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The hereditary sensomotoric neuropathy.
Jelínková, Zora ; Daňková, Pavlína (advisor) ; Šolc, Roman (referee)
Hereditary motor and sensory neuropathy (in short HMSN or hereditary sensomotoric neuropathy) also known as Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous group of diseases which are the most frequent disorders affecting peripheral nervous system. The prevalence of these illnesses is generally 5 - 40 people per 100 000 inhabitants. CMT was first described in the 1886. Because of a large number of various types of mutations classification of HMSN is disunited. The main division of CMT depends on the median motor conduction velocity (and also on the part of nerve that was damaged). It is demyelinating (CMT 1) type and axonal (CMT 2) type. Further classification depends on the mode of heredity and phenotypic expression. Autosomal dominant CMT are divided into four main types - CMT 1A to D. Similar, CMT 2 could be distinguished by genetical subtype as well or, the classification can follow phenotypic expression. Beside the autosomal inherited HMSN, other types of hereditary sensomotoric diseases do exist: intermediate CMT, X-linked CMT, Déjerine-Sottas syndrom, congenital hypomyelination neuropathy and hereditary neuropathy with liability to pressure palsy. Individual types of HMSN are caused by mutations in various genes that are localized on different chomosomes. The...
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The hereditary sensomotoric neuropathy.
Jelínková, Zora ; Daňková, Pavlína (advisor) ; Šolc, Roman (referee)
Hereditary motor and sensory neuropathy (in short HMSN or hereditary sensomotoric neuropathy) also known as Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous group of diseases which are the most frequent disorders affecting peripheral nervous system. The prevalence of these illnesses is generally 5 - 40 people per 100 000 inhabitants. CMT was first described in the 1886. Because of a large number of various types of mutations classification of HMSN is disunited. The main division of CMT depends on the median motor conduction velocity (and also on the part of nerve that was damaged). It is demyelinating (CMT 1) type and axonal (CMT 2) type. Further classification depends on the mode of heredity and phenotypic expression. Autosomal dominant CMT are divided into four main types - CMT 1A to D. Similar, CMT 2 could be distinguished by genetical subtype as well or, the classification can follow phenotypic expression. Beside the autosomal inherited HMSN, other types of hereditary sensomotoric diseases do exist: intermediate CMT, X-linked CMT, Déjerine-Sottas syndrom, congenital hypomyelination neuropathy and hereditary neuropathy with liability to pressure palsy. Individual types of HMSN are caused by mutations in various genes that are localized on different chomosomes. The...
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