Congenital muscular dystrophies (CMD) are a large group of genetically determined muscular diseases, initially defined by an early onset before the age of walking and dystrophic changes on myopathologic analyses. Currently, their definition is less restrictive with, a clinical continuum with limb-girdle muscular dystrophies, and closer histomorphological aspects with congenital myopathies. We distinguish 9 different forms of DMC, classified in 6 different groups depending on the location and/or function of the protein involved, on the control of 26 different genes. Ullrich's disease, UCMD (collagenopathy involving three different genes: COL6A1, COL6A2, COL6A3); secondary dystroglycanopathies (by abnormal glycosylation of alpha-dystroglycan involving 16 different genes); and DMC merosin negative, MDC1A, (merosinopathy secondary to mutations in a unique gene, LAMA2); represent the three most common forms. Rigid spine syndrome type 1, RSMD1 (selenopathy secondary to SEPN1 gene mutation) and L-CMD (laminopathy involving LMNA gene) are also part of the most current forms. Clinical features, plasmatic creatine kinase elevation or not, the presence or absence of clinical signs of central nervous system involvement, allow a first level of diagnostic pathway. According to these elements, muscle and/or cerebral MRI, muscle and/or skin biopsy will be discussed to guide the molecular investigations that will allow accurate diagnosis.

In the lecture shot history of research of etiology and pathogenesis of more dramatic complication of general anaesthesia – malignant hyperthermia - are presented. Importance of the interdisciplinary approach to working out of methods of preventive maintenance and treatment of it pharmacogenetics conditions in practice of the anaesthesiologist is underlined.

Amyotrophic lateral sclerosis (ALS) is the most common form of motor neuron disease. This pathology is characterized by the involvement of central and peripheral motor neurons in the pathological process. One  f the specific symptoms of ALS is fasciculations - involuntary muscle contractions that may occasionally precede the development of muscle weakness and atrophies. This paper summarizes the accumulated practical experience in using muscle ultrasound study in the diagnosis of fasciculations and their prevalence as an early sign of anterior corneal lesion in ALS.

The medical records of 186 patients diagnosed with Guillain-Barré syndrome (GBS) who had been followed up at the Research Center of Neurology, Russian Academy of Medical Sciences, in 2000 to 2011 were retrospectively analyzed. Most (65 %) of the patients had severe GBS; 19 % of the patients were on mechanical ventilation (MV) for an average of 21 (13; 48) days. The forms of GBS, such as acute inflammatory demyelinating polyneuropathy (AIDP) (n = 141; 78 %), and axonal variants, such as acute motor axonal neuropathy (AMAN), acute sensorimotor axonal neuropathy (AMSAN), i. e. AMAN / AMSAN (n = 39; 22 %), were studied separately. There was a significant difference in the seasonal revalence (p < 0.05). AIDP was encountered evenly throughout the year; AMAN / AMSAN occurred in 46 % of cases in summer. AIDP was followed by acute respiratory viral infection in 35 % of cases; diarrhea was
by the axonal forms in 36 % (p < 0.05). The axonal forms ran a severer course than AIDP: MV was performed twice more frequently (33 and 15 %, respectively); its duration was 6‑fold longer: 90 (46; 102) and 15 (10; 21) days (p < 0.05). AMAN / AMSAN was characterized by a severer neurological status and disability in the acute period, as shown by the NIS, MRCss, INCAT, R-ODS, and Barthel scales; these patients showed a poorer response to pathogenetic therapy (p < 0.05): 59 % with an insufficient effect; 15 % of those with AIDP. After six years, the majority (84 %) of the patients with AIDP walked alone and only 16 % were assisted. In the same period, less than half of the patients (40 %) with AMAN / AMSAN walked alone and a third (29 %) could move with assistance and almost the same percentage (31 %) could not walk.
Thus, a number of specific features of GBS were found in a Russian population (equal age and sex distribution; a larger percentage of the axonal forms than in European countries and the United States); however, the most characteristics did not differ from the global data.

Lumbago is one of the most common musculoskeletal pain syndromes. The course of lumbago shows a tendency towards frequent relapses and is associated with the significant material costs of medical care. A wide range of analgesics, nonsteroidal anti-inflammatory drugs in particular, whose administration may be linked with an increased risk for adverse visceral reactions, is used to treat patient with lumbago. The risk of their side effects may be reduced by the extensive use of non-drug treatments and the early expansion of a motor regimen in a patient. Therapeutic effectiveness in reducing the likelihood of adverse reactions may be provided by short-term treatment with effective drugs. The advantages of using ketoprofen (ketonal) formulations in patients with lumbago are considered.

The article presents a rare case of a child with a laboratory confirmed combination of several inherited diseases: cystic fibrosis (mutations F508del and E92K) and facioscapulohumeral progressive muscular dystrophy (FSHD). Through the example of the case authors describe the clinical findings of the infantile form of FSHD and the results of prolonged patient’s follow-up. Own clinical data are compared to the literature review. There is also a discussion about genetic heterogeneity of FSHD and complex rehabilitation approaches in case of associated genetic pathology.

Late-onset Pompe-disease (LOPD) is an adult form of the glycogenosis type II. The age of onset ranges from 1 till 75 y.o. and older. The diagnosis of LOPD is based on the presence of trunk and limb-girdle muscle weakness with hyperlordosis, respiratory failure, ocasionally accompanied by cardiomyopathy, persistent mild elevation of creatine kinase, dry blood spot test of the enzyme activity and DNA-analysis of GAA-gene. Early recognition of the LOPD and beginning of the enzyme replacement therapy is important in preventing severe motor and respiratory deficit, the patient disability and in increasing the survival in those patients.