Zusammenfassung
Die myotonischen Erkrankungen bestehen aus einer Gruppe von heterogenen, zumeist erblichen Krankheiten, denen das Symptom Myotonie gemeinsam ist. Einige davon werden jetzt den Ionenkanalkrankheiten zugerechnet, nämlich die dominant und die rezessiv erbliche Myotonia congenita, die Paramyotonia congenita und die hyper- und die hypokaliämische periodische Paralyse, wobei auch letztere mit myotonen Symptomen kombiniert Scin können. Darüber hinaus gibt es eine weitere, lebensgefährliche Muskelkrankheit, die wiederum als Ionenkanalkrankheit identifiziert werden konnte, die aber nicht mit myotonischen Symptomen verbunden ist, nämlich die maligne Hyperthermie. Demgegenüber beruht die myotonische Dystrophie auf einem Defekt der Myotoninproteinkinase, nicht aber primär auf einer Ionenkanalstörung.
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Literatur
Araki M, Takagi A, Higuchi I, Sugita H (1988) Neuroleptic malignant syndrome: caffeine contracture of single muscle fibers and muscle pathology (see comments). Neurology 38: 297–301
Bergman R A, Afifi A K, Dunkle L M, Johns R J (1970) Muscle pathology in hypokalemic periodic paralysis with hyperthyroidism. II. A light and electron microscopic study. Johns Hopkins Med J 126: 100–118
Borenstein S, Noel P, Jacquy J, Flamentdurand J (1977) Myotonic dystrophy with nerve hypertrophy. Report of a case with electrophysiological and ultrastructural study of the sural nerve. J Neurol Sci 34: 87–99
Brook J D, McCurrach M E, Harley H G et al. (1992) Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3’ end of a transcript encoding a protein kinase family member. Cell 69: 385
Brugnoni R, Morandi L, Brambati B, Briscioli V, Cornelio F, Mantegazza R (1998) A new non-radioactive method for the screening and prenatal diagnosis of myotonic dystrophy patients. J Neurol 245: 289–293
Cao A, Cianchetti C, Calisti L, de Virgiliis S, Ferreli A, Tangheroni W (1978) Schwartz-Jampel syndrome. Clinical, J. M. Schröder: Kapitel 35 Myotonische Erkrankungen und lonenkanalkrankheiten electrophysiological and histopathological study of a severe variant. J Neurol Sci 35: 175–187
Crow S R, Harley H G, Brook J D, Rundle S A, Shaw D J (1992) Insertion/deletion polymorphism at D19S95 associated with the myotonic dystrophy CTG repeat. Hum Mol Genet 1: 451
Day J W, Roelofs R, Leroy B, Pech I, Benzow K, Ranum L P (1999) Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2). Neuromusc Disord 9: 19–27
Denborough M A, Dennett X, Anderson R M (1973) Centralcore disease and malignant hyperpyrexia. BMJ 1: 272–273
Denborough M A, Lowell R R H (1960) Anesthetic death in a family. Lancet II: 45
Dieler R, Schröder J M (1990) Lacunar dilatations of intrafusal and extrafusal terminal cisternae, annulate lamellae, confronting cisternae and tubulofilamentous inclusions within the spectrum of muscle and nerve fiber changes in myotonic dystrophy. Pathol Res Pract 186: 371–382
Ebers G C, George A L, Barchi R L et al. (1991) Paramyotonia congenita and hyperkalemic periodic paralysis are linked to the adult muscle sodium channel gene. Ann Neurol 30: 810–816
Eng G D, Epstein B S, Engel W K, McKay D W, McKay R (1978) Malignant hyperthermia and central core disease in a child with congenital dislocating hips. Arch Neurol 35: 189–197
Engel A G (1970) Evolution and content of vacuoles in primary hypokalemic periodic paralysis. Mayo Clin Proc 45: 774–814
Eriksson M, Ansved T, Edstrom L, Anvret M, Carey N (1999) Simultaneous analysis of expression of the three myotonic dystrophy locus genes in adult skeletal muscle samples: the CTG expansion correlates inversely with DMPK and 59 expression levels, but not DMAHP levels. Hum Mol Genet 8: 1053–1060
Fu Y H, Pizzuti A, Fenwick R G Jr et al. (1992) An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 255: 1256–1258
Gharehbaghi-Schnell E B, Finsterer J, Korschineck I, Mamoli B, Binder B R (1998) Genotype-phenotype correlation in myotonic dystrophy. Clin Genet 53: 20–26
Harley H G, Brook J D, Rundle S A et al. (1992 a) Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy (see comments). Nature 355: 545–546
Harley H G, Rundle S A, Reardon W et al. (1992b) Unstable DNA sequence in myotonic dystrophy. Lancet 339: 1125–1128
Heene R (1973) Histological and histochemical findings in muscle spindles in dystrophia myotonica. J Neurol Sci 18: 369–372
Iaizzo P A, Franke C, Hatt H, Spittelmeister W, Ricker K, Rudel R, Lehmann-Horn F (1991) Altered sodium channel behaviour causes myotonia in dominantly inherited myotonia congenita. Neuromusc Disord 1: 47–53
Koch M C, Steinmeyer K, Lorenz C et al. (1992) The skeletal muscle chloride channel in dominant and recessive human myotonia. Science 257: 797–800
Kress W, Mueller-Myhsok B, Ricker K et al. (2000) Proof of genetic heterogeneity in the proximal myotonic myopathy syndrome (PROMM) and its relationship to myotonic dystrophy type 2 (DM2). Neuromusc Disord 10: 478–480
Kuhn E, Fiehn W, Sciler D, Schröder J M (1979) The autosomal recessive ( Becker) form of myotonia congenita. Muscle Nerve 2: 109–117
Liquori C L, Ricker K, Moseley M L, Jacobsen J F, Kress W, Naylor S L, Day J W, Ranum L P (2001) Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science 293: 864–867
Mahadevan M, Tsilfidis C, Sabourin L et al. (1992) Myotonic dystrophy mutation: an unstable CTG repeat in the 3’ un-translated region of the gene. Science 255: 1253–1255
Maynard J A, Cooper R R, Ionaescu V V (1977) An ultrastructure investigation of intrafusal muscle fibers in myotonic dystrophy. Virchows Arch A 373: 1–13
Monnier N, Procaccio V, Stieglitz P, Lunardi J (1997) Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle (see comments). Am J Hum Genet 60: 1316–1325
Nicole S, Ben Hamida C, Beighton P et al. (1995) Localization of the Schwartz-Jampel syndrome (SJS) locus to chromosome Ip34–p36.1 by homozygosity mapping. Hum Mol Genet 4: 1633–1636
Pavone L, Mollica F, Grasso A, Cao A, Gullotta F (1978) Schwartz-Jampel syndrome in two daughters of first cousins. J Neurol Neurosurg Psychiatry 41: 161–169
Pollock M, Dyck P J (1976) Peripheral nerve morphometry in myotonic dystrophy. Arch Neurol 33: 33–39
Ptacek L J, Trimmer J S, Agnew W S, Roberts J W, Petajan J H, Leppert M (1991) Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium-channel gene locus. Am J Hum Genet 49: 851–854
Ptacek L J, Gouw L, Kwiecinski H et al. (1993) Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis. Ann Neurol 33: 300–307
Reardon W, Harley H G, Brook J D, Rundle S A, Crow S, Harper P S, Shaw D J (1992) Minimal expression of myotonic dystrophy: a clinical and molecular analysis. J Med Genet 29: 770–773
Resnick J S, Dorman J D, Engel W K (1969) Thyrotoxic periodic paralysis. Am J Med 47: 831–836
Robinson R L, Monnier N, Wolz W et al. (1997) A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees. Hum Mol Genet 6: 953–961
Rosman N P, Rebeiz J J (1967) The cerebral defect and myopathy in myotonic dystrophy. A comparative clinicopathological study. Neurology 17: 1106–1112
Rüdel R, Hanna, M G, Lehmann-Horn F (1999) Muscle channelopathies: malignant hyperthermia, periodic paralyses, paramyotonia, and myotonia. In: Schapira A H V, Griggs R C (eds) Muscle diseases, vol 24. Blue Books of Practical Neurology, pp 135–175
Schmalbruch H (1979) A freeze-fracture study of the plasma membrane of muscle fibres of a patient with chronic creatine kinase elevation suspected for malignant hyperthermia. J Neuropathol Exp Neurol 38: 407–418
Schröder J M (1982) Pathologie der Muskulatur. Springer, Berlin Heidelberg New York
Schröder J M, Adams R D (1968) The ultrastructural morphology of the muscle fiber in myotonic dystrophy. Acta Neuropathol (Berl) 10: 218–241
Schröder J M, Becker P E (1972) Anomalien des T-Systems und des sarkoplasmatischen Retikulums bei der Myotonie, Paramyotonie und Adynamie. Virchows Arch A Pathol Pathol Anat 357: 319–344
Spranger J, Hall B D, Hane B, Srivastava A, Stevenson R E (2000) Spectrum of schwartz-jampel syndrome includes micromelic chondrodysplasia, kyphomelic dysplasia, burton disease. Am J Med Genet 94: 287–295
Walton J N, Irving D, Tomlinson B E (1977) Spinal cord limb motor neurons in dystrophia myotonica. J Neurol Sci 34: 199–211
Wang J-F, Schröder J M (1999) Comparative morphometric evaluation of peripheral nerves and muscle fibers in myotonic dystrophy. Acta Neuropathol 99: 39–47
Wedel D J (1992) Malignant hyperthermia and neuromuscular disease. Neuromusc Disord 2: 157–164
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Schröder, J.M. (2002). Myotonische Erkrankungen und lonenkanalkrankheiten. In: Peiffer, J., Schröder, J.M., Paulus, W. (eds) Neuropathologie. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-59371-0_35
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