[Absence of radiation-induced adaptive response in lymphocytes of patients with Down's syndrome].

The adaptive syndrome and response (AR) in lymphocytes from 6 patients with Down syndrome (DS) were investigated. No AR was found to occur in all cases in DS cells pre-exposed to 3 rad of X-rays in S phase of cell cycle and then irradiated with 150 rad of gamma rays in G2 whereas the chromosome aberrations yield in cells from control donors was decreased twice under such conditions of the experiment.

[A familial form of progressive muscular dystrophy with multiple contractures of the major joints].

The paper treats of a case of progressive myodystrophy coupled with multiple contractures of the large joints. In an Uzbek family placed under observation and living in the Uzbek SSR, the disease was revealed in 3 members of the family (in mother and two children). Contractures of the large joints grew on parallel with the myodystrophic process.

[A benign variant of the course of Duchenne muscular dystrophy in a child with short stature].

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 .

[Hereditary spastic paraplegia with coordination disorders and sensorineural deafness].

The authors summarize the results of a follow-up study (clinico-electrophysiological) of the S. family living in the Namangan region of the Uzbek SSR. The familial anamnesis data provide evidence in favour of a probable autosomal recessive type of inheritance.

[A case of familial spastic paraplegia with the onset in early childhood].

A family in which 9 persons in three generations suffered from "pure" Strümpell's disease is described. The disease made is debut in early childhood and was characterized by slightly marked intrafamilial polymorphism. An electromyographic study was made.

[Proximal muscular dystrophy with contractures and malignant course: is it a variant of Emery-Dreifuss disease?].

The authors relate a unique observation of the familial form of proximal myodystrophy with early contractures and malignant course. The primary character of muscular injury was confirmed on electromyography. The data of electrocardiography and echocardiography attested to the presence in the patients of the signs of cardiomyopathy.

[Epileptic paroxysms in Recklinghausen's neurofibromatosis].

The paper is concerned with an analysis of the character, rate, outcomes and etiology of paroxysmal conditions in 18 children suffering from Recklinghausen's neurofibromatosis. The paroxysmal conditions were recorded in 22.5% of cases.

[Pseudohypertrophic proximal progressive muscular dystrophy with a malignant course manifesting itself in adolescence].

The authors describe an unique case of progressive muscular dystrophy in four brothers T. The disease was peculiar in its debut in adolescence, localization of muscular atrophies in proximal limbs, pseudohypertrophy of various muscular groups, malignant course of the myodystrophy with concomitant endocrine and metabolic disorders. A primarily muscular nature of the disease was confirmed in electrophysiological and pathological investigation.

[Familial case of late recessive X-linked Kennedy's spinal and bulbar amyotrophy].

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.

[Organization of therapeutic aid to patients with hereditary neuromuscular diseases].

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.

[Familial polymorphism of spinal amyotrophy in childhood].

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.

[Clinical polymorphism of Huntington chorea (data of the study of the Shamkhor focus in the Azerbaijan S.S.R.)].

The article analyzes the questions of polymorphism of clinical signs of Huntington chorea as investigated in an unique focus of the disease in Shamkhor region of Azerbaijan SSR. Possible determinants of the variability of the spectrum of clinical signs in different members of a family (age of onset, course and rate of development of the disease as assessed by electroneuromyographic investigation) are discussed.

[Pseudohypertrophic forms of progressive muscular dystrophy with the onset at puberty and a malignant course of the myodystrophic process].

The article describes two familial cases of pseudohypertrophic progressive muscular dystrophy with an onset in the pubertal age and a malignant course of the myodystrophic process. The cases presented are the first ever reported in the world literature. The questions of inter- and intrafamilial polymorphism of recessive X-linked forms of progressive muscular dystrophies are discussed.

[Autosomal-dominant motor-sensory neuropathy type I: intrafamilial polymorphism in the Roussy-Lévy syndrome].

A family is described in which 12 members in 3 generations suffered from hereditary type 1 motor-sensory neuropathy. Clinical and neurophysiological data allowed to regard the disease in 8 patients as a variant of Roussy-Lévy syndrome. Intrafamilial clinical polymorphism and differential diagnosis of the disease are discussed.

[A combination of Duchenne's progressive muscular dystrophy with congenital ichthyosis--a deletion or 2 independent gene mutations at Xp21--Xp22?].

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.

[Periodic paramyotonic paralysis].

A rare case of Eulenburg's paramyotonia and periodic paralysis combination is described in one family. The question of whether the disease presents a nosological entity is discussed with due consideration of its clinical polymorphism and the data of literature. Mapping the genes determining the disease would be decisive in this respect.

[Spontaneous level of sister chromatid exchanges in patients with tuberous sclerosis and Recklinghausen's neurofibromatosis].

It is shown that the average number of sister chromatid exchanges (SCE) per one cell in patients with tuberous sclerosis as well as in those with Recklinghausen's neurofibromatosis do not differ from the control. But the non-parametric methods of analysis have revealed differences in the spontaneous level of SCE is patients with tuberous sclerosis, while no such differences were revealed in patients with Recklinghausen's neurofibromatosis.

[Progressive nuclear ophthalmoplegic myopathy with retinitis pigmentosa, scrotal tongue and intellectual deterioration--a nosologically independent syndrome?].

This is the second reported description in the available literature of a family with nuclear ophthalmoplegic myopathy, pigment retinitis, scrotal tongue and intellectual deterioration. Nosological independence of the syndrome is discussed.