Gait and footwear in children and adolescents with Charcot-Marie-Tooth disease: A cross-sectional, case-controlled study

2018 ◽  
Vol 62 ◽  
pp. 262-267 ◽  
Author(s):  
Rachel A. Kennedy ◽  
Jennifer L. McGinley ◽  
Kade L. Paterson ◽  
Monique M. Ryan ◽  
Kate Carroll
2018 ◽  
Author(s):  
Rachel Kennedy ◽  
Kate Carroll ◽  
Kade L. Paterson ◽  
Monique M. Ryan ◽  
Joshua Burns ◽  
...  

Background Disability related to the progressive and degenerative neuropathies known as Charcot-Marie-Tooth disease (CMT) affects gait and function, increasing with age and influencing physical activity in adults with CMT. The relationship between disease, ambulatory function and physical activity in children and adolescents with CMT is unknown. Method A cross-sectional case-controlled study of 50 children with CMT and age- and gender-matched typically developing (TD) controls [mean age 12.5 (SD 3.9) years]. A 7-day recall questionnaire assessed physical activity; disease severity and gait-related function were measured to explore factors associated with physical activity. Results Children with CMT were less active than TD controls (estimated weekly moderate to vigorous physical activity CMT 283.6 (SD 211.6) mins, TD 318.0 (SD 202.5) mins; p < 0.001). The children with CMT had moderate disability [CMT Pediatric Scale mean score 20 (SD 8) /44] and reduced ambulatory capacity in a six-minute walk test [CMT 485.1 (SD 160.9) metres, TD 639.8 (83.1) metres; p < 0.001]. Physical activity correlated with greater disease severity (ρ = -0.52, p < 0.001) and six-minute walk distance (ρ = 0.71, p < 0.001). Conclusions Disease-related disability affects physical activity and gait-related function in children and adolescents with CMT compared to TD peers. Reduced physical activity adversely affects function across the timespan of childhood and adolescence into adulthood.


2017 ◽  
Vol 27 (7) ◽  
pp. 658-666 ◽  
Author(s):  
Rachel Kennedy ◽  
Kate Carroll ◽  
Kade L. Paterson ◽  
Monique M. Ryan ◽  
Jennifer L. McGinley

2017 ◽  
Vol 56 ◽  
pp. 89-94 ◽  
Author(s):  
Elizabeth Wojciechowski ◽  
Amy Sman ◽  
Kayla Cornett ◽  
Jacqueline Raymond ◽  
Kathryn Refshauge ◽  
...  

2018 ◽  
Vol 104 (6) ◽  
pp. 535-540 ◽  
Author(s):  
Rachel A Kennedy ◽  
Kate Carroll ◽  
Graham Hepworth ◽  
Kade L Paterson ◽  
Monique M Ryan ◽  
...  

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.


Neurology ◽  
2017 ◽  
Vol 89 (9) ◽  
pp. 927-935 ◽  
Author(s):  
Francis B. Panosyan ◽  
Matilde Laura ◽  
Alexander M. Rossor ◽  
Chiara Pisciotta ◽  
Giuseppe Piscosquito ◽  
...  

Objective:To extend the phenotypic description of Charcot-Marie-Tooth disease (CMTX1) and to draw new genotype-phenotype relationships.Methods:Mutations in GJB1 cause the main X-linked form of CMTX (CMTX1). We report cross-sectional data from 160 patients (from 120 different families, with 89 different mutations) seen at the Inherited Neuropathies Consortium centers.Results:We evaluated 87 males who had a mean age of 41 years (range 10–78 years) and 73 females who had a mean age of 46 years (range 15–84 years). Sensory-motor polyneuropathy affects both sexes, more severely in males than in females, and there was a strong correlation between age and disease burden in males but not in females. Compared with females, males had more severe reduction in motor and sensory neurophysiology parameters. In contrast to females, the radial nerve sensory response in older males tended to be more severely affected compared with younger males. Median and ulnar nerve motor amplitudes were also more severely affected in older males, whereas ulnar nerve motor potentials tended to be more affected in older females. Conversely, there were no statistical differences between the sexes in other features of the disease, such as problems with balance and hand dexterity.Conclusions:In the absence of a phenotypic correlation with specific GJB1 mutations, sex-specific distinctions and clinically relevant attributes need to be incorporated into the measurements for clinical trials in people with CMTX1.ClinicalTrials.gov identifier:NCT01193075.


2017 ◽  
Vol 23 (2) ◽  
pp. e1702 ◽  
Author(s):  
Gita M. Ramdharry ◽  
Louise Reilly-O'Donnell ◽  
Robert Grant ◽  
Mary M. Reilly

2021 ◽  
Vol 86 ◽  
pp. 112-119
Author(s):  
Juliana Cardoso ◽  
Cyntia R.J. Alves de Baptista ◽  
Cristina D. Sartor ◽  
Adriana H. Nascimento Elias ◽  
Wilson Marques Júnior ◽  
...  

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