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The authors describe a 16-year-old patient suffering from facial scapulohumeral myopathy. The given case is regarded as sporadic. The disease was characterized by an early debut and rapid progression of neuromuscular disorders. Marked myasthenia and muscular atrophy of the face, shoulders, thighs, as well as contractures in the knee joints, hands and feet were noted. By 15 years the patient demonstrated a noticeable progress of motor disorders: she was unable to stand up from the chair, experienced difficulties in walking along the ward, and had a waddle gait. The given symptom-complex corresponds with the infantile variety of facial scapulohumeral myodystrophy.

Vitamin B12 deficiency is often attended by neuropsychic disorders. In the geriatric population, the level of vitamin B12 is mostly reduced. However, the clinical manifestations and pathogenesis are not completely specified. The authors describe a female patients in whom vitamin B12 deficiency was coupled with manifest neuropsychic disorders. Provide a detailed depiction of the clinical status, the disease course and laboratory findings. Relate the most typical neuropsychic manifestations of vitamin B12 deficiency.

The authors describe a case of a benign variety of progressive Duchenne type muscular dystrophy in a 8-year-old short-stature boy. Provide the electromyographic and electroneuromyographic data, measurements of the growth hormone in blood serum and osseous age. Make suggestions about coupled inheritance of progressive Duchenne type muscular dystrophy and short stature . The latter one is likely to be attended by a decrease of anabolic processes, which may determine a more benign course of the myodystrophic process.

Hypophyseal-testicular function was examined in 11 patients with Becker's progressive myodystrophy (PMD), in 9 with Erb-Roth's PMD and in 10 with Landouzy-Dejerine's PMD. The patients' age ranged from 21 to 45 years. Blood serum LH, FSH, prolactin, testosterone and estradiol were measured by RIA. A sexological study was carried out as well. All the patients' groups suffering from PMD were characterized by a significant rise of blood estradiol. Apart from hypoestrogenemia, some of the patients manifested hypotestosteronemia, hyper- and hypoprolactinemia, reduction of the LH level. It is assumed that the identified hormonal alterations, primarily hyperestrogenemia, may play an adaptation role under the conditions of the genetically determined myodystrophic process. On the other hand, however, the neuroendocrine alterations provoked sexual disorders in PMD patients. The patients often manifested arrest of sexual development, libido decrease, objective signs of demasculinization and feminization, subjective complaints of sexual dysfunction whatever the PMD pattern.

The paper summarizes experience gained for many years by the All-Union Research Methodological Center for Study of Hereditary Neuromuscular Diseases. The specialists of the Center render counselling and therapeutic assistance to patients afflicted with neuromuscular diseases. The counselling and diagnostic services are characterized by the fact that it is based on the activity of a large hospital intended for the treatment of various diseases. The problems which are being solved by the out- and inpatient services of the Center are considered in detail. The advantages of the setting up of the common in- and outpatient complex on the basis of the hospital intended for the treatment of various diseases are described.

A total of 70 patients with Duchenne progressive muscular dystrophy (DPMD) aged 3 to 20 were enrolled in this study. Peculiarities of the diagnosis and diagnostic errors were shown at different stages of medical follow-up of the patients. A half of the patients had pediatrists and orthopedists as their first doctors. Upon the initial investigation, DPMD was diagnosed in about 1/3 of the patients. Retarded motor and psycholingual development were the first signs of the disease in 72.9% and 37.1% of the cases, respectively. Bones and cartilages were also frequently changed. To improve the early DPMD diagnosis it is essential that pediatrists child surgeons and ortopedists be largely informed about the clinical features of the disease.

The authors describe a familial case of Kennedy's spinal amyotrophy. In three brothers of the R. family, the disease was marked by the appearance in the 4th-5th decade of life of myasthenia in the proximal parts of the limbs and of bulbar symptoms, which will run a slow-progressive course. Since the young age all the patients manifested gynecomastia. Besides, later one of the brothers developed scirrhus of the left mammary gland. Clinically, Kennedy's spinal amyotrophy in the R. family manifested itself by asymmetric distribution of myotrophies (more pronounced in the left limbs), bilateral Dupuytren's contractures in the hands. Apart from the signs of injuries to motoneurons of the anterior horns, electromyography and electroneuromyography have shown the peripheral nerves to be involved into the pathological process.

The authors describe two isolated cases of poorly studied late progressive recessive X-linked proximal spinal and bulbar amyotrophy characterized by a relatively benign course. The cases are analyzed in the light of modern literature data.

The authors describe a familial form of childhood spinal amyotrophy. Among 7 patients in the M. family, 5 were diagnosed to suffer from type II spinal amyotrophy and 2 from type III. It is of interest to mention that type II was observed only in boys whereas type III in girls. The data of the clinical and electromyographic examination of two M. siblings of male and female sexes have been analyzed. Possible mechanisms of the clinical polymorphism of childhood spinal amyotrophy are under discussion.

Therapeutic effect of sinestrol was investigated in 15 patients with progressive muscular dystrophy of Duchenne (PMDD) aged 7 to 10 years, at stage II of the disease. The drug was given orally 1 mg twice a day for 3 weeks. Control group consisted of 14 patients with PMDD aged 7 to 9 years. By the end of the course a several relief of motor constraint was noted in 10 patients with functional tests improved, tendon reflexes increased. The results of clinico-electromyographic investigation performed 6 months after the sinestrol withdrawal evidenced progressive course of the disease, though its rate was significantly lower in sinestrol-treated group. The treatment did not produce considerable changes in the baseline hormonal profile (gonadotropins, prolactin, sexual steroids).

The authors describe a combination of Duchenne muscular dystrophy and congenital ichthyosis in a 6.5-year-old boy. This is the first ever description appearing in the world literature. The authors discuss possible variants of mutation (either chromosomal aberration or two independent gene mutations in chromosome 21).

Clinical polymorphism of Becker's progressive muscular dystrophy and related sexual disorders were studied in 13 patients aged 19 to 39 years. Characteristic disturbances included inhibited or delayed pubertal development and manifestations of hyposexuality in mature age. Pubertal retardation was diagnosed in 2 patients who also displayed an earlier development of manifestations of the first symptoms of Becker's progressive myodystrophy associated with hyperestrogenemia and hypoprolactinemia.