A cohort study ofMFN2mutations and phenotypic spectrums in Charcot-Marie-Tooth disease 2A patients

2014 ◽  
Vol 87 (6) ◽  
pp. 594-598 ◽  
Author(s):  
B.-O. Choi ◽  
K. Nakhro ◽  
H.J. Park ◽  
Y.S. Hyun ◽  
J.H. Lee ◽  
...  
Keyword(s):  
Cohort Study ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Falls in paediatric Charcot-Marie-Tooth disease: a 6-month prospective cohort study

2018 ◽  
Vol 104 (6) ◽  
pp. 535-540 ◽  
Author(s):  
Rachel A Kennedy ◽  
Kate Carroll ◽  
Graham Hepworth ◽  
Kade L Paterson ◽  
Monique M Ryan ◽  
...  
Keyword(s):  
Cohort Study ◽  
Children And Adolescents ◽  
Prospective Cohort Study ◽  
Prospective Cohort ◽  
Common Mechanism ◽  
Charcot Marie Tooth ◽  
Paediatric Hospital ◽  
Charcot Marie Tooth Disease ◽  
Injurious Falls ◽  
Tooth Disease

ObjectiveTo prospectively study falls in children and adolescents with Charcot-Marie-Tooth disease (CMT).DesignProspective cohort study.SettingNeuromuscular outpatient clinic of a tertiary paediatric hospital.PatientsSixty children and adolescents (‘children’) aged 4–18 years, 30 with CMT and 30 typically developing (TD).Main outcome measuresFalls rate over 6 months and falls characteristics questionnaire.ResultsTwenty-two children with CMT reported falling at least once in 6 months compared with eight TD children (CMT 2819 (0–1915), TD 31 (0–6) total falls (range)). Detailed falls characteristics were collected from 242 individual falls (CMT 216, TD 26). Injurious falls were reported by 19 children with CMT (74 falls) compared with 2 TD children (3 falls), with cuts, grazes and bruising most common. No fractures were sustained and no child required hospitalisation. However, 12 injuries from falls in children with CMT required management by a healthcare provider, versus none in TD children. Tripping was the most common mechanism of falls in both groups. Age was the strongest predictor of falls (ρ=−0.53, p=0.006) with all children (CMT and TD) aged <7 years falling. Balance was the strongest impairment-related predictor of falls (ρ=−0.47, p=0.02). The conservative estimate of risk of falls in children and adolescents with CMT was 33 times higher than their TD peers (incidence rate ratio=32.8, 95% CI 10.2 to 106.0).ConclusionsChildren and adolescents with CMT fall more often than TD peers and sustain more injuries when they fall.

scholarly journals Pregnancy outcome in Charcot–Marie–Tooth disease: results of the CMT‐NET cohort study in Germany

2020 ◽  
Vol 27 (8) ◽  
pp. 1390-1396
Author(s):  
S. Rudnik‐Schöneborn ◽  
S. Thiele ◽  
M. C. Walter ◽  
L. Reinecke ◽  
M. Sereda ◽  
...  
Keyword(s):  
Cohort Study ◽  
Pregnancy Outcome ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease
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