PMID- 33455129
OWN - NLM
STAT- MEDLINE
DCOM- 20210119
LR  - 20210119
IS  - 0376-2491 (Print)
IS  - 0376-2491 (Linking)
VI  - 101
IP  - 2
DP  - 2021 Jan 12
TI  - [The application of scales and characteristics of disability in the common 
      genotypes of Charcot-Marie-Tooth disease].
PG  - 131-136
LID - 10.3760/cma.j.cn112137-20200415-01205 [doi]
AB  - Objective: To analyze the correlations among different common scales for 
      evaluating the severity of the first-visit Charcot-Marie-Tooth disease (CMT), and 
      explore the cross-sectional characteristics of neurological dysfunction in 
      patients with four common genotypes (CMT1A, CMT1X, CMT2A and MPZ-related CMT) at 
      their first visits. Methods: A total of 117 genetically confirmed CMT patients 
      (aged >/=10 years) from the Department of Neurology of the Third Xiangya Hospital 
      from 2009 to 2019 were included in the study, which consisted of 45 CMT1A, 41 
      CMT1X, 19 CMT2A, and 12 MPZ-related CMT patients. Clinical data of these patients 
      at first visits were collected and neurological deficits were evaluated by 
      Charcot-Marie-Tooth Neuropathy Score (CMTNS), Charcot-Marie-Tooth Examination 
      Score (CMTES), Overall Neuropathy Limitation Scale (ONLS) and Functional 
      Disability Scale (FDS). Spearman's correlation was performed to analyze the 
      relationship between CMTNS, CMTES, ONLS and FDS. The age of onset, duration of 
      disease, scores of CMTNS, CMTES, ONLS and FDS were compared among four genotypes. 
      Results: In the 117 CMT patients, the male to female ratio was 1.79/1, and the 
      age of onset was (19+/-13) years. The duration of disease was 10(3, 15) years, and 
      the scores of CMTNS, CMTES, ONLS and FDS were 11.4+/-6.2, 8.8+/-5.7, 2.7+/-1.4 and 
      2.6+/-1.3, respectively. There was a significant correlation between CMTES, ONLS, 
      FDS and CMTNS in the overall CMT patients and four subtypes respectively (r>/=0.40, 
      P<0.05). CMTNS, CMTES and ONLS scores of four subtypes showed positive 
      correlations with duration of disease (P<0.05), but FDS scores of CMT1A, CMT1X 
      and MPZ-related CMT patients exhibited no correlation with duration of disease 
      (P>0.05) at their first visits. The age of onset in CMT2A patients was younger 
      than that of the patients with the other three genotypes (P<0.05), furthermore, 
      the scores of four scales in early-onset CMT2A patients were higher than those of 
      adult-onset type CMT2A patients (CMTNS: P=0.031, CMTES: P=0.048, ONLS: P=0.042, 
      FDS: P=0.047). In CMT1X patients, the males had higher scores than those of 
      females for all four scales (CMTNS: P=0.028, CMTES: P=0.014, ONLS: P=0.023, FDS: 
      P=0.002). Conclusions: CMTNS, CMTES and ONLS could be used in natural history 
      studies and clinical trials according to the different clinical situations. In 
      the four genotypes, CMT2A patients have younger age of onset, and the earlier the 
      age of onset, the severer the dysfunction. Moreover, male CMT1X patients 
      relatively have severer neurological dysfunction than female patients.
FAU - Liu, X
AU  - Liu X
AD  - Department of Neurology, the Third Xiangya Hospital of Central South University, 
      Changsha 410013, China.
FAU - Zhang, R X
AU  - Zhang RX
AD  - Department of Neurology, the Third Xiangya Hospital of Central South University, 
      Changsha 410013, China.
FAU - Liu, L
AU  - Liu L
AD  - Health Management Center, the Third Xiangya Hospital of Central South University, 
      Changsha 410013, China.
FAU - Xie, Y Z
AU  - Xie YZ
AD  - Department of Neurology, the Third Xiangya Hospital of Central South University, 
      Changsha 410013, China.
FAU - Lin, Z Q
AU  - Lin ZQ
AD  - Department of Neurology, the Third Xiangya Hospital of Central South University, 
      Changsha 410013, China.
FAU - Zhao, Q
AU  - Zhao Q
AD  - Department of Neurology, the Third Xiangya Hospital of Central South University, 
      Changsha 410013, China.
FAU - Cao, W Q
AU  - Cao WQ
AD  - Department of Neurology, the Third Xiangya Hospital of Central South University, 
      Changsha 410013, China.
FAU - Zhu, X Y
AU  - Zhu XY
AD  - Department of Neurology, the Third Xiangya Hospital of Central South University, 
      Changsha 410013, China.
FAU - Li, X B
AU  - Li XB
AD  - Department of Neurology, the Third Xiangya Hospital of Central South University, 
      Changsha 410013, China.
LA  - chi
GR  - 81771366/National Natural Science Foundation of China/
GR  - A2017001/Science Foundation of Health and Family Planning Commission of Hunan 
      Province/
GR  - 2017JJ2365/Hunan Provincial Natural Science Foundation/
PT  - Journal Article
PL  - China
TA  - Zhonghua Yi Xue Za Zhi
JT  - Zhonghua yi xue za zhi
JID - 7511141
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - *Charcot-Marie-Tooth Disease/genetics
MH  - Child
MH  - Cross-Sectional Studies
MH  - Female
MH  - Genotype
MH  - Humans
MH  - Male
MH  - Young Adult
OTO - NOTNLM
OT  - Charcot-Marie-Tooth disease
OT  - Cross-sectional studies
OT  - Motor skills disorders
EDAT- 2021/01/18 06:00
MHDA- 2021/01/20 06:00
CRDT- 2021/01/17 21:37
PHST- 2021/01/17 21:37 [entrez]
PHST- 2021/01/18 06:00 [pubmed]
PHST- 2021/01/20 06:00 [medline]
AID - 10.3760/cma.j.cn112137-20200415-01205 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Za Zhi. 2021 Jan 12;101(2):131-136. doi: 
      10.3760/cma.j.cn112137-20200415-01205.