Charcot-Marie-Tooth-Erkrankungen

Zusammenfassung

Die Gruppe der hereditären Neuropathien (Charcot-Marie-Tooth-Erkrankungen, CMT) ist eine klinisch und genetisch heterogene Gruppe von peripheren Neuropathien. Die Prävalenz beträgt 1:2 500, womit die CMT zu den seltenen Erkrankungen zählen. In der klinischen Neurologie stellen sie die häufigste neurogenetische Erkrankung dar. Die CMTFormen mit sensiblen und motorischen Symptomen sind am häufigsten. Neben diesen Formen gibt es rein sensible Formen, mit oder ohne autonome Symptome (HSAN), rein motorische Neuropathien (dHMN) und die besondere Form der hereditären Neuropathie mit Neigung zu Druckparesen (HNPP). Die molekulargenetische Diagnostik wurde zunehmend weiterentwickelt. Die Gendiagnostik ist integraler Bestandteil der Diagnostik für Patienten mit dem klinischen Verdacht auf das Vorliegen einer hereditären Neuropathie. Die klinische und genetische Zuordnung ist durch die große Heterogenität des Phänotyps bei über 80 potenziell krankheitsverursachenden Genen oft sehr erschwert. Trotzdem werden über 90% aller genetisch gesicherten CMT durch Mutationen in vier Genen (PMP22, Cx32, MPZ und MFN2) geklärt. Diese stellen die klinisch relevanten Kandidatengene im klinischen Alltag dar.

Summary

Charcot-Marie-Tooth disease (acronym CMT) comprises a huge group of different forms of inherited neuropathies. CMT forms are clinically and genetically heterogeneous. The overall prevalence is about 1: 2500. Thus CMT belongs to the group of orphan diseases. However, in the field of clinical neurology they are the most common genetic disorder. The most frequent forms of CMT are hereditary sensory and motor neuropathies (HMSN). Besides these forms pure sensory forms exist, with or without autonomic symptoms (HSAN), or pure motor neuropathies (dMHN) as well as forms with temporary focal paresis as hereditary neuropathy with liability to pressure palsies (HNPP).

During the last decade, genetic testing has developed enormously and routine diagnostic workup advanced so that genetic testing for mutations in candidate genes should be a routine for the diagnosis of patients with suspicious hereditary neuropathy. Due to clinical and genetic heterogeneity the assignment of hereditary neuropathies is difficult. So far, more than 80 disease causing genes are known and more than 90% of all CMT forms are clarified by mutations in four genes (PMP22, Cx32, MPZ and MFN2).

Schlüsselwörter

CMT - HMSN - Genetik - Netzwerk

Keywords

CMT - HMSN - genetic - network

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