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Genetic analysis of the adult muscle sodium channel alpha-subunit, SCN4A gene on chromosome 17q, was performed by means of PCR technique in a Swedish family with paramyotonia congenita (Eulenburg) (PMC). The mutation was found in four family members and consisted of a C to T transition affecting the fourth domain of the sodium channel protein. This mutation has earlier been described in other families with paramyotonia congenita. All family members carrying the mutation had cold-induced paradoxical myotonia, myotonic bursts on EMG, and a type IIB atrophy on muscle biopsy. Three of them had slight CK elevation and two had episodes of paralysis. On the basis of clinical findings in this family, persistent proximal muscle weakness, myopathic EMG abnormalities, a type IIB atrophy on muscle biopsy and no symptoms but other signs of muscle affection, were earlier suggested as clinical features of PMC. However, genetic analysis revealed that family members with these symptoms and findings did not have the mutation, indicating that these features are not due to PMC.

A Swedish family with Paramyotonia congenita (Eulenburg) (PMC) is presented. Clinical neurological examination, neurophysiological examination (n = 5) and muscle biopsy (n = 4) were performed. Different clinical features were found in various combinations in the individual family members. The clinical symptoms were: (1) cold-induced myotonia, (2) attacks of weakness, (3) persistent weakness and (4) no symptoms but other signs of muscle affection. In the patients with myotonia, the neurophysiological examination showed spontaneous myotonic discharges which were frequent at room temperature but disappeared after cooling. Furthermore, the amplitude of M. abductor digiti minimi compound action potential, during supramaximal ulnar nerve stimulation, decreased significantly after cooling. In the patients with persistent weakness there were no spontaneous myotonic discharges, but myopathic abnormalities were found in proximal muscle. In the patients with myotonia as well as in the patients with manifest muscle weakness, muscle biopsy showed a variation of muscle fibre diameters, centrally located nuclei, occasional atrophic fibers and an atrophy of type IIB muscle fibres. These findings are unspecific but have been described in PMC patients in earlier studies. An ancestor to the family, who had myotonia, lived in the same town and at the same time as Albert Eulenburg, which may suggest that this family is a part of the originally described family (1).