
Charcot-Marie-Tooth disease type 1A | About the Disease | GARD
Charcot-Marie-Tooth disease type 1A (CMT1A) is a type of inherited neurological disorder that affects the peripheral nerves. People with this disease experience weakness and wasting …
Charcot-Marie-Tooth Disease - StatPearls - NCBI Bookshelf
2024年6月22日 · CMT type 1A, the most common CMT neuropathy, is caused by a 1.5-Mb duplication of chromosome 17p11.2, resulting in trisomy of PMP22. Due to its large size, this …
腓骨肌萎缩症1A型/Charcot-Marie-Tooth disease, type 1A…
CMT1A患者一般10岁以内发病,呈慢性进展性病程,严重程度不同,外显率近于100%,部分患者无肌无力和肌萎缩,仅有弓形足或神经传导速度减慢,甚至无临床症状。 腓骨肌萎缩症1A型 …
Charcot-Marie-Tooth Disease Type 1A (CMT1A) - CMT Research Foundation
Charcot-Marie-Tooth disease type 1A is the most common form of CMT, accounting for about half of people with CMT. CMT1A is commonly referred to as “demyelinating” CMT. CMT1A, like …
CMT Type 1 | Charcot–Marie–Tooth Association
CMT1A is the most common form of CMT, comprising around 66 percent of all patients with CMT1. The disorder is caused by a duplication of the PMP22 gene on Chromosome 17. …
Charcot-Marie-Tooth Hereditary Neuropathy Overview
1998年9月28日 · Charcot-Marie-Tooth (CMT) hereditary neuropathy refers to a group of disorders characterized by a chronic motor and sensory polyneuropathy, also known as hereditary motor …
Charcot-Marie-Tooth disease type 1A - National Organization for …
Charcot-Marie-Tooth disease type 1A (CMT1A) is a type ofinherited neurological disorder that affects the peripheral nerves. Affected individuals experience weakness and wasting (atrophy) …
Charcot–Marie–Tooth Disease Type 1A (CMT1A)
CMT1A is the single most common form of Charcot-Marie-Tooth disease. This sub-type of CMT is caused by the duplication of the Peripheral Myelin Protein 22 (PMP22) gene, which leads to …
Patient Identification of the Symptomatic Impact of Charcot Marie Tooth …
The burden of Charcot Marie Tooth type 1A, the most common inherited peripheral neuropathy, including impact on patient quality of life is not well understood. This study aims to qualitatively …
Charcot-Marie-Tooth disease type 1A | MedLink Neurology
Charcot-Marie-Tooth disease type 1A (CMT1A) is the single most common subtype of Charcot-Marie-Tooth disease, with a reported prevalence of approximately 1 in 5000. Although several …
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