The world medicine has achieved considerable advances over the last years in understanding of causes and pathogenesis as well as in specification of diagnostics criteria and studies of therapeutic approaches at chronic migraine (CM). Meantime this widespread disease is badly recognized by the physicians and diagnosed seldom. In addition, there is no generally accepted document, regulating the treatment of patients with CM, who are peculiar by their express deadaptation due to high frequency of severe attacks of the headache (HA), co-morbid psychic and somatic disorders, frequent abuse of analgetic drugs and low adherence to preventive therapy. The specialists of our country, like in other countries, gained their own unique expertise in management of such patients, who are hard to cure, including by botulinum A toxin – representative of the state-of-the-art generation of the registered drugs with the proven efficiency against CM. The article sets out the Recommendation from the Russian specialists as to management of the patients with CM, approved by the meeting of CM Expert Board (on November 12, 2014, Moscow), including with respect to time of treatment, rules of withdrawal and replacement of drugs and some other features, in compliance with modern world concepts on pathogenesis and treatment of such disease and expertise gained in managing patients
with CM in our country.

Objective of the study: assessment of clinical and electroneuromyographic (ENMG) parameters of distal symmetric polyneuropathy during pregnancy.

Materials and methods. 32 pregnant women with type I diabetes mellitus were examined. Signs of diabetic polyneuropathy (DPNP) were revealed in 87.5 percent (n = 28) of patients. Duration of diabetes in patients with DPNP varied from 1 to 30 years (in average, 11.0 ± 6.4 years). Subjective (NSS scale) and objective assessment (NDS scale) of neuropathy symptoms, as well as the nerve conduction studies of the peroneal, tibial, and sural nerves were performed twice, on the 15–16 and 32–33 weeks of pregnancy.

Results. Increase in subjective and objective symptoms of polyneuropathy along the pregnancy according to NSS and NDS scales (р < 0.05), as well as significant decrease of CMAP and SNAP amplitudes (р < 0.05) in the second half of pregnancy, indicating the progression of the DPNP. The most frequent pathological changes were observed in the peroneal and sural nerves.

Conclusions. Pregnancy has an adverse effect on the course of the DPNP contributing to the axonal damage of peripheral nerves, progression of neurological impairment and aggravation of subjective neuropathic symptoms.

The algorithm of differential diagnosis of the two most common genetic variants the limb-girdle muscular dystrophy (LGMD2A and DMD), developed on the basis of a comprehensive survey of 85 patients with a diagnosis specification using techniques of DNA analysis. It is shown that the accurate diagnosis of LGMD genetic types should be based on the results of the clinical and genealogical, biochemical and molecular genetic analysis. The proposed algorithm will significantly reduces the economic and time costs with expensive DNA testing.

A subset of patients (15 to 20%) with myasthenia gravis (MG) remains refractory to standard types of treatment. Analysis of efficiency of rituximab, a chimeric monoclonal antibody to surface antigen of B lymphocytes (CD20), in 16 patients suffering from refractory MG was performed. In all cases, the drug was injected weekly and intravenously in the dosage of 375 mg/m2, for 4 weeks. All patients were dependent on intake of corticosteroids and cyclosporin. During rituximab therapy, the gradation of MG has significantly changed, being transformed from severe forms (IV and V MGFA class) into moderate and mild forms (III, II, and I MGFA class). Improvement of the clinical state included cease of myasthenic exacerbation, increased respiratory muscle strength; significant reduction of dosages (and even canceling) of basic pathogenetic and symptomatic treatment. Complete remission with cancellation of basic therapy was recorded in 4 (25 %) of patients within 2-year period. However, 2 of them manifested with aggravation of MG after the first course of rituximab, in 9 and 24 months, correspondingly, which required resumption of corticosteroid therapy and repeating of courses of rituximab, with positive result. In 9 (56.25 %) cases, pharmacological remission was recorded; in 3 (18.75 %) cases, there was a significant improvement of initially severe forms. In all patients rituximab therapy lead to the clinical improvement: prior to completion of the course, after the 1st and the 2nd infusion - in 12 (75 %) patients; 1 to 3 weeks after completion of the course – in 4 (25 %) patients. Maximal improvement was registered in 1 to 12 month after completion of the course of rituximab intake (at the terms of 4. ± 2.0 months). There were the following stages of basic therapy cancellation: during first 1 to 3 months of rituximab treatment, pyridostigmine and cyclosporine were cancelled; corticosteroids were dropped off gradually, according to the clinical status of patients. Increased sensitivity to steroids, even in small dosages, was recorded. Infusion reactions were dose-related and most frequently occurred during first administration of rituximab and were eliminated with slowing down of the infusion rate. Infusion reactions and side effects were absent in the course of postinfusion period in 5 (31.25 %) and 8 (50 %) patients, correspondingly.

Pompe disease, also known as type II glycogenosis, is a rare autosomal recessive disease. Two main types include early-onset Pompe disease – severe, rapidly progressive multisystem deficency, manifestating on the first year of life, and late-onset Pompe disease (LOPD), with the age of onset ranging from the first year till late adulthood. Both types are caused by the deficiency of lysosomal acid-α-glucosidase due to the mutations in GAA gene, leading to an excessive storage of glycogen in body cells. LOPD is a slowly progressive disease with a primary lesion of a skeletal, respiratory and cardiac muscles, affected in different grade, and moderately elevated сreatine kinase. It is often difficult to perform differential diagnosis with a large group of hereditary and non-hereditary myopathies. We present a case report of LOPD with signs of limb-girdle muscular dystrophy.