"hereditary neuropathy; Charcot-Marie-Tooth; pes cavus; electromyography; molecular genetics; marie-tooth-disease; muscular-atrophy syndrome; sensory neuropathy; central conduction; ascorbic-acid; nerve biopsy; mouse model; mutations; gene; motor"@en . . . "12"^^ . . . "Hor\u00E1\u010Dek, Ond\u0159ej" . . . "Smetana, Pavel" . . . "P(NR9517), Z(MZ0FNM2005)" . . "Heredit\u00E1rn\u00ED neuropatie"@cs . "RIV/00216208:11130/09:5138!RIV10-MZ0-11130___" . "Heredit\u00E1rn\u00ED neuropatie" . "Mazanec, Radim" . . "Heredit\u00E1rn\u00ED neuropatie jsou klinicky a geneticky heterogenn\u00ED skupinou chorob a p\u0159edstavuj\u00ED nej\u010Dast\u011Bj\u0161\u00ED d\u011Bdi\u010Dn\u00E9 neuromuskul\u00E1rn\u00ED onemocn\u011Bn\u00ED. Prevalence je p\u0159ibli\u017En\u011B 17-40 : 100 000. Nej\u010Dast\u011Bj\u0161\u00ED forma se ozna\u010Duje jako choroba Charcot-Marie-Toothova (CMT) neboli heredit\u00E1rn\u00ED motorick\u00E1 a senzitivn\u00ED neuropatie (HMSN). Klinick\u00E9 p\u0159\u00EDznaky se objevuj\u00ED nej\u010Dast\u011Bji v 1. a 2. dek\u00E1d\u011B, zahrnuj\u00ED atrofie a slabost sval\u016F doln\u00EDch kon\u010Detin (perone\u00E1ln\u00ED atrofie), deformitu nohy typu pes cavus se zkr\u00E1cen\u00EDm Achillovy \u0161lachy, areflexii na doln\u00EDch kon\u010Detin\u00E1ch a poruchu \u010Dit\u00ED pun\u010Dochovit\u00E9ho typu. Z\u00E1kladn\u00ED klasifikace heredit\u00E1rn\u00EDch neuropati\u00ED se op\u00EDr\u00E1 o elektrofyziologick\u00E9 studie, kter\u00E9 rozd\u011Bluj\u00ED CMT chorobu na dva z\u00E1kladn\u00ED typy. Typ 1 - demyeliniza\u010Dn\u00ED - s rychlost\u00ED veden\u00ED motorick\u00FDmi vl\u00E1kny n. medianus na p\u0159edlokt\u00ED pod 38 m/s, a typ 2 - axon\u00E1ln\u00ED - s rychlost\u00ED veden\u00ED nad 38 m/s." . "Heredit\u00E1rn\u00ED neuropatie"@cs . . . "Heredit\u00E1rn\u00ED neuropatie jsou klinicky a geneticky heterogenn\u00ED skupinou chorob a p\u0159edstavuj\u00ED nej\u010Dast\u011Bj\u0161\u00ED d\u011Bdi\u010Dn\u00E9 neuromuskul\u00E1rn\u00ED onemocn\u011Bn\u00ED. Prevalence je p\u0159ibli\u017En\u011B 17-40 : 100 000. Nej\u010Dast\u011Bj\u0161\u00ED forma se ozna\u010Duje jako choroba Charcot-Marie-Toothova (CMT) neboli heredit\u00E1rn\u00ED motorick\u00E1 a senzitivn\u00ED neuropatie (HMSN). Klinick\u00E9 p\u0159\u00EDznaky se objevuj\u00ED nej\u010Dast\u011Bji v 1. a 2. dek\u00E1d\u011B, zahrnuj\u00ED atrofie a slabost sval\u016F doln\u00EDch kon\u010Detin (perone\u00E1ln\u00ED atrofie), deformitu nohy typu pes cavus se zkr\u00E1cen\u00EDm Achillovy \u0161lachy, areflexii na doln\u00EDch kon\u010Detin\u00E1ch a poruchu \u010Dit\u00ED pun\u010Dochovit\u00E9ho typu. Z\u00E1kladn\u00ED klasifikace heredit\u00E1rn\u00EDch neuropati\u00ED se op\u00EDr\u00E1 o elektrofyziologick\u00E9 studie, kter\u00E9 rozd\u011Bluj\u00ED CMT chorobu na dva z\u00E1kladn\u00ED typy. Typ 1 - demyeliniza\u010Dn\u00ED - s rychlost\u00ED veden\u00ED motorick\u00FDmi vl\u00E1kny n. medianus na p\u0159edlokt\u00ED pod 38 m/s, a typ 2 - axon\u00E1ln\u00ED - s rychlost\u00ED veden\u00ED nad 38 m/s."@cs . . "Hereditary Neuropathy"@en . . . . . "Hereditary neuropathy is a clinically and genetically heterogeneous group of diseases which most often represent a hereditary neuromuscular disorder. The prevalence is approximately 17-40 per 100,000. The most frequent form is called Charcot-Marie-Tooth disease (CMT) or hereditary motor and sensitive neuropathy (HMSN). In most cases, the clinical symptoms appear in the 1(st) and 2(nd) decade and include atrophy and weakness of lower limb muscles (peroneal atrophy), the pes cavus deformity of the foot with a shortened Achilles tendon, areflexia in the lower limbs and the stocking type sensory disorder. The basic classification of hereditary neuropathies is based on electrophysiological studies which classify CMT disease into two basic types. Type no. 1 - demyelinisation - with the n. medianus motor fibre conduction velocity at forearm below 38 m/s, and type no. 2 - axonal - with a velocity above 38 m/s."@en . "000263774600001" . . "4"^^ . "RIV/00216208:11130/09:5138" . . . . . . . . . "Hereditary Neuropathy"@en . "1210-7859" . "\u010Cesk\u00E1 a slovensk\u00E1 neurologie a neurochirurgie" . "[553EEEDD73DD]" . "Kobesov\u00E1, Alena" . "4"^^ . "1" . . . "Heredit\u00E1rn\u00ED neuropatie" . . "11130" . "72" . . "CZ - \u010Cesk\u00E1 republika" . "317012" . . .