[Dysphonia as the first sign of myasthenia gravis]. / Dysfonia pierwszym objawem miastenii.

Ten cases of myasthenia are presented in which dysphonia was the initial sign. Isolated signs of dysphonia continued for several months or years, presenting diagnostic difficulties. Eventually neurologic examination followed by electrophysiological investigation (classical repetitive nerve stimulation and single fibre EMG) as well as edrophonium test allowed proper diagnosis of myasthenia, then confirmed by the clinical course. A possible diagnosis of myasthenia should be taken into consideration in cases with isolated dysphonic signs of uncertain origin.

[Is there true remission in myasthenia gravis? Long-term clinical and electrophysiological studies]. / Czy istnieja prawdziwe remisje w miastenii? Wieloletnia katamneza kliniczna i elektrofizjologiczna.

Twenty myasthenic patients were followed up who had in the years 1981-1982 full clinical remission (no drugs, no symptoms), lasting at that time at least several years. However, in 19 of them neuromuscular transmission defects were then found by single fibre electromyography (SFEMG). We then concluded that true remissions did not exist in myasthenia (J. Neurol., 1985, 231, 331). Recently, we were able to evaluate those patients. One patient, who had full long lasting remission after thymomectomy, died at the age of 69 of myocardial infarction in the course of a myasthenic relapse. Another patient had a relapse, 20 years after thymoma extirpation. Two patients had recurrent fluctuating relapses of myasthenia. One patient, who had undergone thymectomy in his childhood, developed immune thrombocytopenic syndrome. SFEMG done in 12 patients showed abnormalities in 5 cases only (mean jitter elongation, increased percentage of potential pairs with blocking and jitter elongation more than 55 microseconds). In 7 remaining patients the catamnesis covering more than 14 years revealed full clinical and electrophysiological remission. Thus, repeated analysis of the group of myasthenic patients with remission has lead us to revise our former opinion that there are no true remissions, clinical and electrophysiological, in myasthenia. They certainly occur but in some patients normalization of the electrophysiological pattern appears only several years after they have become clinically asymptomatic.

[Diagnostic difficulties in a case of mitochondrial myopathy in a 51-year-old woman]. / Trudnosci diagnostyczne w przypadku miopatii mitochondrialnej u 51-letniej kobiety.

A case of mitochondrial myopathy in a 51-year-old woman is reported. External ophthalmoplegia, presence of persistent thymus and electrophysiologic investigation suggested myasthenia gravis. Electron microscopic examination of muscle biopsy showed changes typical of mitochondrial myopathy.

[Myasthenia preceded by dysphonia. Clinical and electrophysical study]. / Miastenia rozpoczynajaca sie od dysfonii. Badania kliniczne i elektrofizjologiczne.

The solely dysphonia symptom as atypical and relatively rare onset of myasthenia gravis is difficult to diagnose. We present 11 cases of myasthenia, where dysphonia was one and only one symptom of illness during several months to several years. The evidences of dysphonia were the fatigability and nasality of speech, as well as chronic hoarseness. The diagnosis of myasthenia was very difficult in this period and was often preceded by lengthy laryngological and neurological examination. In our paper we present the criteria proper for myasthenia diagnosis in which repetitive electrostimulation test and high-sensitive SFEMG method are used.

Human muscle acetylcholine receptor alpha-subunit gene (CHRNA1) association with autoimmune myasthenia gravis in black, mixed-ancestry and Caucasian subjects.

We have sought associations with the muscle acetylcholine receptor alpha-subunit gene (CHRNA1) in autoimmune myasthenia gravis (MG) patients from three ethnic groups; Caucasians and South Africans of Black and Mixed-Ancestry. We found a significant association with the HB*15 CA repeat allele in unrelated Black myasthenics (n = 18; RR = 2.85; pX2 = 0.04) compared with 52 ethnically matched controls. A family-based association study and linkage analysis in Caucasian simplex and multiplex families supported a positive association at this locus with the longer alleles, including HB*14 to *18. However, no significant cosegregation of the disease with the HB alleles could be demonstrated in affected sib pairs. Our results suggest that the CHRNA1 locus harbours a minor susceptibility gene for developing MG, though we cannot rule out linkage disequilibrium with another major gene locus on chromosome 2.

[Myasthenic crisis during pregnancy: case report and literature survey]. / Przelom miasteniczny w czasie ciazy: opis przypadku i przeglad pismiennictwa.

We report the successful use of high-dose intravenous immunoglobulins during pregnancy in a young woman with myasthenic crisis. To our knowledge, immunoglobulins in the management of myasthenic crisis during pregnancy have not been previously described. It is emphasized that both the patient and her fetus tolerated the treatment well.

Single-fibre electromyography (SFEMG) at different firing rates in myasthenia with and without thymoma.

The single fibre EMG differences during motor axonal stimulation at different firing rates were studied in myasthenic patients: 15 with, and 15 without thymoma. 10 healthy volunteers were also examined. Conventional repetitive stimulation EMG as well as SFEMG during weak voluntary contraction and on 10 and 20Hz stimulation was performed in every patient. The mean jitter in the control group was 30 microseconds on voluntary contraction and about 22 microseconds at 10 as well as at 20 Hz stimulation. In both groups of myasthenic patients under consideration SFEMG on voluntary contraction detected neuromuscular transmission disturbances of various degree. The results obtained at motor axonal stimulation (10 and 20 Hz) were unhomogeneous. In both groups jitter seemed to be slightly shorter at higher (20 HZ) frequency stimulation, probably due to facilitation but differences were insignificant.

Immunosuppressive treatment for juvenile myasthenia gravis.

The result of immunosuppressive treatment in 20 cases of generalized myasthenia gravis with onset before age 16 were analysed. The patients age at the beginning of immunosuppressive treatment ranged from 10 to 22 years. Thirteen patients suffered from a severe form of myasthenia gravis with respiratory attacks, the remaining 7 demonstrated a moderately severe form with bulbar symptoms dominating the clinical picture. Indication for immunosuppressive treatment was lack of or only slight improvement after thymectomy. Prednisone was used in 17 cases, high dosage of methylprednisolone in 8 (in one case twice), azathioprine in 11 and cyclophosphamide in 10. Best results were obtained with cyclophosphamide since significant improvement was recorded in 14/20 of patients. Corticosteroids, i.e. prednisone and high-dose methylprednisolone proved to be of limited value.

[Atypical clinical image of myopathy with abnormal mitochondria (MAM) in our cases]. / Nietypowy obraz kliniczny miopatii mitochondrialnej (MAM) na podstawie przypadków wlasnych.

Two peculiar cases of mitochondrial myopathy are presented. In the first case the diagnostic difficulties are discussed stressing especially the differentiation of the myopathy from myasthenia. In the second cases polyneuropathy signs were evident, which is extremely rare in this myopathy.

Surgical treatment for myasthenia gravis.

A new surgical technique for thymectomy is presented. Three hundred and seventeen patients with myasthenia gravis and 20 with thymomas who had myasthenic symptoms were operated on. The new surgical approach--a small transverse sternotomy--was used in 257 cases (in 240 patients with myasthenia gravis and 17 with thymomas) and conventional median sternotomy in 80. In myasthenic patients small transverse sternotomy enabled radical thymectomy to be performed with an uneventful postoperative course and very good cosmetic results. There were no hospital deaths among patients with myasthenia gravis after thymectomy. The long term results, assessed after 18-24 months, were good: the total remission rate was 39.5%, and there was a great improvement in 48.5% and an improvement in 9%. After thymectomy about 30% of patients received supplementary treatment with prednisone. A correlation between the duration of symptoms and the result of thymectomy was established: the shorter the duration of myasthenia gravis the better the results. In the small group of 20 patients with thymomas two died in hospital. In 12 patients with encapsulated thymic tumours the long term results were similar to those in patients with myasthenia gravis, whereas in patients with infiltrating thymic tumours the results were unsatisfactory.