Summary
1. Arthrogryposis multiplex congenita is a syndrome consisting of three groups of symptoms: Neuromuscular symptoms as primary elements; concomitant tegumental and articular symptoms, and unspecific elements in the form of dysmorphic features. Pathogenetically the syndrome of arthrogryposis is characterized by both a myogenic and neurogenic component, acting in opposite directions.
2. The affected gene is pleiomorphic, dominant and autosomal, displaying a high mutation index. It shows a high degree of penetrance and variable forms of its phenotypic manifestation.
3. These features once more prove the common genetic basis of inherited neuromuscular diseases.
Zusammenfassung
1. Die Arthrogryposis multiplex congenita ist ein Syndrom, welches drei Gruppen von Symptomen vereint: als primäre Elemente neuromuskuläre Symptome; tegumentäre und artikuläre Symptome als Begleiterscheinungen; dysmorphische Symptome als nicht spezifische Elemente. Pathogenetisch wird das arthrogrypotische Syndrom durch zwei entgegengesetzte Formen bestimmt: eine myogene und eine neurogene.
2. Das verantwortliche Gen hat einen pleomorphen Charakter, einen hohen Mutationsindex, wird dominant autosomal vererbt. Es zeigt eine große Penetranz und eine veränderliche Ausdrucksmöglichkeit.
3. Dieser Charakter beweist noch einmal die einheitliche genetische Basis der erblichen neuromuskulären Krankheiten.
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Vorliegende Arbeit wurde im „Centrul de Patologie muscularĂ“ (Zentrum für Muskelpathologie) Vîlcele-Braşov, Rumänien, verfaßt.
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Radu, H., Stenzel, K., Bene, M. et al. Das arthrogrypotische Syndrom. Deutsche Zeitschrift f. Nervenheilkunde 193, 118–140 (1968). https://doi.org/10.1007/BF00244149
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DOI: https://doi.org/10.1007/BF00244149