Gutartige distale Muskelatrophie Typ Hirayama

 

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Zusammenfassung

Die gutartige juvenile distale Muskelatrophie ist selten. Klinische Kennzeichen sind sporadisches Auftreten ganz vorwiegend bei jungen Männern im Alter zwischen 15 und 25 Jahren, schleichender Beginn und langsame Progression über 1–5 Jahre, gewöhnlich einseitige Ausprägung am Arm (> 95 %), Atrophie und nachfolgende Schwäche der Muskeln anhand und Unterarm mit distaler flaschenhalsförmiger Verjüngung des Unterarms sowie Kälteparese der betroffenen Muskeln (80 %). Elektrophysiologisch wie histologisch findet sich ein chronisch-neurogener Umbau der Muskulatur, neuropathologisch ein Verlust von Vorderhornzellen. Die Existenz dieses Syndroms mit guter Prognose ist etabliert. Letztlich aber ist es als Krankheitsentität noch nicht klar definiert. Der Versuch einer genetischen Zuordnung überzeugt bisher nicht. Die Symptomvariabilität wird diskutiert. In Einzelfällen sind familiäres Vorkommen und Betroffensein der unteren Extremität beschrieben.

Abstract

Benign distal myatrophy type Hirayama is a rare disease. Clinical characteristics are sporadic manifestation in young males between 15 and 25 years of age, insiduous begin and slow progression over 1 to 5 years, usually unilateral expression (95 %), atrophy and weakness of hand and arm muscles forming a bottle neck-shaped distal lower arm, and cold paresis of the involved muscles (80 %). EMG and muscle biopsy show chronic neurogenic changes of the muscles and neuropathology a loss of anterior horn cells. The existence of the syndrome is established worldwide. However, the disease entity is still under discussion. A definite genetic abnormality has not been discovered so far. The variability of symptoms and signs is also controversial. Single reports describe familial occurrence and localisation at the legs.

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Prof. Dr. med. Hanns C. Hopf

Universitätsmedizin
Klinik für Neurologie
Johannes Gutenberg-Universität

Langenbeckstr. 1

55131 Mainz

Email: hanns_christian.hopf@unimedizin-mainz.de