[Absence of radiation-induced adaptive response in lymphocytes of patients with Down's syndrome]. / Otsutsvie radiatsionno-indutsirovannogo adaptivnogo otveta v limfotsitakh bol'nykh s sindromom Dauna.

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]. / Semeinaia forma progressiruiushchei myshechnoi distrofii s mnozhestvennymi kontrakturami krupnykh sustavov.

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. The pattern of myodystrophy seen in the family was characterized by a number of unusual clinical features and by pronounced clinical pleomorphism. The differences of the clinical manifestations within the family lay in variability of the debut, localization and intensity of the contractures, and in the rate of the myodystrophy course.

[A benign variant of the course of Duchenne muscular dystrophy in a child with short stature]. / Dobrokachestvennyi variant techeniia miodistrofii Diushenna u rebenka s nizkoroslost'iu.

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.

[Hereditary spastic paraplegia with coordination disorders and sensorineural deafness]. / Semeinaia spasticheskaia paraplegiia s koordinatornymi narusheniiami i neirosensornoi glukhotoi.

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 combination of the disease signs has been defined: spasticity, deafness, ataxia and speech disorders. To specify the problem of the given syndrome nosology, further studies into gene mapping are required.

[Epileptic paroxysms in Recklinghausen's neurofibromatosis]. / Epilepticheskie paroksizmy pri neirofibromatoze Reklingkhauzena.

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. This exceeds the populational data and the data reported in the foreign literature. Perinatal pathology was noted to play an important role (89% of cases) in the development of the convulsive syndrome. A well-defined tendency towards a favourable outcome and polymorphism of the clinical picture (generalized attacks /54.5%/, focal /22.7%/, and non-classified ones /22.7%/ were also marked.

[Proximal muscular dystrophy with contractures and malignant course: is it a variant of Emery-Dreifuss disease?]. / Proksimal'naia miodistrofiia s kontrakturami i zlokachestvennym techeniem--variant bolezni Emeri-Dreifussa?

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. Since the disease was diagnosed in 3 brothers, the X-coupled recessive type of its inheritance is assumed. An opinion is advanced that the described form is a clinical variety of Emery-Dreyfus myodystrophy.

[A case of familial spastic paraplegia with the onset in early childhood]. / Sluchai semeinoi spasticheskoi paraplegii s debiutom v rannem detskom vozraste.

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. It has been proved that the pattern described is a "pure" disease variety inherited by the autosomal dominant type, with an early development of the clinical manifestations and slow progress of motor disturbances (up to 25 years). The nosology of the given disease pattern is under discussion.

[Clinical polymorphism of Huntington chorea (data of the study of the Shamkhor focus in the Azerbaijan S.S.R.)]. / Klinicheskii polimorfizm khorei Gentingtona (po dannym izucheniia Shamkhorskogo ochaga v Azerbaidzhanskoi SSR).

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.

[Organization of therapeutic aid to patients with hereditary neuromuscular diseases]. / Organizatsiia lechebnoi pomoshchi bol'nym s nasledstvennymi nervno-myshechnymi zabolevaniiami.

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.

[Familial case of late recessive X-linked Kennedy's spinal and bulbar amyotrophy]. / Semeinyi sluchai pozdnei retsessivnoi X-stseplennoi spinal'noi i bul'barnoi amiotrofii Kennedi.

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.

[Pseudohypertrophic proximal progressive muscular dystrophy with a malignant course manifesting itself in adolescence]. / Psevdogipertroficheskaia proksimal'naia progressiruiushchaia myshechnaia distrofiia s debiutom v podrostkovom vozraste i zlokachestvennym techeniem.

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. X-linked recessive inheritance of the progressive muscular dystrophy was supposed in T family. The issues of differential diagnosis, clinical polymorphism and genetical heterogeneity of X-linked recessive progressive muscular dystrophies are discussed.

[Familial polymorphism of spinal amyotrophy in childhood]. / Vnutrisemeinyi polimorfizm detskoi spina'lnoi amiotrofii.

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.

[Autosomal-dominant motor-sensory neuropathy type I: intrafamilial polymorphism in the Roussy-Lévy syndrome]. / Autosomno-dominantnaia motorno-sensornaia nevropatiia I tipa: vnutrisemeinyi polimorfizm sindroma Russi-Levi.

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.

[Pseudohypertrophic forms of progressive muscular dystrophy with the onset at puberty and a malignant course of the myodystrophic process]. / Psevdogipertroficheskie formy progressiruiushchikh myshechnykh distrofii s debiutom v pubertatnom vozraste i zlokachestvennym techeniem miodistroficheskogo protsessa.

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.

[Periodic paramyotonic paralysis]. / Periodicheskii paramiotonicheskii paralich.

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.