常染色体隐性遗传肢带型肌营养不良症患者的临床进展模式：系统评价。

Patterns of Clinical Progression Among Patients With Autosomal Recessive Limb-Girdle Muscular Dystrophy: A Systematic Review.

机构信息

Broadstreet HEOR, Vancouver, BC, Canada.

Sarepta Therapeutics Inc, Cambridge MA; and.

出版信息

J Clin Neuromuscul Dis. 2023 Dec 1;25(2):65-80. doi: 10.1097/CND.0000000000000461.

DOI:10.1097/CND.0000000000000461

PMID:37962193

Abstract

OBJECTIVES

As the clinical course of autosomal recessive limb-girdle muscular dystrophy (LGMDR) is highly variable, this study characterized the frequency of loss of ambulation (LOA) among patients by subtype (LGMDR1, LGMDR2, LGMDR3-6, LGMDR9, LGMDR12) and progression to cardiac and respiratory involvement among those with and without LOA.

METHODS

Systematic literature review.

RESULTS

From 2929 abstracts screened, 418 patients were identified with ambulatory status data (LOA: 265 [63.4%]). Cardiac and/or respiratory function was reported for 142 patients (34.0%; all with LOA). Among these, respiratory involvement was most frequent in LGMDR3-6 (74.1%; mean [SD] age 23.9 [11.0] years) and cardiac in LGMDR9 (73.3%; mean [SD] age 23.7 [17.7] years). Involvement was less common in patients without LOA except in LGMDR9 (71.4% respiratory and 52.4% cardiac).

CONCLUSIONS

This study described the co-occurrence of LOA, cardiac, and respiratory involvement in LGMDR and provides greater understanding of the clinical progression of LGMDR.

摘要

目的

常染色体隐性遗传肢带型肌营养不良症（LGMDR）的临床病程变化较大，本研究通过亚型（LGMDR1、LGMDR2、LGMDR3-6、LGMDR9、LGMDR12）对丧失行走能力（LOA）患者的频率进行了特征描述，并对有无 LOA 的患者中出现心脏和呼吸受累的进展情况进行了描述。

方法

系统文献回顾。

结果

从筛选出的 2929 篇摘要中，共确定了 418 名具有步行状态数据的患者（LOA：265 [63.4%]）。有 142 名患者（所有 LOA）报告了心脏和/或呼吸功能情况。在这些患者中，LGMDR3-6 中最常出现呼吸受累（74.1%；平均[SD]年龄 23.9[11.0]岁），LGMDR9 中最常出现心脏受累（73.3%；平均[SD]年龄 23.7[17.7]岁）。除 LGMDR9 外（呼吸受累 71.4%，心脏受累 52.4%），无 LOA 的患者中受累情况较少见。