Limb girdle muscular dystrophies

Czech version

Authors: L. Mensová; D. Baumgartner; V. Potočková; R. Mazanec
Authors‘ workplace: Neurologická klinika 2. LF UK a FN Motol, Praha
Published in: Cesk Slov Neurol N 2022; 85(6): 435-448
Category: Minimonography
doi: https://doi.org/10.48095/cccsnn2022435

Overview

Termín pletencové svalové dystrofie (limb girdle muscular dystrophy; LGMD) byl poprvé použit v roce 1954 J. N. Waltonem a F. Nattrassem. Autoři se jím snažili vymezit další klinickou jednotku vedle častější X-vázané Duchennovy muskulární dystrofie a autozomálně dominantně dědičných myotonické a facioskapulohumerální svalové dystrofie (FSHD). V dalších letech přibývalo poznatků a publikací popisujících jednotlivé LGMD nejen s autozomálně recesivním, ale také dominantním typem dědičnosti. Bylo zjevné, že LGMD nebude jedním onemocněním, nýbrž zastřešujícím termínem pro celou skupinu velmi variabilních klinických jednotek s různým genetickým i patofyziologickým podkladem. Prudký rozvoj molekulární genetiky (zejména technik sekvenování nové generace) vedl k objevení velkého množství nových asociovaných genů. Nová klasifikace z roku 2018 definuje více než 30 subtypů LGMD a je koncipována s předpokladem, že i v budoucnosti budou přibývat další. Tato publikace přináší stručný přehled dostupných informací o LGMD a jejich epidemiologii, patogenezi, fenotypických znacích vč. popisu nejčastějších klinických jednotek, diagnostice, diferenciální diagnostice a dostupných a vyvíjených možnostech terapie.

Keywords:

limb girdle muscular dystrophies – myopathies

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