Hereditary transthyretin amyloidosis is described in this review, including the TTR gene structure and mutation spectrum, the transthyretin protein structure and functions, the main clinical manifestations of transthyretin amyloidosis. Also the problems of differential diagnosis are discussed, the history of the spread of the disease among various ethnic groups is examined, information is provided on the current possibilities of pathogenetic and etiological treatment of the disease.

Pompe disease is classified in two main forms: the infantile onset Pompe disease, manifested before the age of 12 months and late onset Pompe disease with a debut at any age after 1 year of life. The late onset Pompe disease is characterized by hyper creatine kinase level, limb-girdle and axial muscle weakness, usually complicated by respiratory muscles degeneration. Diagnostic delay is still common in most countries, and physician should be wary to of delaying the correct diagnosis. Difficulties in diagnosing late onset Pompe disease are associated with broad and continuous clinical spectrum of nonspecific signs and symptoms often not distinguishable from those in other neuromuscular disorders. The main muscular manifestations and clinical tests of late onset Pompe disease are considered, and extra-muscular changes are discussed that allow one to suspect type II glycogenosis.

Background. Carpal tunnel syndrome is the most common tunnel neuropathy in which the median nerve is compressed at the level of the wrist in the carpal canal. Treatment of carpal tunnel syndrome can be conservative and surgical. Surgical treatment is indicated in case of ineffective conservative treatment. However, the strategy of managing patients with carpal tunnel syndrome in the postoperative period has not yet been determined; there is no clear understanding of the effectiveness and necessity of rehabilitation in the early and long-term postoperative periods.

Aim. Follow-up the patients after decompression of the median nerve in the late (up to 3 weeks after surgery) and long-term (3 weeks after surgery) postoperative periods to assess the effectiveness of different methods of rehabilitation.

Materials and methods. A randomized controlled study included 108 cases of idiopathic carpal tunnel syndrome (unilateral and bilateral). After surgery, the patients were divided into three groups: the restorative treatment group using magnetic therapy, the kinesiotherapy group, and the control group. Clinical, neurophysiological and ultrasound monitoring was carried out for six months.

Results. Patients of all the groups showed similar improvement in the most of the analyzed parameters, without any significant difference.

Conclusion. Thus, according to the results of a comprehensive study, it is evident that early diagnosis of carpal tunnel syndrome and a high-quality surgical decompression of the median nerve with a complete dissection of the flexor retinaculum of the hand guarantee improvement within six months or later after surgical treatment without additional rehabilitation measures.

Improving the function of the upper limb in cerebral palsy is one of the main tasks of rehabilitation treatment and socialization of the patient.

The purpose of the study was to evaluate the effectiveness of the “Exo hand-2” complex with the non-invasive interface “brain-computer” for correcting the motor function of the upper limb in cerebral palsy.

The study involved 50 male and female with cerebral palsy (main group n = 30, control group n = 20) aged 12–18 years old. The level of motor activity according to the criteria of classification of large motor functions (GMFCS) was not more than III. All patients received a standard course of spa rehabilitation for 21 days. Patients of the main group were additionally rehabilitated using the “Exo hand-2” complex with the non-invasive interface “brain-computer”. As a result of treatment in the main group, spasticity in the paretic hand on the Modified Ashworth Scale decreased from 3 (2; 3) to 2 (1; 2) points (p <0.002); according to Tardieu, spasticity decreased from the level of 3 (2; 3) to 2 (1; 2) (p <0.002). Half of the patients had paretic arm muscle strength in the Medical Research Counsil Weakness Scale sums core from 2.3 (2; 3) to 3 (2; 3) points after treatment (p = 0.002); assessment of household skills on the Modified Franchay Scale showed an improvement from 37 (22.75; 63.75) to 45 (30; 72.75) points after therapy.

A clinical description of a 28-year-old man with spinal and bulbar muscular atrophy diagnosed on the basis of the CAG-trinucleotide expansion in the gene coding androgen receptor is presented. He exhibited skeletal muscles and tongue fasciculations, gynecomastia, increased serum testosterone and creatine kinase levels. The peculiarities of the case were the gynecomastia under the age of 7, development of fasciculations at the age of 11 and appearance of hard muscle stiffness with delayed muscle relaxation after voluntary contraction at the age of 15, which resembled typical myotonia. Electromyography showed few signs of mild without myotonic discharge, contrasting with giant motor unit potentials and reduced recruitment. The cause of myotonia-like symptom without myotonic discharge as a feature of skeletal muscles disorder is discussed with the modern view of spinal and bulbar muscular atrophy as a multisystem genetic pathology.

The administration of licorice root or licorice preparations (lat. – Glycyrrhiza glabra) is one of the rare causes of hypokalemia. The main active component of licorice is glycyrrhizic acid has mineralocorticoid-like effects. Hypokalemia caused by long-term use of glycyrrhizic acid drugs leads to the development of pseudohyperaldosteronism syndrome including arterial hypertension, metabolic alkalosis and muscle weakness. In this publication we present the clinical case of severe hypokalemia due to use of the drug “Phosphogliv”, containing the trisodium salt of glycyrrhizic acid as one of the active substances. The specific feature of the case given is that the complication was caused using the therapeutic dosage of the drug.

Tremor is the most common type of movement disorders. In practice this differential diagnosis of hyperkinesis is diagnosed clinically and the use of additional methods of objective assessment of tremor increases the accuracy of diagnosis. The use of paraclinical methods of objective assessment of tremor improves the accuracy of diagnosis. Comparison of the neurophysiological parameters of tremor with clinical characteristics has a high diagnostic value, which justifies its use in the routine practice of neurologists. The purpose of the review is to analysis basic electrophysiological characteristics of pathological tremor, as well as the presentation of the material of its own observation.