Top 10 Clinical Pearls in Inherited Neuropathies

被引：0
作者：
Patel, Ruchee [1 ]
Mukherjee-Clavin, Bipasha [1 ]
机构：
[1] Johns Hopkins Univ, Sch Med, Dept Neurol, Baltimore, MD 21205 USA
来源：
SEMINARS IN NEUROLOGY | 2025年 / 45卷 / 01期
关键词：
inherited neuropathies; Charcot-Marie-Tooth disease; genetic neuropathy; MARIE-TOOTH DISEASE; FRIEDREICHS-ATAXIA; FABRY DISEASE; MANAGEMENT; SCOLIOSIS; EXERCISE; ANKLE; RFC1;
D O I：
10.1055/s-0044-1791520
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
The inherited neuropathies are a clinically and genetically heterogeneous collection of neuropathies that neurologists, particularly neuromuscular specialists, must be familiar with. They include Charcot-Marie-Tooth disease, which is common yet currently lacks targeted treatment, and hATTRV polyneuropathy, which is rare but has disease-modifying gene therapies. With a focus on emerging new genes and treatments, this article offers a recent update on clinical diagnosis and management of inherited neuropathies.
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收藏
页码：88 / 98
页数：11
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