hanisch F, Grimm D, Zierz S, Deschauer M (2010) Frequency of the FKRP mutation c.826C>A in isolated hyperCKemia and limb girdle muscular dystrophy type 2 in German patients. J Neurol 257:300–301

    Article  Google Scholar 

  • Hassan A, Jones LK, Milone M, Kumar N (2012) Focal and other unusual presentations of facioscapulohumeral muscular dystrophy. Muscle Nerve 46:421–425

    Article  Google Scholar 

  • Hicks D, Sarkozy A, Muelas N et al (2011) A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy. Brain 134:171–182

    Article  Google Scholar 

  • Illa I, Serrano-Munuera C, Gallardo E, Lasa A, Rojas-Garcia R, Palmer J, Gallano P, Baiget M, Matsuda C, Brown RH Jr (2001) Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype. Ann Neurol 49:130–134

    Article  CAS  Google Scholar 

  • Krasnianski M, Neudecker S, Eger K, Schulte-Mattler W, Zierz S (2003a) Facioscapulohumeral muscular dystrophy. The spectrum of clinical manifestations and molecular genetic changes. Nervenarzt 74:151–158

    Article  CAS  Google Scholar 

  • Krasnianski M, Neudecker S, Eger K, Jakubiczka S, Zierz S (2003b) Atypical phenotypes in patients with FSHD 4q35 deletion. Arch Neurol 60:1421–1425

    Article  Google Scholar 

  • Kuhn M, Gläser D, Joshi PR, Zierz S, Wenninger S, Schoser B, Deschauer M (2016) Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy. J Neurol 263:743–750

    Article  CAS  Google Scholar 

  • Larsen M, Rost S, Kress W, El Hajj N, Ferbert A, Deschauer M, Walter MC, Tacik P, Müller CR (2015) Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1. Eur J Hum Genet 23:808–816

    Article  CAS  Google Scholar 

  • Lemmers RJ, van der VP, Klooster R et al (2010) A unifying genetic model for facioscapulohumeral muscular dystrophy. Science 329:1650–1653

    Article  CAS  Google Scholar 

  • Lemmers RJ, O’Shea S, Padberg GW et al (2012a) Best practice guidelines in genetic diagnostics of facioscapulohumeral muscular dystrophy. Neuromuscul Disord 22:463–470

    Article  Google Scholar 

  • Lemmers RJ, Tawil R, Petek LM et al (2012b) Digenic inhetiance o fan SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nat Genet 44:1370–1374

    Article  CAS  Google Scholar 

  • Liang WC, Mitsuhashi H, Keduka E, Nonaka I, Noguchi S, Nishino I, Hayashi YK (2011) TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy. Ann Neurol 69(6):1005–1013

    Article  CAS  Google Scholar 

  • Liu J, Aoki M, Illa I, Wu C, Fardeau M, Angelini C, Serrano C, Urtizberea JA, Hentati F, Hamida MB, Bohlega S, Culper EJ, Amato AA, Bossie K, Oeltjen J, Bejaoui K, McKenna-Yasek D, Hosler BA, Schurr E, Arahata K, de Jong PJ, Brown RH Jr (1998) Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet 20:31–36

    Article  CAS  Google Scholar 

  • Markesbery WR, Griggs RC, Leach RP, Lapham LW (1974) Related articles. Late onset hereditary distal myopathy. Neurology 24:127–134

    Article  CAS  Google Scholar 

  • Meredith C, Herrmann R, Parry C et al (2004) Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). Am J Hum Genet 75:703–708

    Article  CAS  Google Scholar 

  • Merideth MA, Gordon LB, Clauss S et al (2008) Phenotype and course of Hutchinson-Gilford progeria syndrome. N Engl J Med 358:592–604

    Google Scholar 

  • Mueller TJ, Kraya T, Stoltenburg G, Stock K, Deschauer M, Zierz S (2010) Matrin3-myopathy: distal and axial myopathy without vocal cord involvement. Clin Neurophysiol 121(Suppl 1):S306–S307

    Article  Google Scholar 

  • Müller T, Schröder R, Zierz S (2001) GCG repeats and phenotype in oculopharyngeal muscular dystrophy. Muscle Nerve 24:120–122

    Article  Google Scholar 

  • Müller T, Krasnianski M, Witthaut R, Deschauer M, Zierz S (2005) Dilated cardiomyopathy may be an early sign of the C826A Fukutin-related protein mutation. Neuromuscul Disord 15:372–376

    Article  Google Scholar 

  • Müller T, Deschauer M, Kolbe-Fehr F, Zierz S (2006) Genetic heterogeneity in 30 German patients with oculopharyngeal muscular dystrophy. J Neurol 253:892–895

    Article  Google Scholar 

  • Nguyen K, Bassez G, Krahn M et al (2007) Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes. Arch Neurol 64:1176–1182

    Article  Google Scholar 

  • Nigro V, Savarese M (2014) Genetic basis of limb-girdle muscular dystrophies: the 2014 update. Acta Myol 33:1–12

    CAS  PubMed  PubMed Central  Google Scholar 

  • Nonaka I, Sunohara N, Ishiura S, Satoyoshi E (1981) Familial distal myopathy with rimmed vacuoles and lamellar (myeloid) body formation. J Neurol Sci 51:141–151

    Article  CAS  Google Scholar 

  • Norwood F, de Visser M, Eymard B, EFNS Guideline Task Force et al (2007) EFNS guideline on diagnosis and management of limb girdle muscular dystrophies. Eur J Neurol 14:1305–1312

    Article  CAS  Google Scholar 

  • Norwood FL, Harling C, Chinnery PF, Eagle M, Bushby K, Straub V (2009) Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. Brain 132:3175–3186

    Article  Google Scholar 

  • Quijano-Roy S, Mbieleu B, Bonnemann CG et al (2008) De novo LMNA mutations cause a new form of congenital muscular dystrophy. Ann Neurol 64:177–186

    Article  Google Scholar 

  • Sarkozy A, Deschauer M, Schrank B et al (2012) Muscle MRI findings in limb girdle muscular dystrophy type 2L. Neuromuscul Disord 22:S122–S129

    Article  Google Scholar 

  • Selcen D, Engel AG (2005) Mutations in ZASP define a novel form of muscular dystrophy in humans. Ann Neurol 57:269–276

    Article  CAS  Google Scholar 

  • 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 (2009) Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3. Am J Hum Genet 84:511–518

    Article  CAS  Google Scholar 

  • Tomimitsu H, Shimizu J, Ishikawa K, Ohkoshi N, Kanazawa I, Mizusawa H (2004) Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant. Neurology 62:1607–1610

    Article  CAS  Google Scholar 

  • Udd B (2007) Molecular biology of distal muscular dystrophies – sarcomeric proteins on top. Biochim Biophys Acta 1772:145–158

    Article  CAS  Google Scholar 

  • Udd B, Kaarianen H, Somer H (1991) Muscular dystrophy with separate clinical phenotypes in a large family. Muscle Nerve 14:1050–1058

    Article  CAS  Google Scholar 

  • Udd B, Partanen J, Halonen P, Falck B, Hakamies L, Heikkila H, Ingo S, Kalimo H, Kaariainen H, Laulumaa V et al (1993) Tibial muscular dystrophy. Late adult-onset distal myopathy in 66 Finnish patients. Arch Neurol 50:604–608

    Article  CAS  Google Scholar 

  • Udd B, Vihola A, Sarparanta J, Richard I, Hackman P (2005) Related articles. Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J. Neurology 64:636–642

    Article  CAS  Google Scholar 

  • Vissing J (2016) Limb girdle muscular dystrophies: classification, clinical spectrum and emerging therapies. Curr Opin Neurol 29:635–641

    Article  CAS  Google Scholar 

  • Walter MC, Petersen JA, Stucka R et al (2004) FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients. J Med Genet 41:e50

    Article  CAS  Google Scholar 

  • Walter MC, Reilich P, Thiele S, Schessl J, Schreiber H, Reiners K, Kress W, Müller-Reible C, Vorgerd M, Urban P, Schrank B, Deschauer M, Schlotter-Weigel B, Kohnen R, Lochmüller H (2013) Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial. Orphanet J Rare Dis 8:26

    Article  Google Scholar 

  • Wang CH, Leung M, Liang WC et al (2012) Correlation between muscle involvement, phenotype and D4Z4 fragment size in facioscapulohumeral muscular dystrophy. Neuromuscul Disord 22:331–338

    Article  Google Scholar 

  • Zierz SF (2013) Muskelerkrankungen. Thieme, Stuttgart/New York

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Klinik und Poliklinik für Neurologie, Martin-Luther-Universität Halle-Wittenberg, Halle, Deutschland

    Torsten Kraya & S. Zierz

  2. Neurologische Klinik und Poliklinik, Technische Universität München, München, Deutschland

    Marcus Deschauer

Authors
  1. Torsten Kraya
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Marcus Deschauer
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. S. Zierz
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Torsten Kraya .

Editor information

Editors and Affiliations

  1. Essen, Germany

    Peter Berlit

Rights and permissions

Reprints and permissions

Copyright information

© 2018 Springer-Verlag GmbH Deutschland

About this entry

Check for updates. Verify currency and authenticity via CrossMark

Cite this entry

Kraya, T., Deschauer, M., Zierz, S. (2018). Progressive Muskeldystrophien und kongenitale Myopathien. In: Berlit, P. (eds) Klinische Neurologie. Springer Reference Medizin. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-44768-0_34-1

Download citation

  • DOI: https://doi.org/10.1007/978-3-662-44768-0_34-1

  • Received:

  • Accepted:

  • Published:

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-44768-0

  • Online ISBN: 978-3-662-44768-0

  • eBook Packages: Springer Referenz Medizin

Publish with us

Policies and ethics

Search

Navigation