Nervenheilkunde 2014; 33(10): 686-692
DOI: 10.1055/s-0038-1627736
Update
Schattauer GmbH

Myopathien

Myopathy
T. Kraya
1   Klinik und Poliklinik für Neurologie, Martin-Luther-Universität Halle-Wittenberg, Halle (Saale)
,
B. Jordan
1   Klinik und Poliklinik für Neurologie, Martin-Luther-Universität Halle-Wittenberg, Halle (Saale)
,
M. Kornhuber
1   Klinik und Poliklinik für Neurologie, Martin-Luther-Universität Halle-Wittenberg, Halle (Saale)
,
M. Deschauer
1   Klinik und Poliklinik für Neurologie, Martin-Luther-Universität Halle-Wittenberg, Halle (Saale)
,
S. Zierz
1   Klinik und Poliklinik für Neurologie, Martin-Luther-Universität Halle-Wittenberg, Halle (Saale)
› Author Affiliations
Further Information

Publication History

eingegangen am: 04 June 2014

angenommen am: 12 June 2014

Publication Date:
24 January 2018 (online)

Zusammenfassung

Fortschritte in der molekulargenetischen Diagnostik sowie Immunologie haben in vielen Bereichen der Myopathien zu einem besseren Verständnis der Pathogenese und zur Identifizierung neuer Entitäten geführt. Im Folgenden sollen neue Erkenntnisse bei neuromuskulären Erkrankungen dargestellt werden. Die ausgewählten Themen umfassen die Gliedergürtel-Muskeldystrophien, die Antikörperdiagnostik der seronegativen Myasthenia gravis, die statininduzierte Myopathie und fazioskapulohumerale Muskeldystrophie 2 sowie die Gruppe der distalen Myopathien.

Summary

Advances in molecular genetics and immunology resulted in a better understanding of pathogenic background and led to identification of new forms of muscle diseases. We present an update on limb-girdle-muscular dystrophies, diagnostic challenge of antibodies in myasthenia gravis, facioscapulohumeral muscular dystrophy 2, statin-induced myopathy and the distal myopathies.

 
  • Literatur

  • 1 Balduc V, Marlow G, Boycottet KM. et al. Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. Am J Hum Genet 2010; 86: 213-21.
  • 2 Brockington M, Yuva Y, Prandini P. et al. Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Hum Mol Genet 2001; 10: 2851-9.
  • 3 Christopher-Stine L. et al. A novel autoantibody recognizing 200-kd and 100-kd proteins is associated with an immune-mediated necrotizing myopathy. Arthritis Rheum 2010; 62 (09) 2757-66.
  • 4 de Greef JC, Lemmers RJ, Camano P. et al. Clinical features of facioscapulohumeral muscular dystrophy 2. Neurology 2010; 75: 1548-54.
  • 5 Deschauer M. et al. Klinische und molekulargenetische Befunde der Muskeldystrophie mit Anoctamin 5-Mutationen. Nervenarzt 2011; 82: 1596-603.
  • 6 Feit H, Silbergleit A, Schneider L. et al. Vocal cord and pharyngeal weakness with autosomal distal myopathy: clinical description and gene localization to chromosome 5q31. Am J Hum Genet 1998; 63: 1732-44.
  • 7 Fischer D, Walter MC, Kesper K. et al. Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs. J Neurol 2005; 252: 538-47.
  • 8 Gasperi C. et al. Anti-agrin autoantibodies in myasthenia gravis. Neurology 2014; 82 (22) 1976-83.
  • 9 Gaul C, Deschauer M, Tempelmann C. et al. Cardiac involvement in limb-girdle muscular dystrophy 2I (LGMD2I) – conventional cardiac diagnostic and cardiovascular magnetic resonance (CMR). J Neurol 2006; 253: 1317-22.
  • 10 Grable-Esposito P. et al. Immune-mediated necrotizing myopathy associated with statins. Muscle Nerve 2010; 41 (02) 185-90.
  • 11 Griggs R. et al. Zaspopathy in a large classic lateonset distal myopathy family. Brain 2007; 130: 1477-84.
  • 12 Gowers WR. A lecture on myopathy and a distal form. BMJ 1902; 02: 89-92.
  • 13 Hackman P. et al. Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1. Ann Neurol 2013; 73 (04) 500-9.
  • 14 Hanisch F, Müller CR, Grimm D. et al. Frequency of calpain-3 c.550delA mutation in limb girdle muscular dystrophy type 2 and isolated hyperCKemia in German patients. Clin Neuropath 2007; 26: 157-63.
  • 15 Hanisch F, Grimm D, Zierz S, Deschauer M. Frequency of the FKRP mutation c.826C>A in isolated hyperCKemia and limb girdle muscular dystrophy type 2 in German patients. J Neurol 2010; 257: 300-1.
  • 16 Higuchi O. et al. Autoantibodies to low-density lipoprotein receptor-related protein 4 in myasthenia gravis. Ann Neurol 20011; 69 (02) 418-22.
  • 17 Jordan B, Müller-Reible C, Zierz S. Fazioskapulohumerale Muskeldystrophie: Klinik, Atypien, Diagnostik, Genetik. Nervenarzt 2011; 82: 712-22.
  • 18 Joshi PR. et al. Anoctamin 5 muscular dystrophy associated with a silent p.Leu115Leu mutation resulting in exon skipping. Neuromuscul Disord 2014; 24: 43-47.
  • 19 Kim N. et al. Lrp4 is a receptor for Agrin and forms a complex with MuSK. Cell 2008; 135 (02) 334-42.
  • 20 Kraya T. et al. Myofibrillary myopathy due to the ZASP mutation Ala147Thr: Two caseswith exclusively distal leg involvement. Nervenarzt 2013; 84 (02) 209-13.
  • 21 Kraya T, Zierz S. Distal myopathies: from clinical classification to molecular understanding. J Neural Transm 2013; 120 Suppl 1: S3-7.
  • 22 Laing NG. et al. Autosomal dominant distal myopathy: linkage to chromosome 14. Am J Hum Genet 1995; 56 (02) 422-7.
  • 23 Leite M. et al. IgG1 antibodies to acetylcholine receptors in ‘seronegative’ myasthenia gravis. Brain 2008; 131 (Pt 7): 1940-52.
  • 24 Markesbery WR. et al. Related articles, late onset hereditary distal myopathy. Neurology 1974; 24: 127-34.
  • 25 Meriggioli MN, Sanders D. Muscle autoantibodies in myasthenia gravis: beyond diagnosis?. Expert Rev Clin Immunol 2012; 08 (05) 427-38.
  • 26 Milhorat AT, Wolff HG. Studies in diseases of muscle XIII: progressive muscular dystrophy of atrophic distal type; report of a family; report of autopsy. Arch Neurol Psychiatry 1943; 49: 655-4.
  • 27 Mohassel P, Mammen A. Statin-associated autoimmune myopathy and anti-HMGCR autoantibodies. Muscle Nerve 2013; 48 (04) 477-83.
  • 28 Müller T. et al. Dilated cardiomyopathy may be an early sign of the C826A Fukutin-related protein mutation. Neuromuscul Disord 2005; 15: 372-6.
  • 29 Norwood FL. et al. Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. Brain 2009; 132: 3175-86.
  • 30 Pevzner AB. et al. Anti-LRP4 autoantibodies in AChR- and MuSK-antibody-negative myasthenia gravis. J Neurol 2012; 259: 427-35.
  • 31 Richard I, Broux O, Allamand V. et al. Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. Cell 1995; 81: 27-40.
  • 32 Sacconi S, Lemmers RJ, Balog J. et al. The FSHD2 gene SMCHD1 is a modifier of disease sverity in families affected by FSDH1. Am J Hum Genet 2013; 93: 744-51.
  • 33 Sarkozy A, Deschauer M, Schrank B. et al. Muscle MRI findings in limb girdle muscular dystrophy type 2L. Neuromuscul Disord 2012; 22: S122-S129.
  • 34 Selcen D, Engel AG. Mutations in ZASP define a novel form of muscular dystrophy in humans. Ann Neurol 2005; 57: 269-76.
  • 35 Sjöberg G, Saavedra-Matiz C, Rosen D. et al. A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation. Hum Mol Genet 1999; 08: 2191-8.
  • 36 Strach K. et al. ZASPopathy with childhood-onset distal myopathy. J Neurol 2012; 259 (07) 1494-6.
  • 37 Udd B. Distal myopathies – new genetic entities expand diagnostic challenge. Neuromuscul Disord 2012; 22 (01) 5-12.
  • 38 Vincent A. et al. Myasthenia gravis seronegative for acetylcholine receptor antibodies. Ann N Y Acad Sci 2008; 1132: 84-92.
  • 39 Welander L. Myopathia distalis tarda hereditaria. Acta Med Scand 1951; 141 (suppI 265): 1-124.
  • 40 Wijmenga C, Hewitt JE, Sandkuijl LA. et al. Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nat Genet 1992; 02: 26-30.
  • 41 Zhang B. et al. Autoantibodies to lipoprotein-related protein 4 in patients with double-seronegative myasthenia gravis. Arch Neurol 2012; 69 (04) 445-51.
  • 42 Zisimopoulou P. et al. A comprehensive analysis of the epidemiology and clinical characteristics of anti-LRP4 in myasthenia gravis. J Autoimmun. 2013 Dec 24. pii: S0896–8411(13)00151–0.doi: 10.1016/j.jaut.2013.12.004
  • 43 Zouvelou V. et al. AChR-myasthenia gravis switching to double-seropositive several years after the onset. J Neuroimmunol 2013; 267 (1–2): 111-2.
  • 44 Traynor BJ. et al. Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis. Nat Neurosci 2014; 17 (05) 664-6.