Journal of clinical neuromuscular disease · 2025
SYT2-Related Disease: A Case-Based Review.
СтатьяКлинический случайОбзорНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Fontana Pedro Nogueira, Correia Carolina da Cunha, Ferreira da Silva Ana Marina Dutra, Carvalho Alzira Alves de Siqueira
Аннотация
OBJECTIVES: Synaptotagmin-2-related disease is an ultrarare entity, characterized by distal muscle atrophy in the lower limbs, foot deformities and, in some cases, neonatal hypotonia. Most mutations are concentrated in the C2B domain, critical for the protein's function. Here, our objective is to review clinical, electrophisiological and pathological aspects of this disease.
METHODS: We describe a previously unreported variant, comparing it with another 27 cases described in the literature.
RESULTS: A 14-year-old boy was born with neonatal hypotonia, weak cry, and dysphonia. During childhood, he had recurrent respiratory infections, delayed motor development, and developed glaucoma. Creatine phosphokinase level was 501 U/L; EMG showed reduced compound muscle action potential, myopathic findings, and incremental response. A comprehensive next-generation sequence panel revealed a homozygous variant in the SYT2 gene.
CONCLUSIONS: The data summarized here and our case provide a general characterization of the phenotypic spectrum of SYT2-related disease and point out to its electrophysiological and pathological features. We discuss the intriguing aspects of a neuromuscular junction disease considered as a distal hereditary motor neuropathy.
METHODS: We describe a previously unreported variant, comparing it with another 27 cases described in the literature.
RESULTS: A 14-year-old boy was born with neonatal hypotonia, weak cry, and dysphonia. During childhood, he had recurrent respiratory infections, delayed motor development, and developed glaucoma. Creatine phosphokinase level was 501 U/L; EMG showed reduced compound muscle action potential, myopathic findings, and incremental response. A comprehensive next-generation sequence panel revealed a homozygous variant in the SYT2 gene.
CONCLUSIONS: The data summarized here and our case provide a general characterization of the phenotypic spectrum of SYT2-related disease and point out to its electrophysiological and pathological features. We discuss the intriguing aspects of a neuromuscular junction disease considered as a distal hereditary motor neuropathy.