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One hundred forty-two patients (66 men and 76 women) from 20 autosomal-dominant pedigrees and 3 families including 5 "sporadic" cases were examined. A great similarity of clinical manifestations among those affected was noted. Clinical variability of phenotypes reflecting various phases of the disease and different expressions of the mutant gene were always within the limits of the identical final phenotype of the disease, namely the facio-scapulo-humero-peroneal-femoro (posterior group of the muscles)-gluteal (gluteus maximus). Thus, the clinically and genetically homogeneous group of patients with autosomal-dominant descending with a "jump" form of facioscapulohumeral dystrophy (FSHD), called facioscapuloperoneal dystrophy (FSPD), was examined. Among the observed cases we did not come across any having the autosomal-dominant gradually descending form of FSHD, called facioscapulolimb dystrophy (FSLD), in which the pelvic and proximal lower limb muscles get weak earlier than in the peroneal group (anterior tibial) muscles. We could not reveal the "pure" facioscapulohumeral phenotype of muscle weakness in 142 examined patients. A "pure" FSHD does not exist as a nosological entity. It represents only the syndrome which characterizes the initial phase of FSLD, but not of the FSPD. It is quite probable that FSPD and FSLD which may be differentiated clinically are two different diseases connected with the mutation of allelic or even different genes. Linkage studies in FSPD and FSLD mapping genes would confirm this data.

We carried out an analysis of 5 sporadic cases of lower motor neuron disease with predominant affection of the proximal parts of arms in 2 patients and distal parts in 3 patients. From clinical point of view, our own observations, along with similar cases reported in the literature with predominantly affected upper limbs, different progression of the disease and denervation changes during needle EMG, can argue for clinical heterogeneity of lower motor neuron disease. There were some difficulties in establishment of a differential diagnosis between atypical variants of amyotrophic lateral sclerosis ("flail arm" syndrome) and primary muscular atrophy of adults at the early stages of the disease. We suppose that atypical variants of amyotrophic lateral sclerosis resultant from affection of lower motor neuron only ("flail arm" syndrome and distal amyotrophy), could be distinguished from amyotrophic lateral sclerosis and considered as an independent entity.

Studied with the aid of the computerized tensiometer MPT2-Lauda (Germany) was dynamic surface tension (ST) of blood serum in patients with chronic hepatitis (ChH), hepatic cirrhosis (HC), and in essentially healthy people, with n = 44, 32, and 68 respectively. ChH was shown to be accompanied by a significant increase in ST indices in the region of short (t = 0.01 sec) times of the surface life as well as by a decrease in that of medium (t = 1 sec) and long (t--infinity) times. Rise in parameters of interphase tensiograms is a prognosis-negative sign with respect to the development of HC. Correlations have been established of indices of blood ST to its content of protein, lipid, and inorganic substances and to morphological signs of affection of the liver as well.

In patients and test animals similar changes in innervation have been revealed. Degeneration of some preterminal axons has been shown. The most manifested feature's increased ramification of distal axons. No signs of real reinnervation have been found. New collateral branches of preterminal, terminal and ++ultra-terminal axons usually have their ends at the same muscle fiber in the form of additional nervous terminals. Decreased average diameter of motor end-plates, revealed in the test animals, depends not on their degeneration, but on formation of new small motor end plates as a result of immature axonal ramification of distal axons. Acetylcholinesterase activity in the end-plates is decreased. A suggestion is made that excess of thyroid hormones in the skeletal muscle disturbs both the system of cyclic nucleotides and mechanisms of muscular contraction, connected with it and axoplasmic transport, respectively. The changes of the terminal intramuscular innervation revealed, structures of the motor end-plates with a decrease of acetylcholinesterase activity are supposed to result from disturbances of neurotrophic regulation of the muscle fibers because of the disturbances of the axoplasmic current as the excess of thyroid hormones.

To differentiate between thyrotoxic myopathy and myodystrophy (of the limb-girdle type), severe myasthenia, polymyositis, Addison's disease, proximal spinal muscular atrophy, steroid myopathy and neurosis special diagnostic indices have been developed based on specific muscular weakness (and atrophy) pattern early in the disease, the sequence of separate muscles involvement as the pathological process progresses, disproportion between muscular weakness and atrophy, excessive folds of the skin above the affected muscles and the presence of deep reflexes, purposeful analysis of the anamnesis. The diagnosis is confirmed by thyroid function study and/or myopathy regression in response to antithyroid therapy.

Two cases of chronic spinal muscular atrophy simulating the clinical picture of the facioscapulohumeral type and limb-girdle type of muscular dystrophy are reported. Both patients had a waddling gait, Gowers' maneuver in arising, terminal atrophies and pseudohypertrophies of some muscles, marked fasciculations, and fascicular tremor. The electromyogram revealed signs of anterior horn cell disease. Calf muscle biopsy (case 2) revealed 'myopathic' changes.

Results of the clinico-roentgenological observation of butterfly-like deformity of the middle dorsal vertebra body (a rare congenital anomaly) are presented. In the presence of an infection the patient developed a spinal pathology (lower central paraparesis, parahypesthesia, disturbances of the functions of pelvic organs). The neurological symptoms were found to be due to an adhesive process in the spinal meninges at the level of the deformed vertebra and the secondary compression-ischemic myelopathy. The treatment consisted in injecting prednisolone under the spinal meninges. The patient's roentgenograms were compared with a macerated museum preparation of dorsal vertebrae.

Additional study of six generations belonging to the K. kindred, which were previously investigated by Oransky in 1927 was carried out. 18 members of this kindred were studied. At the early stages of the disease a sharp dissimilarity of the phenotypes in the K. kindred resulting from the different rate of the development and intensity in the course of the disease was observed, varying from evident scapuloperoneal amyotrophy to the cases resembling Landouzy-Déjerine muscular dystrophy. At the late stages of the disease a considerable clinical simularity of those affected was noted. The clinical and genetic data allowed at the present time to consider the muscular dystrophy in the K. kindred as one of the varieties (namely, as a descending type with a "jump") of the facio-scapulo-limb (or facioscapulohumeral) muscular dystrophy. The scapuloperoneal syndrome could be a long stage in the development of the disorder in some members of the K. kindred.

A report is presented of a patient with lesions of muscles of the face, shoulder girdle, wrists and shins. The clinical findings were similar to those noted in a patient with facioscapuloperoneal muscular dystrophy. An analysis of statistical and dynamic formulas of muscular lesions with regard to electromyographic findings made it possible to determine the neurogenic nature of the damage. It is shown that under clinical conditions, using the formula of muscular lesions, one may differentiate between facioscapuloperoneal muscular atrophy and facioscapuloperoneal myodystrophy and Stark-Keser's spinal scapuloperoneal atrophy. It is proposed that the term neurogenic "scapulotibial syndrome" should be used instead of "scapuloperoneal" one.

The paper deals with a description of the clinical picture and diagnosis of the main types of myodystrophies taking into account formes of muscular damages and a trend of generalization of a pathological process at the early phase of the disease. The clinical picture of endocrine myopathies was also studied. The authors revealed almost the same formula of muscular damages. Muscles of the pelvic girdle and femurs mainly suffered and to a lesser degree--muscles of the shoulder girdle and shoulders. According to the data of the clinical picture, histopathology and electromyography endocrinic myopathies are phenocopies of hereditary myodystrophies.

The authors studied 42 patients with endocrine myopathy. In thyrotoxic myopathy prevalent muscle lesions of the pelvic girdle and femur were found. EMG studies (with the aid of point electrodes), histological and histochemical studies of the muscles in patients with thyrotoxicosis indicate a primary muscular character of the atrophies. The report contains descriptions of pathomorphological and histochemical changes in the muscles in experimental thyrotoxic myopathy.

In patients with thyrotoxic myopathy, histological investigation showed the decrease in mean diameter of skeletal muscles, and increased collateral branching of distal axons. The percentage of afflicted fibers was not high with focal pathology. The signs of true reinnervation were absent. Electroneuromyographic investigation confirmed mild myopathy. The authors discuss the possible participation of cyclic nucleotide system disorders in muscular weakness in these patients.

A series of 263 patients with thyrotoxic myopathy (TM) (47 males and 216 females) were studied. A total of 151 patients were investigated by the author and 112 case reports were taken from the literature. New clinical peculiarities of TM were detected. The author presented a quantitative assessment of the incidence, degree of weakness and atrophy of individual muscles, described the topography of muscular lesions at different phases of the development of thyrotoxicosis and myopathy. He also proposed an original formula of muscular weakness and atrophy which makes it possible to identify myopathy in its initial stage even when there are no evident clinical manifestations of thyrotoxicosis. Thus, a new method of early diagnosis of TM on the basis of topography of muscular lesions and other clinical characteristics is proposed. This method provides reliable evidence for the preliminary diagnosis of thyrotoxicosis. In addition to thyrotoxicosis correction the question is raised about the pathogenetic treatment of TM.

The authors have given a critical review of existing classifications of myodystrophies from 1884 till 1973. They propose a new systematization based on the formula of muscular lesions during different phases of the disease and on the formula of a generalization of the myodystrophical process. It is assumed that the formula of muscular atrophies and the direction of the generalization of the myodystrophical process is genetically conditioned and should be considered as an important sign of hereditary neuro-muscular diseases. The authors believe that the facio-scapulo-limb type of myodystrophy both clinically and genetically is not homogenous. This form of dystrophy should be divided into 2 variants: a gradually descending one and a descending one with a "jumping" of muscular atrophies from the upper half of the body (face, shoulder) to the peroneal group of muscles on the skin.

Additional study was carried out of six generations belonging to the K. kindred, which were previously investigated by Oransky (1927). Eighteen members of this kindred were studied. In the early stages of the disease a sharp dissimilarity was observed in the pheno-types in the K. kindred, resulting from different rates of development and varying intensity in the course of the disease, so that it ranges from evident scapulo-peroneal amyotrophy to cases resembling Landouzy-Dejerine muscular dystrophy. In the later stages of the disease the clinical data on those affected were noted to be very similar. Muscular dystrophy in the K. kindred has been inherited as an autosomal-dominant type for five generations. The penetrance of the gene is almost complete. The expressivity of the gene varies from abortive to severe forms of the disease. From the clinical and genetic data available at the present time, is seems that the muscular dystrophy in the K. kindred is one of the varieties (namely, a descending type with a “jump”) of the facio-scapulo-limb (or facioscapulohumeral) muscular dystrophy. The scapulo-peroneal syndrome could be a long stage in the development of the disorder in some members of the K. kindred. As well as muscular dystrophy, some muscle anomalies have been independently inherited in the K. kindred. Apparently, muscular dystrophy and muscle defects are caused by the non-allele genes; this ensures the independent distribution of these signs among the members of the K. kindred.