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Neuromuscular Diseases

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No 3 (2012)
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https://doi.org/10.17650/2222-8721-2012-0-3

LECTURES AND REVIEWS

8-19 1231
Abstract

Restless leg syndrome (RLS) is a chronic sensory‑motor disorder characterized by sensory discomfort in legs, appearing or worsening during rest in the evening or night time, evoking the urge to move. Despite its wide prevalence (around 5−10% in the population) and essential influence on the quality of life, not all the physicians, specialists of the primary care and even neurologists are common with this disorder. Because of that RLS stays commonly unrecognized.

ORIGINAL REPORTS

33-44 2595
Abstract

The protocols for electromyography (EMG) examination from the acute period of the disease (within the first 2 weeks after its onset) were retrospectively analyzed and residual neurological symptoms were evaluated in 50 patients who had sustained the Guillain-Barré syndrome 3 months to 15 years before. The EMG results of n. n. medianus, ulnaris, peroneus, and tibialis examinations were compared with the factors of a poor acute period and recovery. The distal latencies of M-responses (dM-responses) and motor conduction velocities were found to be of no prognostic value. ROC analysis revealed the dM-response amplitude decrement thresholds that were significantly associated with the development of severe form of the disease, an increase in the periods of plateau > 2 weeks and recovery capability to walk with the support of more than for > 1 month, an insuffient effect to pathogenetic therapy, and preserved noticeable residual motor deficit in the late disease period requiring help from other people in some instances. EMG was shown to be an informative study that can predict the course of the acute period and outcome in patients with the Guillain-Barré syndrome.

45-54 1539
Abstract

The patient with polymyositis and antisynthetase syndrome treated with rituximab (Mabtera) is described. Rituximab was added to the
high‑dose cyclophosphamide therapy due to an acute onset of the disease with a highly progressive interstitial lung disease and inability of the high‑dose corticosteroids therapy because of comorbidity. There was almost complete normalization of pulmonary and muscular pathological changes with more than 4‑fold decrease of anti‑Jo‑1 antibodies on the treatment. No complications and no side effects during rituximab therapy were noted. This case report demonstrates the positive effect of rituximab in combination with high‑dose cyclophosphamide in the treatment of acute AS syndrome. The results published in literature are discussed.

55-66 1216
Abstract

Hereditary myotonic syndromes (HMS) are a group of genetically heterogeneous diseases of the chlorine and sodium ion channels (channelopathies) with evident clinical polymorphism and high prevalence in the population. The differential diagnosis of early‑stage NMS poses a challenge to clinicians to this day. The investigation has attempted to elaborate informative differentiating criteria on the basis of a clinical and electromyographic study of 2 groups of patients with hereditary Thomsen or Becker myotonia (n = 45) and myotonic dystrophy type 1 (n = 39) verified by DNA analysis of the CLCN1 and DMPK genes. Along with the clinical symptoms, there may be the value of M‑response amplitude decrement in rhythmic stimulation of the n. ulnaris and the duration of myotonic discharges at pin electromyography of the m. tibialis anterior.

CLINICAL DISCUSSION

CONFERENCES, SYMPOSIUMS, MEETINGS



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ISSN 2222-8721 (Print)
ISSN 2413-0443 (Online)