Teunissen Laurien L, Notermans Nicolette C, Franssen Hessel, Van Engelen Baziel G M, Baas Frank, Wokke John H J
Department of Neurology, Rudolf Magnus Institute, University Medical Center Utrecht, Utrecht, The Netherlands.
Arch Neurol. 2003 Jun;60(6):823-8. doi: 10.1001/archneur.60.6.823.
Charcot-Marie-Tooth disease (CMT) type 2 is the axonal variant of an inherited, sensorimotor polyneuropathy. To our knowledge, the clinical course of CMT type 2 has never been prospectively studied in a large group of patients.
To prospectively evaluate the disease course of patients with CMT type 2.
We prospectively evaluated the disease course in patients with CMT type 2. Forty-three patients (24 men) of 27 families with CMT type 2 were included. All patients were analyzed by the same investigator at entry and after 5 years. The standardized protocol included manual muscle testing, which could lead to a motor sum score of 140 points, and quantification of sensory deficit. Disability was assessed using the modified Rankin scale, and quality of life was assessed using the RAND 36-item health survey questionnaire. Eighteen families were tested for known mutations in the MPZ, PMP22, and GJB1 genes.
At entry, the mean +/- SD age of the patients was 52 +/- 14 years, and the mean +/- SD duration of disease was 12 +/- 8 years. The median motor sum score deteriorated from 135 to 128 points (P =.02). Progression was never rapid. There was no sensory deterioration. The Rankin score decreased by 1 point in 16 patients. At follow-up, more patients needed walking aids, but most patients remained ambulant. The number of patients with claw toes increased, whereas the number of patients with foot deformities such as pes cavus and short calf muscles remained stable. There was no correlation between deterioration and age. Analysis of quality of life did not show any changes. In one family, a mutation in the GJB1 gene was found.
This prospective study shows a slow deterioration of muscle strength and increase in disability in CMT type 2 during a 5-year follow-up period.
2型腓骨肌萎缩症（CMT）是一种遗传性感觉运动性多神经病的轴索性变异型。据我们所知，从未对一大组2型CMT患者的临床病程进行过前瞻性研究。
前瞻性评估2型CMT患者的疾病病程。
我们前瞻性评估了2型CMT患者的疾病病程。纳入了27个2型CMT家庭的43例患者（24例男性）。所有患者在入组时和5年后均由同一名研究者进行分析。标准化方案包括徒手肌力测试（该测试可得出最高140分的运动总分）以及感觉功能障碍的量化评估。使用改良Rankin量表评估残疾情况，使用兰德36项健康调查问卷评估生活质量。对18个家庭进行了MPZ、PMP22和GJB1基因已知突变的检测。
入组时，患者的平均年龄±标准差为52±14岁，平均病程±标准差为12±8年。运动总分中位数从135分降至128分（P = 0.02）。病情进展从未迅速。感觉功能无恶化。16例患者的Rankin评分下降了1分。随访时，更多患者需要助行器，但大多数患者仍可独立行走。爪形趾患者数量增加，而诸如高弓足和小腿肌肉短小等足部畸形患者数量保持稳定。病情恶化与年龄之间无相关性。生活质量分析未显示任何变化。在一个家庭中发现了GJB1基因的突变。
这项前瞻性研究表明，在5年随访期内，2型CMT患者的肌肉力量缓慢下降，残疾程度增加。
