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Therapie der Krankheiten des Kindesalters pp 859–884Cite as

Muskelerkrankungen

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Zusammenfassung

Jeder Skelettmuskel kann isoliert oder in Kombination mit anderen bei der Geburt fehlen oder hypoplastisch sein. Am häufigsten betroffen sind der Reihenfolge nach der M. pectoralis, der M. trapezius, M. quadratus femoris und der M. serratus anterior. Die Anomalien sind meist einseitig. Die Beeinträchtigung der Patienten ist abhängig von der funktionellen Bedeutung des betreffenden Muskels; Wirbelsäulen- und Gelenkdeformierungen, Thoraxasymmetrie sowie Haltungs- und Bewegungsstörungen können die Folge sein. Die Ätiologie der Muskeldefekte ist unbekannt, familiäre Häufung bestimmter Defekte kommt vor. Pathogenetisch kann es sich ebenso um Störungen der spinalen Motoneurone oder der peripheren Nerven handeln wie um primäre Störungen der Muskelzellen in der frühen Fetalperiode, etwa vor der 9.–10. Lebenswoche.

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Literatur

  1. David TJ, Winter RM (1985) Familial absence of the pectoralis major, serratus anterior, and latissimus dorsi muscles. J Med Genet 22: 390–392.

    Article  PubMed  CAS  Google Scholar 

  2. Hageman G, Ippel EPF, Beemer FA et al. (1988) The diagnostic management of newborns with congenital contractures — a neurologic and genetic study of 75 cases. Am J Med Genet 30: 883–904.

    Article  PubMed  CAS  Google Scholar 

  3. Hall JG (1990) Arthrogryposis (multiple congenital contractures). In: Emery AEH, Rimoin DL (eds) Principles and practice of medical genetics, 2nd edn, vol 2. Churchill Livingstone, Edinburgh London Melbourne New York, pp 989–1035.

    Google Scholar 

  4. Hegde HR, Leung AKC (1989) Aplasia of pectoralis major muscle and renal anomalies. Am J Med Genet 32: 109–111.

    Article  PubMed  CAS  Google Scholar 

  5. Hopkins PM, Ellis FR, Halsall PJ (1991) Hypermetabolism in arthrogryposis multiplex congenita. Anaesthesia 46: 374–375.

    Article  PubMed  CAS  Google Scholar 

  6. Lafferty PM, Emmerson AJ, Fleming PJ, Frank JD, Noblett HR (1989) Anterior abdominal wall defects. Arch Dis Child 64: 1029–1031.

    Article  PubMed  CAS  Google Scholar 

  7. Moessinger AC (1983) Fetal hypokinesia deformation sequence: an animal model. Pediatrics 72: 857–863.

    PubMed  CAS  Google Scholar 

  8. Nelson KB, Eng GD (1972) Congenital hypoplasia of the depressor anguli oris muscle. Differentiation from congenital facial palsy. J Pediat 81: 16–20.

    Article  PubMed  CAS  Google Scholar 

  9. Pesch R, Krauspe R (1992) Arthrogryposis multiplex congenita. Diagnostik, Therapie, Prognose. Pädiat Prax 44: 123–134.

    Google Scholar 

  10. Pouliquen JC, Beneux J, Penneçot GF (1988) Schulterblatthochstand. In: Pouliquen JC, Beneux J, Penneçot GF (Hrsg) Die Kinderorthopädische Sprechstunde. Schattauer, Stuttgart, S 38–39.

    Google Scholar 

  11. Sarnat HB, Morrissy RT (1981) Idiopathic torticollis: Sternocleidomastoid myopathy. Muscle Nerve 4: 374–380.

    Article  PubMed  CAS  Google Scholar 

  12. Solund K, Sonne-Holm S, Kjolbye JE (1991) Talectomy for equinovarus deformity in arthrogryposis. A 13 (2-20) year review of 17 feet. Acta Orthop Scand 62: 372–374.

    Article  PubMed  CAS  Google Scholar 

  13. Reitter B (1987) Congenital hypotonia — benign? Eur J Pediatr 146: 363–364.

    Article  Google Scholar 

  14. Stephanie U, Hanefeld F (1981) Muskuläre Hypotonie im Kindesalter: Pathophysiologie und Klinik. In: Ewerbeck H (Hrsg) Pädiatrie, Weiter-und Fortbildung. Springer, Berlin Heidelberg New York, S 40–82.

    Google Scholar 

  15. Swaiman KF (1989) Muscular tone. In: Pediatric neurology. Principles and practice. Swaiman KF (ed) Mosby, St. Louis Baltimore Toronto, pp 193–198.

    Google Scholar 

  16. Angelini C, Pegoraro, Perini F, Turella E, Intimo M, Pini A, Ottolini A, Costa C (1991) A trial with a new steroid in Duchenne muscular dystrophy. In: Angelini C et al. (eds) Muscular dystrophy research. Elsevier, Amsterdam, pp 173–179.

    Google Scholar 

  17. Baumbach LL, Chamberlain JS, Ward PA et al (1989) Molecular and clinical correlations of deletions leading to Duchenne and Becker muscular dystrophies. Neurology (New York) 39: 465–474.

    Article  CAS  Google Scholar 

  18. Breucking E, Mortier W (1990) Anaesthesia in neuromuscular diseases. Acta Anaesth Belg 41: 63–68.

    Google Scholar 

  19. Brooke MH, Fenichel GM, Griggs RC et al (1989) Duchenne muscular dystrophy: patterns of clinical progression and effects of supportive therapy. Neurology (New York) 39: 475–481.

    Article  CAS  Google Scholar 

  20. Burrow KL, Coovert DD, Klein CJ, Bulman DE, Kissel JT, Rammohan KW, Burghes AH, Mendell JR (1991) Dystrophin expression and somatic reversion in prednisone-treated and untreated Duchenne dystrophy. CIDD study group. Neurology (Minneapolis) 41: 661–666.

    Article  CAS  Google Scholar 

  21. Darras BT, Koneing M, Kunkel LM, Francke U (1988) Direct method for prenatal diagnosis and carrier detection in Duchenne/Becker muscular dystrophy using the entire dystrophien cDNA. Am J Hum Genet 29: 713–726.

    CAS  Google Scholar 

  22. Fenichel GM, Mendell JR, Moxley RT, Griggs RC, Brooke MH, Miller JPh, Pestronk A, Robison J, King W, Signore L, Pandya Sh, Florence J, Schierbecker J, Wilson B (1991) A comparison of Duchenne muscular dystrophy. Arch Neurol 48: 575–579.

    Article  PubMed  CAS  Google Scholar 

  23. Forst R (1988) Orthopädische Behandlung neuromuskulärer Erkrankungen. In: Mortier W et al (Hrsg) Akutelle Aspekte neuromuskulärer Erkrankungen. Thieme, Stuttgart S, 18–23.

    Google Scholar 

  24. Griggs RC, Moxley RT, Mendell JR, Fenichel BM, Brooke MH, Pestronk A, Miller JP and the Clinical Investigation of Duchenne Dystrophy Group (1991) Prednisone in Duchenne dystrophy. A randomized, controlled trial defining the time course and dose response. Arch Neurol (Chic) 48: 383–388.

    Article  CAS  Google Scholar 

  25. Hoffmann EP, Kunkel LM, Angelini C et al (1989) Improved diagnosis of Becker muscular dystrophy by dystrophin testing. Neurology (New York) 39: 1011–1017.

    Article  Google Scholar 

  26. Mesa LE, Dubrovsky AL, Corderi u. Mitarb. (1991) Steroids in Duchenne musclar dystrophy — deflazacort trial. Neuromusc Disorders 1: 261–266.

    Article  PubMed  CAS  Google Scholar 

  27. Mortier W, Pothmann R, Kunze K (Hrsg) (1989) Aktuelle Aspekte neuromuskulärer Erkrankungen. Therapie, Früherkennung, Genetik, Mitochondriopathien. Thieme, Stuttgart, S 2–131.

    Google Scholar 

  28. Partridge TA (1991) Invited review: myoblast transfer: a possible therapy for inherited myopathies. Muscle Nerve 14: 197–212.

    Article  PubMed  CAS  Google Scholar 

  29. Rideau Y (1987) New therapeutic propositions in muscular dystrophy. Update in muscle disease. Royal Postgraduate School of Medicine. Hammersmith Hospital London, 23–26 February.

    Google Scholar 

  30. Sklar RM, Brown RH (1991) Methylprednisolone increases dystrophin levels by inhibiting myotube death during myogenesis of normal human muscle in vitro. J Neurol Sci 101: 73–81.

    Article  PubMed  CAS  Google Scholar 

  31. Wolff JA, Malon RW, Williams Ph, Chong W, Acsadi G, Jani A, Feigner PhL (1990) Direct gene transfer into mouse muscle in vivo. Science 247: 1465–1468.

    Article  PubMed  CAS  Google Scholar 

  32. Al-Rajeh S, Iyer V, Olson WH (1989) Effect of diltiazem on 2,4-D-induced myotonia in rats. Muscle Nerve 12: 470–472.

    Article  PubMed  CAS  Google Scholar 

  33. Camerino DC, De Luca A, Mambrini M et al (1989) The effects of taurine on pharmacologically induced myotonia. Muscle Nerve 12: 898–904.

    Article  Google Scholar 

  34. Dalakas MC, Engel WK (1983) Treatment of “permanent” muscle weakness in familial hypokalemic periodic paralysis. Muscle Nerve 6: 182–186.

    Article  PubMed  CAS  Google Scholar 

  35. Fontaine B, Khurana T, Hoffman E et al (1990) Hyperkalemic periodic paralysis and the adult muscle sodium channel α-subunit gene. Science 250: 1000–1002.

    Article  PubMed  CAS  Google Scholar 

  36. Kuhn E (1988) Therapie metabolischer Myopathien. In: Mortier W et al (Hrsg) Aktuelle Aspekte neuromuskulärer Erkrankungen. Thieme, Stuttgart, S 123–126.

    Google Scholar 

  37. Ptacek LJ, Trimmer JS, Agnew WS et al (1991) Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium-channel gene locus. Am J Human Genet 49: 851–854.

    CAS  Google Scholar 

  38. Ranklev E, Fletcher R (1990) Treatment of malignant hyperthermia. In: Mortier W, Breucking E (eds) Malignant hyperthermia, neuromuscular diseases and anaesthesia. Thieme, Stuttgart, S 92–98.

    Google Scholar 

  39. Reimers CD, Pongratz DE, Gross M et al (1988) Symptomatische Therapie des primären Myoadenylat-Deaminase-Mangels sowie der Glykogenose Typ. V mit D-Ribose. In: Mortier W et al (Hrsg) Aktuelle Aspekte neuromuskulärer Erkrankungen. Thieme, Stuttgart, S 127–130.

    Google Scholar 

  40. Ricker K (1988) Therapie der Myotonien und periodischen Paresen. In: Mortier W et al (Hrsg) Aktuelle Aspekte neuromuskulärer Erkrankungen. Thieme, Stuttgart, S 42–47.

    Google Scholar 

  41. Rüdel R, Ruppersberg JP, Spittelmeister W (1989) Abnormalities of the fast sodium current in myotonic dystrophy, recessive generalized myotonia and adynamia episodica. Muscle Nerve 12: 281–287.

    Article  PubMed  Google Scholar 

  42. Scholte HR, Luyt-Houwen IE, Vaandragerverduin MH (1987) The role of the carnitine system in myocardial fatty acid oxidation: carnitine deficiency, failing mitochondria and cardiomyopathy. Basic Res Cardiol 82(Suppl l): 63–73.

    PubMed  CAS  Google Scholar 

  43. Steinmeyer K, Klocke R, Ortland C, et al (1991) In-activation of muscle chloride channel by transposon insertion in myotonic mice. Nature (London) 354: 304–308.

    Article  CAS  Google Scholar 

  44. Trijbels F, Sengers R, Ruitenbeek W, Backeren J (1988) Untersuchungsverfahren und Therapieversuche bei Patienten mit Defekten der Atmungskette. In: Mortier W et al (Hrsg) Aktuelle Aspekte neuromuskulärer Erkrankungen. Thieme, Stuttgart, S 276–281.

    Google Scholar 

  45. Umpleby AM, Wiles CM, Trend PS et al (1987) Protein turnover in acid maltase deficiency before and after treatment with a high protein diet. J Neurol Neurosurg Psychiat 50: 587–592.

    Article  PubMed  CAS  Google Scholar 

  46. Siehe Kap. 17.4:, S. 875.

    Google Scholar 

  47. Berger RG, Featherstone GL, Raasch RH et al (1987) Treatment of calcinosis universalis with low-dose warfarin. Am J Med 83: 72–76.

    Article  PubMed  CAS  Google Scholar 

  48. Bowyer SL, Blane CE, Sullivan DB, Cassidy JT (1983) Childhood dermatomyositis: Factors predicting functional outcome and development of dystrophic calcification. J Pediat 103: 882–888.

    Article  PubMed  CAS  Google Scholar 

  49. Cherin P, Herson S, Wechsler B et al (1991) Efficacy of intravenous gammaglobulin therapy in chronic refractory polymyositis and dermatomyositis: an open study with 20 adult patients. Am J Med 91: 162–168.

    Article  PubMed  CAS  Google Scholar 

  50. Christensen ML, Pachman LM, Schneiderman R et al (1986) Prevalence of Coxsackie B virus antibodies in patients with juvenile dermatomyositis. Arthritis Rheum 29: 1365–1370.

    Article  PubMed  CAS  Google Scholar 

  51. Dalakas MC (1991) Polymyositis, dermatomyositis, and inclusion-body myositis. N Engl J Med 325: 1487–1498.

    Article  PubMed  CAS  Google Scholar 

  52. Dwyer JM (1992) Manipulating the immune system with immune globulin. N Engl. J Med 326: 107–116.

    Article  PubMed  CAS  Google Scholar 

  53. Engel AG, Arahata K (1984) Monoclonal antibody analysis of mononuclear cells myopathies. II: Phenotypes of autoinvasive cells in polymyositis and inclusion body myositis. Ann Neurol 16: 209–215.

    Article  PubMed  CAS  Google Scholar 

  54. Feutren G, Mihatsch MJ (1992) Risk factors for cyclosporine-induced nephropathy in patients with autoimmune diseases. N Engl J Med 326: 1654–1660.

    Article  PubMed  CAS  Google Scholar 

  55. Fleisch H (1987) Experimental basis for the use of biphosphonates in Paget’s disease. Clin Orthop 217: 72–78.

    PubMed  Google Scholar 

  56. Goel KM, King M (1986) Dermatomyositis. Polymyositis in children. Scott Med J 31: 15–19.

    PubMed  CAS  Google Scholar 

  57. Heckmatt J, Hasson N, Saunders et al (1989) Cyclosporine in juvenile dermatomyositis. Lancet I: 1063–1066.

    Article  Google Scholar 

  58. McDouall RM, Dunn MJ, Dubowitz V (1989) Expression of class I and class II MHC antigens in neuromuscular dieseases. J Neurol Sci 89: 213–226.

    Article  PubMed  CAS  Google Scholar 

  59. Reimers CD, Müller W, Neuber U et al (1988) Noduläre Herdmyositis: Behandelbare Spätkomplikation bei Borrellia burgdorferi-Infektion. In: Mortier W et al (Hrsg) Aktuelle Aspekte neuromuskulärer Erkrankungen. Thieme, Stuttgart, S. 64–67.

    Google Scholar 

  60. Scuterud E, Sydnes OA, Haavik TK (1981) Calcinosis in dermatomyositis treated with probenecid. Scand J Rheumatol 10: 92–94.

    Article  Google Scholar 

  61. Silver RM, Maricq HR (1989) Childhood dermatomyositis. Serial microvascular studies. Pediatrics 83: 278–283.

    PubMed  CAS  Google Scholar 

  62. Vassella F (1988) Polymyositis im Kindesalter. In: Mortier W et al (Hrsg) Aktuelle Aspekte neuromuskulärer Erkrankungen. Thieme, Stuttgart, S 50–57.

    Google Scholar 

  63. Wang WJ, Lo WL, Wong CK (1988) Calcinosis cutis in juvenile dermatomyositis: remarkable response to aluminium hydroxide therapy. Arch Dermatol 124: 1721–1722.

    Article  PubMed  CAS  Google Scholar 

  64. Annoh T, Torisu M (1989) Immunologic studies on myasthenia gravis. II: A new chemotactic factor for lymphocytes found in patients with myasthenia gravis. Surgery 105: 615–624.

    PubMed  CAS  Google Scholar 

  65. Batocchi AP, Evoli A, Palmisani MT et al (1990) Early-onset myasthenia gravis: clinical characteristics and response to therapy. Eur J Pediat 150: 66–68.

    Article  CAS  Google Scholar 

  66. Buchmann P, Bumbacher B, Geroulanos S, Largiader F (1989) Stellenwert der Thymektomie bei der Myasthenia gravis. Helv Chir Acta 55: 553–558.

    PubMed  CAS  Google Scholar 

  67. Eymard B, Vernet-der-Garabedian B, Berrih-Aknin S et al. (1991) Anti-acetylcholine receptor antibodies in neonatal myasthenia gravis: heterogeneity and pathogenic significance. J Autoimmun 4: 185–195.

    Article  PubMed  CAS  Google Scholar 

  68. Fenichel GM (1989) Myasthenia gravis. Pediatr Ann 18: 432–438.

    PubMed  CAS  Google Scholar 

  69. Hatton PD, Diehl JT, Daly BD et al (1989) Transsternal radical thymectomy for myasthenia gravis: a 15 year review. Ann Thorac Surg 47: 838–840.

    Article  PubMed  CAS  Google Scholar 

  70. Hohlfeld R (1989) Neurological autoimmune disease and the trimolecular complex of T-lymphocytes. Ann Neurol 25: 531–538.

    Article  PubMed  CAS  Google Scholar 

  71. Kuks JB, Oosterhuis HJ, Limburg PC et al (1991) Anti-acetylcholine receptor antibodies decrease after thymectomy in patients with myasthenia gravis. Clinical correlations. J Autoimmun 4: 197–211.

    Article  PubMed  CAS  Google Scholar 

  72. Liblau R, Gajdos P, Bustarret FA et al (1991) Intravenous gamma-globulin in myasthenia gravis: interaction with anti-acetylcholine receptor autoantibodies. J Clin Immunol 11: 128–131.

    Article  PubMed  CAS  Google Scholar 

  73. Matthes JWA, Kenna AP, Fawcett PRW (1991) Familial infantile myasthenia: a diagnostic problem. Dev Med Child Neurol 33: 912–929.

    Google Scholar 

  74. Melms A, Malcherek G, Gern U et al (1992) T cells from normal and myasthenic individuals recognize the human acetylcholine receptor: Heterogeneity of antigenic sites on the α-subunit. Ann Neurol 31: 311–318.

    Article  PubMed  CAS  Google Scholar 

  75. Protti MP, Manfredi AA, Howard JF et al (1991) T cells in myasthenia gravis specific for embryonic acetylcholine receptor. Neurology (NY) 41: 1809–1814.

    Article  CAS  Google Scholar 

  76. Schalke BCG, Kappos L, Rohrbach E et al (1988) Ciclosporin in der Behandlung der Myasthenia gravis — Ergebnisse einer kontrollierten, doppeltblind geführten Therapiestudie Ciclosporin A vs. Azathioprin. In: Mortier W et al (Hrsg) Aktuelle Aspekte neuromuskulärer Erkrankungen. Thieme, Stuttgart, S 73–76.

    Google Scholar 

  77. Toyka KV (1988) Therapie der Myasthenia gravis. In: Mortier W et al. (Hrsg) Aktuelle Aspekte neuromuskulärer Erkrankungen. Thieme, Stuttgart, S 68–72.

    Google Scholar 

  78. Wokke JHJ, Jennekens FGI, Molenaar PC et al (1989) Congenital paucity of secondary synaptic clefts (CPSC) syndrome in 2 adult sibs. Neurology (NY) 39: 648–654.

    Article  CAS  Google Scholar 

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  1. W. Mortier
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  1. Kinderpoliklinik, Ludwig-Maximilians-Universität, Pettenkoferstraße 8a, D-80336, München, Deutschland

    Dietrich Reinhardt (Direktor) (Direktor)

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© 1994 Springer-Verlag Berlin Heidelberg

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Mortier, W. (1994). Muskelerkrankungen. In: Reinhardt, D. (eds) Therapie der Krankheiten des Kindesalters. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-22535-6_17

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  • DOI: https://doi.org/10.1007/978-3-662-22535-6_17

  • Publisher Name: Springer, Berlin, Heidelberg

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