Advertisement

Metabolisch und hormonell bedingte Myopathien

  • J. M. Schröder

Zusammenfassung

Die Glykogenspeicherkrankheiten oder Glykogenosen bilden eine Gruppe erblicher Stoffwechselkrankheiten, deren systematische Nummerierung durch Cori (1957) sich weitgehend durchgesetzt hat, aber inzwischen ergänzt worden ist (Typ I–XII; vgl. Tabellen 32.1 und 36.1). Weitere mögliche Formen einer Glykogenose sind auf Enzymdefekte der Phosphoglyceratkinase (Typ IX) und -mutase (Typ X), der Laktatdehydrogenase (Typ XI), der Aldolase A (Typ XII) oder auf multiple Enzymdefekte zurückzuführen (DiMauro u. Haller 1999). Dabei können unterschiedliche Mutationen des zugrunde liegenden Gens zu einer unterschiedlichen klinischen Ausprägung des Krankheitsbildes, z. B. der Phosphoglyceratkinase (Schröder et al. 1996) führen.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Literatur

  1. Adams R D (1975) Diseases of muscle. A study in pathology, 3rd edn. Harper & Row, New YorkGoogle Scholar
  2. Anagnos A, Ruff R L, Kaminski H J (1997) Endocrine neuromyopathies. Neurol Clin 15: 673–696PubMedCrossRefGoogle Scholar
  3. Ausems M G, ten Berg K, Beemer F A, Wokke J H (2000) Phenotypic expression of late-onset glycogen storage disease type II: identification of asymptomatic adults through family studies and review of reported families. Neuromusc Disord 10: 467–471Google Scholar
  4. Bardosi A, Creutzfeldt W, DiMauro S et al. (1987) Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorder. Acta Neuropathol 74: 248–258PubMedCrossRefGoogle Scholar
  5. Barohn R J, Brumback R A, Mendell J R (1994) Hyaline body myopathy. Neuromusc Disord 4: 257–262PubMedCrossRefGoogle Scholar
  6. Bestetti G, Zemp C, Probst D, Rossi G L (1981) Neuropathy and myopathy in the diaphragm of rats after 12 months of streptozotocin-induced diabetes mellitus. A light-, electron- microscopic, morphometric study. Acta Neuropathol 55: 11–20Google Scholar
  7. Bradley W G, Hudgson P, Gardner-Medwin D, Walton J N (1969) Myopathy associated with abnormal lipid metabolism in skeletal muscle. Lancet 1: 495–498PubMedCrossRefGoogle Scholar
  8. Campos Y, Huertas R, Lorenzo G et al. (1993) Plasma carnitine insufficiency and effectiveness of L-carnitine therapy in patients with mitochondrial myopathy. Muscle Nerve 16: 150–153PubMedCrossRefGoogle Scholar
  9. Carrozzo R, Hirano M, Fromenty B et al. (1998) Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses. Neurology 50: 99–106PubMedGoogle Scholar
  10. Chanarin I, Patel A, Slavin G, Wills E J, Andrews T M, Stewart G (1975) Neutral-lipid storage disease: a new disorder of lipid metabolism. BMJ 1: 553–555PubMedCrossRefGoogle Scholar
  11. Chinnery P F, Johnson M A, Wardell T M et al. (2000) The epidemiology of pathogenic mitochondrial DNA mutations. Ann Neurol 48: 188–193PubMedCrossRefGoogle Scholar
  12. Clark A F, Vignos P J Jr (1979) Experimental corticosteroid myopathy: effect on myofibrillar ATPase activity and protein degradation. Muscle Nerve 2: 265–273PubMedCrossRefGoogle Scholar
  13. De Vries D D, Buzing C J, Ruitenbeek W et al. (1992) Myopathology and a mitochondrial DNA deletion in the Pearson marrow and pancreas syndrome. Neuromusc Disord 2: 185–195PubMedCrossRefGoogle Scholar
  14. DiDonato S, Gellera C, Peluchetti D, Uziel G, Antonelli A, Lus G, Rimoldi M (1989) Normalization of short-chain acylcoenzyme A dehydrogenase after riboflavin treatment in a girl with multiple acylcoenzyme A dehydrogenase-deficient myopathy. Ann Neurol 25: 479–484CrossRefGoogle Scholar
  15. DiMauro S (1992) Mitochondrial encephalomyopathies. Brain Pathol 2: 111–112CrossRefGoogle Scholar
  16. DiMauro S (2000) Introduction: mitochondrial encephalomyopathies. Brain Pathol 10: 419–421CrossRefGoogle Scholar
  17. DiMauro S, Andreu AL (2000) Mutations in mtDNA: are we scraping the bottom of the barrel? Brain Pathol 10: 431–441CrossRefGoogle Scholar
  18. DiMauro S, DiMauro P M (1973) Muscle carnitine palmityl-transferase deficiency and myoglobinuria. Science 182: 929–931CrossRefGoogle Scholar
  19. DiMauro S, Haller R G (1999) Metabolic myopathies: substrate use defects. Butterworth-Heinemann, OxfordCrossRefGoogle Scholar
  20. DiMauro S, Trevisan C, Hays A (1980) Disorders of lipid metabolism in muscle. Muscle Nerve 3: 369–388Google Scholar
  21. Drachman D A (1968) Ophthalmoplegia plus. The neurodegenerative disorders associated with progressive external ophthalmoplegia. Arch Neurol 18: 654–674PubMedGoogle Scholar
  22. Engel W K (1971) Raggedred fibers in ophthalmoplegia syndromes and their differential diagnosis. Excerpta Medica, Amsterdam (Int Congr Ser 237 )Google Scholar
  23. Engel A G, Angelini C (1973) Carnitine deficiency of human skeletal muscle with associated lipid storage myopathy: a new syndrome. Science 179: 899–902PubMedCrossRefGoogle Scholar
  24. Engel W K, Cunningham C G (1963) Rapid examination of muscle tissue: An improved trichrome stain method for fresh-frozen biopsy sections. Neurology 13: 919–923Google Scholar
  25. Goebel H H, Zeman W, Pilz H (1975) Significance of muscle biopsies in neuronal ceroid-lipofuscinoses. J Neurol Neurosurg Psychiatry 38: 985–993PubMedCrossRefGoogle Scholar
  26. Goebel H H, Shin Y S, Gullotta F et al. (1992) Adult polyglucosan body myopathy. J Neuropathol Exp Neurol 51: 24–35PubMedCrossRefGoogle Scholar
  27. Gullotta F, Stefan H, Mattern H (1976) Pseudodystrophic muscle glycogenosis in adults (acid maltase deficiency syndrome). J Neurol 213: 199–216PubMedCrossRefGoogle Scholar
  28. Haginoya K, Miyabayashi S, Iinuma K, Tada K (1990) Mosaicism of mitochondria in mitochondrial myopathy: an electronmicroscopic analysis of cytochrome c oxidase. Acta Neuropathol 80: 642–648PubMedCrossRefGoogle Scholar
  29. Hammans S R, Sweeney M G, Brockington M, Morgan-Hughes J A, Harding A E (1991) Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples (see comments). Lancet 337: 1311–1313PubMedCrossRefGoogle Scholar
  30. Hammersen F, Gidlof A, Larsson J, Lewis D H (1980) The occurrence of paracrystalline mitochondrial inclusions in normal human skeletal muscle. Acta Neuropathol 49: 35–41PubMedCrossRefGoogle Scholar
  31. Hanzlikova V, Gutmann E (1978) Effect of castration and testosterone administration on the neuromuscular junction in the levator ani muscle of the rat. Cell Tissue Res 189: 155–166PubMedCrossRefGoogle Scholar
  32. Harding A E (1991) Neurological disease and mitochondrial genes. Trends Neurosci 14: 132–138PubMedCrossRefGoogle Scholar
  33. Hirano M, Silvestri G, Blake D M et al. (1994) Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, genetic features of an autosomal recessive mitochondrial disorder. Neurology 44: 721–727PubMedGoogle Scholar
  34. Holt I J, Harding A E, Morgan-Hughes J A (1988) Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 331: 717–719PubMedCrossRefGoogle Scholar
  35. Jerusalem F, Zierz S (1991) Muskelkrankheiten. Klinik-Therapie — Pathologie, 2. Aufl. Thieme, StuttgartGoogle Scholar
  36. Jerusalem F, Angelini C, Engel A G, Groover RV (1973) Mitochondria-lipid-glycogen (MLG) disease of muscle. A morphologically regressive congenital myopathy. Arch Neurol 29: 162–169Google Scholar
  37. Kaufmann P, el-Schahawi M, DiMauro S (1997) Carnitine palmitoyltransferase II deficiency: diagnosis by molecular analysis of blood. Mol Cell Biochem 174: 237–239PubMedCrossRefGoogle Scholar
  38. Kearns T P, Sayre G P (1958) Retinitis pigmentosa, external ophthalmoplegia, and complete heart block: Unusual syndrome with histologic study in one of two cases. Arch Ophthalmol 60: 280Google Scholar
  39. Kott E, Delpre G, Kadish U, Dziatelovsky M, Sandbank U (1977) Abetalipoproteinemia (Bassen-Kornzweig syndrome). Muscle involvement. Acta Neuropathol (Berl) 37: 255–258Google Scholar
  40. Lossos A, Meiner Z, Barash V et al. (1998) Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene. Ann Neurol 44: 867–872PubMedCrossRefGoogle Scholar
  41. Mastaglia F L, Walton S J (1992) Skeletal muscle pathology, 2nd edn. Churchill Livingstone, EdinburghGoogle Scholar
  42. McKeran R O, Slavin G, Ward P, Paul E, Mair W G (1980) Hypothyroid myopathy. A clinical and pathologaical study. J Pathol 132: 35–54Google Scholar
  43. Miranda A, DiMauro S, Eastwood A et al. (1979) Lipid storage myopathy, ichthyosis, and steatorrhea. Muscle Nerve 2: 1–13PubMedCrossRefGoogle Scholar
  44. Molnar M, Schröder J M (1998) Pleomorphic mitochondrial and different filamentous inclusions in inflammatory myopathies associated with mtDNA deletions. Acta Neuropathol (Berl) 96: 41–51CrossRefGoogle Scholar
  45. Nezu J, Tamai I, Oku A et al. (1999) Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter. Nat Genet 21: 91–94PubMedCrossRefGoogle Scholar
  46. Nishino I, Fu J, Yamada T et al. (2000) Primary LAMP-2 deficiency causes vacuolar cardiomyopathy, myopathy and mental retardation (Danon’s disease). Nature 406: 906–910PubMedCrossRefGoogle Scholar
  47. Nishino I, Spinazzola A, Hirano M (1999) Thymidine Phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 283: 689–692PubMedCrossRefGoogle Scholar
  48. Olson W, Engel W K, Walsh G O, Einaugler R (1972) Oculocraniosomatic neuromuscular disease with “ragged-red” fibers. Arch Neurol 26: 193–211PubMedGoogle Scholar
  49. Patten B M, Bilezikian J P, Mallette L E, Prince A, Engel W K, Aurbach G D (1974) Neuromuscular disease in primary hyperparathyroidism. Ann Intern Med 80: 182–193PubMedGoogle Scholar
  50. Pleasure D E, Walsh G O, Engel W K (1970) Atrophy of skeletal muscle in patients with Cushing’s syndrome. Arch Neurol 22: 118–25PubMedGoogle Scholar
  51. Schapira A H V, DiMauro S (1994) Mitochondrial disorders in neurology. Butterworth-Heinemann, OxfordGoogle Scholar
  52. Schröder J M ( 1982 ) Pathologie der Muskulatur. Springer, Berlin Heidelberg New YorkGoogle Scholar
  53. Schröder J M (1993) Neuropathy associated with mitochondrial disorders. Brain Pathol 3: 177–190PubMedCrossRefGoogle Scholar
  54. Schröder J M (1999) Pathologie peripherer Nerven. Springer, Berlin Heidelberg New York TokyoCrossRefGoogle Scholar
  55. Schröder J M, Krämer G, Rothmund M, Hopf H C (1981) Selektive Kalksalzablagerungen in der motorischen Endplatte bei Hyperparathyreoidismus. Akt Neurol 8: 124–126CrossRefGoogle Scholar
  56. Schröder J M, Weber R, Weyhenmeyer S, Lammers-Reissing A, Meurers B, Reichmann H (1991) Adult onset lipid storage in gastric mucosa and skeletal muscle fibers associated with gastric pain, progressive muscle weakness and partial deficiency of cytochrome C oxidase. Pathol Res Pract 187: 85–95PubMedGoogle Scholar
  57. Schröder J M, May R, Shin Y S, Sigmund M, Nase-Hüppmeier S (1993) Juvenile hereditary polyglucosan body disease with complete branching enzyme deficiency (type IV glycogenosis). Acta Neuropathol 85: 419–430PubMedCrossRefGoogle Scholar
  58. Schröder J M, Dodel R, Weis J, Stefanidis I, Reichmann H (1996) Mitochondrial changes in muscle phosphoglycerate kinase deficiency. Clin Neuropathol 15: 34–40PubMedGoogle Scholar
  59. Shy G M, Gonatas N K, Perez M (1966) Two childhood myopathies with abnormal mitochondria. Brain 89: 133–158PubMedCrossRefGoogle Scholar
  60. Smeitink J, Stadhouders A, Sengers R, Ruitenbeek W, Wevers R, ter Laak H, Trijbels F (1992) Mitochondrial creatine kinase containing crystals, creatine content and mitochondrial creatine kinase activity in chronic progressive external ophthalmoplegia. Neuromusc Disord 2: 35–40PubMedCrossRefGoogle Scholar
  61. Tein I, De Vivo D C, Hale D E et al. (1991) Short-chain L-3- hydroxyacyl-CoA dehydrogenase deficiency in muscle: a new cause for recurrent myoglobinuria and encephalopathy. Ann Neurol 30: 415–419PubMedCrossRefGoogle Scholar
  62. Tomé F M, Fardeau M (1976) Ultrastructural study of a muscle biopsy in a case of GM1 gangliosidosis type I. Pathol Eur 11: 15–25PubMedGoogle Scholar
  63. Tomé F M, Fardeau M, Lenoir G (1977) Ultrastructure of muscle and sensory nerve in Fabry’s disease. Acta Neuropathol (Berl) 38: 187–194CrossRefGoogle Scholar
  64. Trevisan C P, Reichmann H, DeVivo D C, DiMauro S (1985) Beta-oxidation enzymes in normal human muscle and in muscle from a patient with an unusual form of myopathic carnitine deficiency. Muscle Nerve 8: 672–675PubMedCrossRefGoogle Scholar
  65. Tsuruta Y, Furuta A, Furuta K, Yamada T, Kira J-I, Iwaki T (2001) Expression of the lysosome-associated membrane proteins in myopathies with rimmed vacuoles. Acta Neuropathol 101: 579–584PubMedGoogle Scholar
  66. Vassilopoulos D, Lumb E M, Corrall R J, Emery A E (1976) Muscle karyometry in diabetic neuropathy. J Neurol 213: 257–261PubMedCrossRefGoogle Scholar
  67. Verderio E, Cavadini P, Montermini L et al. (1995) Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations. Hum Mol Genet 4: 19–29PubMedCrossRefGoogle Scholar
  68. Weis J, Schröder J M (1988) Adult polyglucosan body myopathy with subclinical peripheral neuropathy: case report and review of diseases associated with polyglucosan body accumulation. Clin Neuropathol 7: 271–279PubMedGoogle Scholar
  69. Weis J, Dimpfel W, Schröder J M (1995) Nerve conduction changes and fine structural alterations of extra- and intrafusal muscle and nerve fibers in streptozotocin diabetic rats. Muscle Nerve 18: 175–184PubMedCrossRefGoogle Scholar
  70. Zeviani M, Servidei S, Gellera C, Bertini E, DiMauro S, Di-Donato S (1989) An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. Nature 339: 309–311PubMedCrossRefGoogle Scholar
  71. Ziemssen F, Sindern E, Schröder J M et al. (2000) Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease. Ann Neurol 47: 536–540PubMedCrossRefGoogle Scholar
  72. Zintz R (1966) Dystrophische Veränderungen in den äußeren Augenmuskeln und Schultermuskeln bei der sog. progressiven Graefeschen Ophthalmoplegie. In: Kuhn E (Hrsg) Progressive Muskeldystrophie, Myotonie, Myasthenie. Springer, Berlin Heidelberg New York, pp 109–114Google Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2002

Authors and Affiliations

  • J. M. Schröder

There are no affiliations available

Personalised recommendations