Abstract
Repetitive stimulation of the ulnar nerve at 5 Hz was performed in 9 patients with congenital myotonia, 3 with dominant and 6 with recessive transmission. At this frequency the motor response differed markedly, all the patients with the recessive form presenting a clear decremental response to repeated stimulation. The size and time course of the decrease seem to be related to the degree of muscular paresis. The series includes one case of dominant congenital myotonia type II, whose response to repetitive stimulation, reported for the first time, did not differ from that of the other cases with the classic Thomsen form. Electromyography would thus seem to be a sure means of differentiating recessive from dominant forms of congenital myotonia in sporadic cases.
Sommario
Sono stati studiati 9 pazienti affetti da miotonia congenita, tre con forma dominante e 6 con forma recessiva, mediante stimolazione ripetitiva a 5 Hz del nervo ulnare. A tale frequenza di stimolo il comportamento della risposta motoria appare differenziarsi nettamente tra le due forme.
Tutti i pazienti con forma recessiva, contrariamente alle forme dominanti, mostrano un netto decremento alla stimolazione ripetitiva. L'entità ed il decorso di tale decremento appaiono quantitativamente legati alla paresi muscolare.
Nella serie è compreso un caso con miotonia congenita dominante di tipo II [4], il cut comportamento alla stimolazione ripetitiva non differisce rispetto agli altri casi con forma classica di Thomsen. Tale metodica elettrofisiologica pertanto sembra un sicuro mezzo per la diagnosi differenziale nei casi sporadici tra forme recessive e dominanti di miotonia congenita.
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Rossi, B., Rossi, A. & Sartucci, F. Repetitive nerve stimulation in the differential diagnosis of congenital myotonia. Ital J Neuro Sci 5, 385–390 (1984). https://doi.org/10.1007/BF02042621
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DOI: https://doi.org/10.1007/BF02042621