Erbliche motorische und sensorische Neuropathie - Typ LOM (HMSN-L) - Elektrophysiologische Charakteristika

Zusammenfassung

Untersuchungen zu den elektrophysiologischen Charakteristika bei einer größeren Familie mit erblicher motorischer und sensorischer Neuropathie - Typ LOM (HMSN-L) mit 27 betroffenen Mitgliedern wurden durchgeführt. Typischerweise tritt bei dieser Erkrankung klinisch eine Gehbehinderung infolge einer fortschreitenden Schwäche der unteren Extremitäten während der frühen Kindheit auf. Später entwickelt sich auch eine Schwäche im Bereich der oberen Extremitäten. Bei annähernd 30 % der Patienten entwickeln sich im Verlauf der zweiten oder dritten Lebensdekade Zeichen einer bulbären Beteiligung sowie eine erhebliche Hörminderung bis hin zur Ertaubung. Die motorische Nervenleitgeschwindigkeit war bei den untersuchten Patienten erheblich verlangsamt, insbesondere am N. musculocutaneus, N. axillaris, N. hypoglossus und N. fazialis. Sensorische Nervenaktionspotenziale waren häufig nicht messbar. Im Verlauf der Kindheit zeigte sich in Verlaufsuntersuchungen eine zunehmende Progression der Leitungsverzögerungen. Bei allen betroffenen Patienten waren regelmäßig multiple A-Wellen nachweisbar. Der Blinkreflex zeigte charakteristische pathologische Antwortpotenziale mit drei Komponenten und verlängerter Latenz. Die HMSN-L kann als demyelinisierende Neuropathie mit schwerem und frühem axonalem Schaden charakterisiert werden. Während der Kindheit zeigte sich ein Fortschreiten der ebenfalls verlangsamten Nervenleitgeschwindigkeiten im Unterschied zum mehr statischen Bild bei der hereditären motorischen und sensorischen Neuropathie Typ I (HMSN-I).

Abstract

We measured electrophysiological characteristics in a large family, 27 members of which suffered from hereditary motor and sensory neuropathy of the LOM type (HMSN-L). Typically, in this disease there is in early childhood a clinical aspect of limited walking ability due to progessive weakening of the legs. Later there is also weakness in the arms. In about 30 % of the patients signs of bulbar involvement occurred during the third decade of life, as well as considerable hardness of hearing leading to total deafness. Motor nerve conduction speed was considerably reduced in the investigated patients and facial nerves. Often it was no longer possible to measure sensory nerve action potentials. In the course of childhood nerve conduction velocity declined progressively. Multiple A waves were regularly seen in all the involved response potentials with three components and prolonged latency. HMSN-L can be characterised as a demyelinising neuropathy associated with early and severe axonal damage. During childhood there was a progressive decrease in the already slowed-down nerve conduction velocity in contrast with the more static pattern of Type I of hereditary sensory neuropathy (HMSN-I).

Key words

HMSN-L - A waves - blink reflex

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