Summary
Biopsies from three patients with different clinical and pathological stages of myotonic dystrophy were studied by phase and electron microscopy. Large sarcoplasmic masses and spiral annulets were prominent in Cases 1 and 2 while in Case 3, featured clinically by atrophic weakness, they were infrequent. In the latter the residual fibers were either large and dystrophic or small and atrophic.
Electron microscopically, nearly all components of the muscle cell, in places, were involved in the dystrophic or atrophic process, such as myofilaments, Z discs, triads, nucleic, mitochondria, and the sarcolemma. In addition, cytoplasmic cysts, multilammellated bodies, and lipofuscin granules were observed. The most characteristic feature of the disease were sarcoplasmic masses, filled with varying amounts of disoriented myofilaments and other sarcoplasmic components. Disoriented myofibrils often encircled the remaining core of normal myofibrils, thus forming the striated annulets (Ringbinden). Several other abnormalities, not previously reported in myotonic dystrophy or any other myopathy, were identified in slightly dystrophic as well as in severaly atrophic fibers. These were large, homogenous lacunes derived from the sarcoplasmic reticulum and peculiar geometric arrangements of terminal cisternae. The origin of some other structures remains obscure. The relation of the dystrophic process to segmental degeneration and atrophy, the principal histologic findings in Steinert's disease, is unsettled since segmental necrosis was not observed in our samples for phase and electron microscopy.
Zusammenfassung
Das Biopsiematerial von drei Patienten mit unterschiedlichen klinischen und pathologischen Stadien der myotonischen Dystrophie wurde phasenkontrast-und elektronenmikroskopisch untersucht. Beim 1. und 2. Fall waren “sarkoplasmatische Massen” und “Ringbinden” besonders zahlreich, während sie beim 3. Fall mit klinisch erheblich fortgeschrittener Muskelatrophie nur ausnahmsweise vorkamen.
Elektronenmikroskopisch erschienen fast alle Elemente der Muskelfasern, zumindest an einigen Stellen, von dem atrophischen oder dystrophischen Prozeß betroffen: Myofilamente, Z-Streifen, Triaden, Kerne, Mitochondrien und Sarkolemm. Außerdem fanden sich cytoplasmatische Cysten, multilamellierte Körperchen, zahlreiche Lipofuscingranula und verschiedene andere abnorme Strukturen. Besonders kennzeichnend für die Erkrankung waren die “sarkoplasmatischen Massen”, die mit variablen Mengen von fehlorientierten Myofilamenten, aber auch von anderen Komponenten der Muskelzelle ausgefüllt waren. Die Ringbinden wurden von fehlorientierten Myofibrillen gebildet, indem sie meist kreisförmig die im Zentrum normal ausgerichteten Myofibrillen umschlossen. Einzelne Veränderungen, die bisher weder bei der myotonischen Dystrophie noch in irgendeiner anderen Muskelkrankheit nachgewiesen worden sind, konnten in leicht dystrophischen wie auch in hochgradig atrophischen Fasern nachgewiesen und identifiziert werden: Große homogene Lacunen, die sich vom sarkoplasmatischen Reticulum herleiten und eigenartige geometrische Anordnungen der terminalen Cisternen. Der Ursprung bestimmter anderer Strukturen blieb unklar.
In unserem Material fanden sich keine segmentalen Nekrosen, so daß sich die Relation des dystrophischen Prozesses zur Zenkerschen Degeneration und zur Atrophie, den nach histologischen Untersuchungen wesentlichsten Befunden bei der Steinertschen Erkrankung, nicht eindeutig bestimmen ließ.
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From the Experimental Neuropathology Laboratories (Neurology service), Massachusetts General Hospital, and the Department of Neurology-Neuropathology, Harvard Medical School.
This study was supported by a Research Grant (NB 03789-05) from the National Institute of Neurological Diseases and Blindness, Bethesda, Maryland 20014, and a Fellowship from the Max Kade Foundation, New York.
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Schröder, J.M., Adams, R.D. The ultrastructural morphology of the muscle fiber in myotonic dystrophy. Acta Neuropathol 10, 218–241 (1968). https://doi.org/10.1007/BF00687725
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DOI: https://doi.org/10.1007/BF00687725