[Epidemiology and clinical polymorphism of the humero-scapulo-facial form of progressive muscular dystrophy]. / Epidemiologiia i klinicheskii polimorfizm plechelopatochnolitsevoi formy progressiruiushchei myshechnoi distrofii.

The paper is concerned with a clinico-genealogic analysis of 9 patients with the humeroscapular form of Landouzy-Dejerine myodystrophy. The patients come from 4 families united by the common ancestor. The following aspects of the illness are marked: a mild course and considerable clinical polymorphism manifesting itself in the age difference by the disease onset as well as in the intensity of the clinical symptoms. These characteristics are of practical importance for regional medicogenetic counselling.

[Epidemiology and cases of early manifestations of Huntington chorea]. / Ob épidemiologii i sluchaiakh rannei manifestatsii khorei Gentingtona.

The authors present some comparative data about the epidemiology of Huntington's chorea and describe a family (father and 5 children) with an unusually early onset (during the first year of life) of the typical combination of choreiform hyperkineses and slowly progressive dementia without any other focal lesions of the nervous system. The course of the disease is very mild and the type of inheritance is dominant.

[Regional clinico-genetic features of myotonias]. / O regional'nykh kliniko-geneticheskikh osobennostiakh miotonii.

The incidence of myotonia in the South-West regions of Uzbekistan is 1.6:100000 of the population. Its proportion among other hereditary diseases of the nervous system is 8.2% and among neuromuscular abnormalities--2.6%. Furthermore, it has been also established that an autosomal-recessive form of non-atrophic myotonia is rather prevalent in this region. It has a number of clinical characteristics which differentiate it from a generalized recessive form prevalent in West Europe.

[New variant of a rare neurocutaneous syndrome]. / O novom variante redkogo neiro-kozhnogo sindroma.

Rare unusual syndromes of hereditary pathology are the most frequent in inbred families. The authors present a clinico-genealogical description of an inbred family in which the neurocutaneous syndrome was observed in four sibs. The syndrome consisted in combination of ichthyosis with spastic paraparesis which manifested itself in the presence of normal body height and a good intellectual level. In two nephews of the diseases a spastic paraparesis was suspected. The syndrome described cannot be placed into the limits of known disease entities and should be regarded as a new variant of the neurocutaneous syndrome. The family is subject to further observation.

[Clinico-genealogic analysis of 2 families with an unusual syndrome combining dwarfism with dysostosis of the facial cranium and pyramido-extrapyramidal pathology]. / Kliniko-genealogicheskoi analiz dvukh semei so svoeobraznym sindromom sochetaniia karlikovosti s dizostozom litsevogo cherapa i piramidno-ékstrapiramidnoi patologiei.

The presentation is concerned with a clinico-genealogical analysis of 7 patients from 2 relative famalies with inbreeding marriages. In all patients the authors observed a peculiar syndrome of combination of proportional dwarfism with dysostosis of the facial cranium and pyramidal-extrapyramidal pathology of a different degree of expressiveness. The onset of the disease was at the end of the 1st year of life with a following steady progression. The given syndrome is of great interest as a rare autosomno-recessive form of hereditary diseases which has not been described in literature.

[Prevalence and features of the course of syringomyelia in the Samarkand region of the tuzbek SSR]. / O rasprostranennosti i osobennostiakh techeniia siringomielii v Samarkandskoi oblasti Uzbekskoi SSR

The paper is concerned with a clinico-statistical study of syringomyelia according to the data of neurological hospitals in the Samarkand region from 1931--1970. It was established that the portion of syringomyelia among other diseases of the nervous system is much lower (0.38%) than in other more northern regions of the country (3--7%). The author marks a significantly greater amount of patients among the city population rather than in the rural population (2/3) and a prevalence of non-natives over natives (more than 2/3). The development of syringomyelia is more milder, "benign", especially in the native population. Quite possibly this may be connected with the climatic-geographical and bio-geochemical traits of the Zarafshanskaya valley, which differs to a great extent from these indices of the territory between the Vyatka and Kama rivers where syringomyelia is frequently encountered.

[Medico-genetic study of isolates in Uzbekistan. IV. Clinico-biochemical diagnosis of hereditary diseases]. / Mediko-geneticheskoe izuchenie izoliatov v Uzbekistane. Soobshchenie IV. Kliniko-biokhimicheskaia diagnostika nasledstvennykh boleznei

An exhaustive clinico-biochemical examination of the population of two kishlaks of the Samarkand Region, viz. Karakent (210 persons) and Ishan (248 persons) was carried out. The program of this examination permitted to exclude over 160 forms of hereditary pathology. A total of 45 persons affected with diseases belonging to 12 nosological forms were revealed in the course of the examination. Among the diseases observed only 5 are hereditary sensu stricto, viz. myoclonus-epilepsy, Bonevi-Ulrich's syndrome, imperfect osteogenesis, pigment choreoretinite and Down's syndrome, others belong to diseases with a pronounced hereditary predisposition. The main part of this group comprises neuro-psychic diseases, such as non-differentiated olygophreny (5.0%), epilepsy (1.3%), schizophreny; many of these cases have a familial character, particularly in Karakent. Besides the persons suffering from diseases, 20 heterozygous carriers of beta-thalassemia and 17 heterozygous carriers of G6PD-deficiency were discovered in the kishlaks examined. On the whole the frequency of the diseases revealed did not exceed the level in the general population. Despite the different degree of isolation of the kishlaks examined (Karakent is isolated on a religious basis, F = 0.0064; while Ishan is a desintagrated isolate, F = = 0.0014), no substantial differences between them in the distribution of pathological phenomena were observed. On the basis of the experience of this expedition recomendations are proposed concerning the origination and accomplishment of medico-genetic expeditions. A scheme is proposed for the performance of medico-genetic examination through several stages. The first stage in the composition of tentative maps of the distribution of hereditary diseases within a region on the basis of the information obtained from the medical personnel and from the examination of the documents of district and regional hospitals. Subsequently the primary information is specified, the regions to be examined are determined, as well as concrete tasks and the staff of the expedition. The conclusive stage is the medico-genetic examination proper, including clinical, biochemical, immunological and cytogenetic diagnoses of hereditary pathological phenomena. The place of the disposition is a village or a district hospital. More complicated laboratory studies should be performed on the basis of the institution by which the expedition is formed. The results obtained by such expeditions would be important for the investigation of the problems of genogeography, for the discovery of new forms of mutant alleles, for the investigation of the causes and the conditions of the formation of the definite populational structure, of clinical polymorphism of human hereditary diseases.