Muskelerkrankungen

  • W. Mortier

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 Gelenksdeformierungen, 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. 1.
    Bell JF, Kuhlmann RF, Molloy MK (1967) Congenital defects of shoulder girdle, sternum, spine and pelvis. Pediatr Clin N Am 14: 397Google Scholar
  2. 2.
    Becker PE (1964) Angeborene Muskeldefekte. In: Becker PE (Hrsg) Humangenetik, Bd III/1. Thieme, Stuttgart, S 527–534Google Scholar
  3. 3.
    Bernbeck R, Dahmen G (1976) Deformitäten im 8. SchröderJM (1982) Pathologie der Muskulatur. Schulterbereich. Thieme, Stuttgart, S 280–285 Springer, Berlin Heidelberg New York, S 387–388Google Scholar
  4. 4.
    Dick W, Jani L (1976) Die konservative Frühbe- 9. Tachdjian MO (1967) Diagnosis and treatment of handlung des muskulären Schiefhalses. Orthopädi congenital deformities of the musculoskeletal sys-sche Praxis 12: 866 tem in the newborn and the infant. Pediatr Cl in NGoogle Scholar
  5. 5.
    Gucker T (1967) Muscular defects. Pediatr Clin N Am 14: 307 Am 14: 439 10.Google Scholar
  6. 6.
    Welch KK (1966) Abdominal musculature deficien-6. Nelson KB, Eng GD (1972) Congenital hypoplasie cy syndrom. In: Mustard WT et al. (eds) Pediatric of the depressor anguli oris muscle. Differentiation surgery, 2nd edn, vol 2. Year Book Medical Publ., from congenital facial palsy. J Pediatr 81: 16–20 New York, pp 1191–1203Google Scholar
  7. 7.
    Sarnat HB, Morrissy RT (1981) Idiopathic torti- 11. Wirth CJ, Hagena FW (1983) Der muskuläre collis: Sternocleidomastoid myopathy. Muscle Schiefhals. In: Aktuelle Probleme in Chirurgie und Nerve 4: 374–380Google Scholar
  8. 8.
    Schröder JM (1982) pathologie der Muskulatur. Springer, Berlin Heidelberg New York, S387–388CrossRefGoogle Scholar
  9. 9.
    Tachdjian MO(1967) Diagnosis and treatment of comgnital deformities of the musculoskeletal system in the newborn and the infant. Pediatr Clin N Am 14:307Google Scholar
  10. 10.
    Welch KK (1966) Abdominal musculature deficiency syndrome. In: Mustard WT et al. (eds) Pediatric surgery, 2 nd edn, vol 2. Yeat Book Medical Publ., New York, pp 1191–1203Google Scholar
  11. 11.
    Wirth CJ, Hagena FW (1983) Der muskuläRT Schiefhals. In: Aktuelle Probleme in Chirurgie und Orthopädie, Bd 27. Huber, Bern Stuttgart WienGoogle Scholar
  12. 1.
    Dubowitz V (1969) The floppy infant. In: Clinics in developmental medicin, Nr. 31. Spastics Intern. Med. Publ. Heinemann, LondonGoogle Scholar
  13. 2.
    Hirt HR (1973) Muskeltonus. In: Matthes A, Kruse R (Hrsg) Neuropädiatrie. Thieme, Stuttgart, S 67Google Scholar
  14. 3.
    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 40–82Google Scholar
  15. 1.
    Becker PE (1972) Neues zur Genetik und Klassifikation der Muskeldystrophien. Hum Genet 17: 1CrossRefGoogle Scholar
  16. 2.
    Chyatte SB, Rudman D, Patterson JH, Gerron GG, O’Breine I, Jordan A, Shavin JS (1973) Human growth hormone and estrogens in boys with Duchenne muscular dystrophy. Arch Phys Med Rehabi154: 248Google Scholar
  17. 3.
    Cohen L, Morgan J, Balsamo R (1974) Duchenne’s muscular dystrophy: Serum enzyme and isoenzyme changes associated with diethylstilbestrol administration. Int Congr on muscular diseases. Excerpta Medical, Amsterdam Princeton London Geneva Tokyo, p 157Google Scholar
  18. 4.
    Drachman DB, Toyka KV, Myer E (1974) Prednisone in Duchenne muscular dystrophy. Lancet II: 1409Google Scholar
  19. 5.
    Dubowitz V (1978) Muscle disorders in childhood. Saunders, London Philadelphia Toronto, p 19Google Scholar
  20. 6.
    Emery AEH, Skinner R, Howden LC, Matthews MB (1982) Verapamil in Duchenne muscular dystrophy. Lancet I: 559Google Scholar
  21. 7.
    Heyck H, Laudahn G (1969) Die progressiv-dystrophischen Myopathien. Springer, Berlin Heidelberg New YorkCrossRefGoogle Scholar
  22. 8.
    Mortier W (1981) Progressive Muskeldystrophien. In: Hopf HC et al. (Hrsg) Neurologie in Klinik und Praxis. Thieme, Stuttgart, S 134–162Google Scholar
  23. 9.
    Rideau Y (1984) The treatment of scoliosis in Duchenne muscular dystrophy. Muscle Nerve 7: 281–286PubMedCrossRefGoogle Scholar
  24. 10.
    Ringel SP, Stern LZ et al. (1980) Randomized, double-blind, placebo-controlled trial of ontosein (su-peroxyde dismutase) in Duchenne muscular dystrophy. In: Angelini C, Danieli GA, Hontanari D (eds) Muscular dystrophy research: Excerpta Medica, Amsterdam Oxford Princeton, p 198Google Scholar
  25. 11.
    Siegel JM (1977) Prolongation of ambulation through early percutaneous tenotomy and bracing with plastic orthoses. Israel J Med Sci 13: 192PubMedGoogle Scholar
  26. 12.
    Siegel IM (1978) The management of muscular dystrophy. A clinical review. Muscle Nerve 1: 453PubMedCrossRefGoogle Scholar
  27. 13.
    Stern ML, Fewings JD et al. (1981) The progression of Duchenne muscular dystrophy: Clinical trial of allopurinol therapy. Neurology (NY) 31: 422–426Google Scholar
  28. 14.
    Walton JN, Gardner-Medwin D (1981) Progressive muscular dystrophy and myotonic disorders. In: Walton JN (ed) Disorders of voluntary muscle. Churchill-Livingstone, Edinburgh London, p 481Google Scholar
  29. 1.
    Birnberger KL, Rtidel R (1974) Improvement of myotonic disorders with N-propyl-ajmaline and its possible neurophysiologic basis. In: Bradley WG (ed) Internat. Congress Series Nr. 334. Excerpta Medica, Amsterdam Princeton London Geneva Tokyo, p 157Google Scholar
  30. 2.
    Britt BA (1982) Malignant hyperthermia: a review. In: Milton AS (ed) Pyretics and antipyretics. Springer, Berlin Heidelberg New York (Handb Exp Pharmacol, vol 60, pp 547–615 )Google Scholar
  31. 3.
    Dalakas MC, Engel WK (1983) Treatment of „permanent“ muscle weakness in familial hypocalemic periodic paralysis. Muscle Nerve 6: 182–186PubMedCrossRefGoogle Scholar
  32. 4.
    Durelli L, Mutani R, Fassio F, Sarra A, Bartoli E (1982) Taurine and hyperexitable human muscle: Effects of taurine on potassium-induced hyperexcita-bility of dystrophic myotonic and normal muscles. Ann Neurol 11: 258–265Google Scholar
  33. 5.
    Engel AG, Siekert RG (1972) Lipid storage myopathy responsive to prednisone. Arch Neurol (Chic) 27: 174CrossRefGoogle Scholar
  34. 6.
    Lehmann-Horn F, Rudel R, Ricker K, Lorkovic H, Dengler R, Hopf HC (1983) Two cases of adynamia episodica hereditaria: in vitro investigation of muscle cell membrane and contraction parameters. Muscle Nerve 6: 113–121PubMedCrossRefGoogle Scholar
  35. 7.
    McArdle B (1974) Metabolic and endocrine myopathies. In: Walton JN (ed) Disorders of voluntary muscle. Churchill Livingstone, Edinburgh London, p 726Google Scholar
  36. 8.
    Mortier W (1981) Kongenitale Myopathien und Muskelhypotonie. In: Hopf HC et al. (Hrsg) Neurologie in Klinik und Praxis. Thieme, Stuttgart, p 1.3–1. 33Google Scholar
  37. 9.
    Mortier W, Biesel C (1982) Pharmacological in-vitro Studies in malignant hyperthermia in childhood. Brain Dev 4: 347–52PubMedCrossRefGoogle Scholar
  38. 10.
    Ricker K, Böhlen R, Rohkamm R (1983) Different effectiveness of tocainide and hydrochlorothiazide in paramyotonia congenita with hyperkalemic episodic paralysis. Neurology (Cleveland) 33: 1615–1618CrossRefGoogle Scholar
  39. 11.
    Rudel R, Lehmann-Horn F, Ricker K, Kiither G (1984) Hypokalemic periodic paralysis: In vitro in-vestigation of muscle fiber membrane parameters. Muscle Nerve 7: 110–120Google Scholar
  40. 12.
    Schimrigk K (1981) Metabolische Myopathien. In: Hopf HC et al. (Hrsg) Neurologie in Klinik und Praxis. Thieme, Stuttgart, S 1.96–1. 109Google Scholar
  41. 13.
    Scholte HR, Meijer AEFH, van Wijngaarden GK, Leenders KL (1979) Familial carnitine deficiency. J Neurol Sci 42: 87PubMedCrossRefGoogle Scholar
  42. 14.
    Schrott E, Karo L, Osmann GS (1973) Prenatal prediction in myotonic dystrophy: guidelines for genetic counseling. Clin Genet 4: 38PubMedCrossRefGoogle Scholar
  43. 15.
    Schuh FT (1981) Maligne Hyperthermie, Soforttherapie und Vorgehen bei erneuter Narkose. Dtsch Med Wochenschr 106: 1431–1432PubMedCrossRefGoogle Scholar
  44. 16.
    Stovner J, Innes KR, Holen A (1976) Ten cases of malignent hyperthermia in Norway. Can Anaesth Soc J 23: 518PubMedCrossRefGoogle Scholar
  45. 17.
    Viskoper RJ, Wolf E, Chaco J, Katz R, Chowers J (1975) McArdle’s Syndrome: the reaction to a fatrich diet. Am J Med Sci 269: 217PubMedCrossRefGoogle Scholar
  46. 18.
    Yates DAH (1970) Steroid myopathy. In: Walton JN, Canal N, Scarlato G (Eds) Muscle diseases. Excerpta Medica, Amsterdam, pp 482–488Google Scholar
  47. 1.
    Bohan A, Peter JB (1975) Polymyositis and dermatomyositis. N Engl J Med 292: 344, 403PubMedCrossRefGoogle Scholar
  48. 2.
    Dau PC, Bennington JL (1981) Plasmapheresis in 8. childhood dermatomyositis. J Pediatr 98: 237–240PubMedCrossRefGoogle Scholar
  49. 3.
    Dubowitz V (1978) Muscle disorders in childhood. 9. Saunders, London Philadelphia Toronto, p 202Google Scholar
  50. 4.
    Fischer TJ, Rachelefsky GS, Klein RB, Paulus HE, Stiehm ER (1979) Childhood dermatomyositis and polymyositis. Am J Dis Child 133: 386 10.Google Scholar
  51. 5.
    Jacobs JC (1977) Methotrexate and azathioprine treatment of childhood dermatomyositis. Pediatrics 59: 212 11.Google Scholar
  52. 6.
    Mertens HG, Lurati M (1975) Immunsuppressive Behandlung der polymyositis. Dtsch Med Wochenschr 100: 1CrossRefGoogle Scholar
  53. 7.
    Metzger AL, Bohan A, Goldberg LS et al. (1974) Polymyositis and dermatomyositis: combined methotrexate and corticosteroid therapy. Ann Intern Med 81: 82CrossRefGoogle Scholar
  54. 8.
    MillerJJ (1973) Late progression in dermatomyositis in childhood. J Pediatr 83: 543PubMedCrossRefGoogle Scholar
  55. 9.
    Schnakenburg von K, Groß-Selbeck G, Wiedemann HR (1972) Zur Behandlung der Fibrodysplasia ssificans progressiva mit „Diphosphonat“ ( EHDP ). Dtsch Med Wochenschr 97: 1873Google Scholar
  56. 10.
    Skuterud E, Sydnes OA, Haavik TK (1981) Calcinosis in dermatomyositis treated with probenecid. Scand J heumatol 10: 92–94CrossRefGoogle Scholar
  57. 10.
    Stögmann W (1972) Erfahrungen in der Behandlung der Dermatomyositis mit Immunsuppressiva. Pädiatr ädiol 7: 305Google Scholar
  58. 1.
    Fenichel GM (1978) Clinical syndromes of myasthenia in infancy and childhood. A review. Arch Neurol 35: 97–103PubMedCrossRefGoogle Scholar
  59. 2.
    Fischer KC, Schwartzmann RI (1974) Oral corticosteroids in the treatment of ocular myasthenia. Neurology (Minneap) 24: 364CrossRefGoogle Scholar
  60. 3.
    Fonkalskud EW, Herrmann C jr, Mulder DG (1970) Thymectomie for myasthenia gravis in children. J Pediatr Surg 5: 157CrossRefGoogle Scholar
  61. 4.
    Hansson O, Johannsson L, Stalberg E, Wester-holm CJ (1972) Thymektomie in juvenile myasthenia gravis. Neuropädiatrie 3: 429CrossRefGoogle Scholar
  62. 5.
    Hertel G, Mertens HG, Ricker K, Schimrigk K (1977) Myasthenia gravis. Thieme, StuttgartGoogle Scholar
  63. 6.
    Karch D, Mortier W, Kauther K (1981) Therapeutische Probleme bei der Myasthenia gravis im Kindesalter. In: Hirt HR (Hrsg) Aktuelle Neuropädiatrie, Bd III. Thieme, Stuttgart, S 170–176Google Scholar
  64. 7.
    Newsom-Davis J, Pinching Ai, Vincent A et al. (1978) Function of circulating antibody to acetylcholine receptor in myasthenia gravis: Investigation by plasma exchange. Neurology 28: 266–272Google Scholar
  65. 8.
    Ryniewicz O, Badurska B (1977) Follow-up study of myasthenic children after thymectomy. J Neurol 217 /2: 133PubMedCrossRefGoogle Scholar
  66. 9.
    Sarnat HB, McGarry JD, Lewis JE (1977) Effective treatment of infantile myasthenia gravis by combined prednisone and thymectomy. Neurology 27 /6: 550PubMedCrossRefGoogle Scholar
  67. 10.
    Seybold ME, Lindstrom JM (1981) Myasthenia gravis in infancy. Neurology (NY) 31: 476–480Google Scholar

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© Springer-Verlag Berlin Heidelberg 1985

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  • W. Mortier

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