Open AccessHereditary nervous disorders in Mari El
Author(s) -
G. E. Rudenskaya,
S. A. Klyushnikov,
I. S. Moshkina
Publication year - 1996
Publication title -
kazanskij medicinskij žurnal
Language(s) - English
Resource type - Journals
eISSN - 2587-9359
pISSN - 0368-4814
DOI - 10.17816/kazmj104503
Subject(s) - ethnic group , nervous system , hereditary diseases , population , genetic syndromes , founder effect , central nervous system , medicine , genetics , biology , pediatrics , psychiatry , allele , environmental health , gene , sociology , anthropology , haplotype
The population genetic study of hereditary nervous disorders is performed in Mari El (6 regions, total population 224100, including 144100 ethnic Maries and 66100 ethnic Russians). Overall hereditary nervous disorders prevalence is 25,44 per 1, including 21,86 in Maries and 32,52 in Russians, the load of X-linked and autosomal recessive disorders being heavier than that of autosomal dominant disorders. The hereditary nervous disorders spectrum includes 24 nosologies neuromuscular disorders predominantly. Clinical and genetic characteristics of some cases are presented.