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Hereditäre motorische und sensible Neuropathien

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Monogen bedingte Erbkrankheiten 1

Part of the book series: Handbuch der Molekularen Medizin ((HDBMOLEK,volume 6))

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Zusammenfassung

Charcot u. Marie in Paris beschrieben 1886 erstmals das Syndrom der „peronäalen Muskelatrophie“, das durch langsam progrediente, distal symmetrische, schlaffe Paresen zunächst der unteren Extremitäten bei nur geringen sensiblen Ausfällen gekennzeichnet war (Charcot u. Marie 1886). Die Beschwerden begannen meist im Kindesalter und traten familiär gehäuft auf. Zusätzlich wurden Faszikulationen, eine Neigung zu Muskelkrämpfen und vasomotorische Störungen beobachtet. Dasselbe Syndrom beschrieb wenige Monate später auch Tooth in London (Tooth 1886) als „peronäale, progressive Muskelatrophie“, die er als Erkrankung der peripheren Nerven auffaßte und in Kontrast zu den bekannten progressiven Muskelerkrankungen setzte. Déjérine u. Sottas (Déjérine u. Sottas 1893) berichteten dann 1893 von Zwillingen mit autosomal-rezessiv vererbter, hypertrophischer, progressiver Neuritis, bei denen bereits im frühen Kindesalter eine deutliche Verdickung der Nervenstämme vorlag, daneben auch Pupillenstörungen und weitere Zusatzsymptome, die als Ausdruck einer leichten zusätzlichen zerebellären Funktionsstörung aufgefaßt wurden.

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  1. Bernd W. Rautenstrauss
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  2. Holger Grehl
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Rautenstrauss, B.W., Grehl, H. (2000). Hereditäre motorische und sensible Neuropathien. In: Ganten, D., Ruckpaul, K. (eds) Monogen bedingte Erbkrankheiten 1. Handbuch der Molekularen Medizin, vol 6. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-57043-8_4

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