Abstract
Конечностно-поясная мышечная дистрофия — это генетически гетерогенная группа нарушений, которые характеризуются медленно прогрессирующей мышечной слабостью. Эта редкая патология представляет диагностическую проблему в практике врача-невролога. Комбинация клинических, рентгенологических и лабораторных методов обследования играет большую роль при направлении больного на генетическую диагностику и постановке правильного диагноза. Магнитно-резонансная томография мышц все чаще используется, чтобы дать подсказки в диагностике первичного поражения мышц, основываясь на специфических паттернах их поражения. В статье приводится пример комплексного подхода к диагностике прогрессирующих мышечных дистрофий с применением генетического анализа и магнитно-резонансной томографии мышц
Highlights
Limb-girdle muscular dystrophy (LGMD) is an umbrella term given to a diverse group of highly heterogeneous, rare, autosomal neuromuscular disorders with many subtypes categorized by disease genes and inheritance
Considering the genetic and phenotypic heterogeneity of this pathology, LGMD should be considered in almost all patients who complain of primary muscle weakness
Limb-girdle muscular dystrophy was determined according to criteria of the American Academy of Neurology and the American Association of Neuromuscular & Electrodiagnostic Medicine, which were endorsed by the American Academy of Physical Medicine and Rehabilitation, the Child Neurology Society, the Jain Foundation, and the Muscular Dystrophy Association [9], and 229th ENMC international workshop: Limb girdle muscular dystrophies — Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017 [3], and was confirmed by the genetic analysis and neuroimaging
Summary
Limb-girdle muscular dystrophy (LGMD) is an umbrella term given to a diverse group of highly heterogeneous, rare, autosomal neuromuscular disorders with many subtypes categorized by disease genes and inheritance. It is caused by mutations in more than 25 genes that encode numerous components of the myofiber, contractile apparatus, nuclear lamina, sarcolemma, or the cytoplasm. LGMD usually manifests itself in the proximal muscles around the hips and shoulders, causes weakness of the proximal muscles of the shoulder and pelvic girdle. Considering the genetic and phenotypic heterogeneity of this pathology, LGMD should be considered in almost all patients who complain of primary muscle weakness. Increased levels of creatine phosphokinase (CK) are observed in blood plasma
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