Proximal Lower-Limb Weakness in Charcot-Marie-Tooth Disease—Reply

2013 ◽  
Vol 70 (12) ◽  
pp. 1587
Author(s):  
Ki Wha Chung ◽  
Sang Soo Lee ◽  
Young Bin Hong ◽  
Jeong Hyun Yoo ◽  
Byung-Ok Choi
Keyword(s):  
Lower Limb ◽  
Limb Weakness ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Lower Limb Weakness ◽  
Proximal Lower Limb ◽  
Tooth Disease

Biomechanical effects of sensorimotor orthoses in adults with Charcot–Marie–Tooth disease

2015 ◽  
Vol 40 (4) ◽  
pp. 436-446 ◽  
Author(s):  
Caleb Wegener ◽  
Katrin Wegener ◽  
Richard Smith ◽  
Karl-Heinz Schott ◽  
Joshua Burns
Keyword(s):  
Lower Limb ◽  
Repeated Measures ◽  
Three Dimensional ◽  
Walking Ability ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Inherited Neuropathy ◽  
Custom Made ◽  
Patient Reported ◽  
Tooth Disease

Background: Charcot–Marie–Tooth disease is an inherited neuropathy causing progressive weakness, foot deformity and difficulty walking. Clinical anecdotes suggest orthoses designed on the ‘sensorimotor’ paradigm are beneficial for improving gait in Charcot–Marie–Tooth disease. Objectives: Investigate the effect of sensorimotor orthoses on in-shoe and lower limb biomechanics in adults with Charcot–Marie–Tooth disease. Study design: Randomised, repeated-measures, exploratory study. Methods: Eight males and two females with Charcot–Marie–Tooth disease aged 31–68 years fitted with pedorthic shoes and custom-made sensorimotor orthoses were randomly tested at baseline and after 4 weeks of adaptation. In-shoe three-dimensional multi-segment foot and lower limb kinematics and kinetics were collected as were plantar pressures, electromyography and self-reported comfort, stability, cushioning and preference. Results: Compared to the shoe only condition, sensorimotor orthoses increased midfoot eversion and plantarflexion, increased ankle eversion and produced small but significant changes at the knee and hip indicating increased internal rotation. The orthoses increased medial ground reaction forces and increased pressure at the heel, midfoot and toes. There were minimal effects on electromyography. The sensorimotor orthoses were rated higher for comfort, cushioning, stability and preference. Conclusion: Sensorimotor orthoses produced changes in kinematic, kinetic and pressure variables in adults with Charcot–Marie–Tooth disease and were regarded as more comfortable, cushioned and stable during walking. Clinical relevance In this study, the walking ability of patients with Charcot–Marie–Tooth disease improved with the use of foot orthoses designed according to the sensorimotor paradigm. However, the mechanism of action appears to be primarily mechanical in origin. Randomised controlled trials are necessary to evaluate the long-term patient-reported outcomes of sensorimotor orthoses.

scholarly journals A Case Report of a Patient with Charcot-Marie-Tooth Disease Complaining about Lower Limb Pain

2018 ◽  
Vol 39 (6) ◽  
pp. 1321-1328
Author(s):  
Hee-young Moon ◽  
Gwang-hyun Ryu ◽  
Won-jung Choo ◽  
Yo-sup Choi ◽  
Ji-won Park ◽  
...  
Keyword(s):  
Case Report ◽  
Lower Limb ◽  
Limb Pain ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Lower Limb Pain ◽  
Tooth Disease

Evolution of Charcot–Marie–Tooth disease type 1A duplication: a 2-year clinico-electrophysiological and lower-limb muscle MRI longitudinal study

2014 ◽  
Vol 261 (4) ◽  
pp. 675-685 ◽  
Author(s):  
Ana L. Pelayo-Negro ◽  
Elena Gallardo ◽  
Antonio García ◽  
Pascual Sánchez-Juan ◽  
Jon Infante ◽  
...  
Keyword(s):  
Longitudinal Study ◽  
Lower Limb ◽  
Disease Type ◽  
Lower Limb Muscle ◽  
Limb Muscle ◽  
Muscle Mri ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

scholarly journals A homozygous SH3TC2 mutation in a Korean patient with Charcot–Marie–Tooth disease type 4C

2021 ◽  
Vol 26 (4) ◽  
pp. 835-837
Author(s):  
Je-Young Shin ◽  
Jong-Mok Lee
Keyword(s):  
Autosomal Recessive ◽  
Disease Type ◽  
Compound Heterozygous ◽  
Limb Weakness ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Slow Conduction ◽  
Whole Exome ◽  
Dependent Probe ◽  
Tooth Disease

Charcot–Marie–Tooth disease type 4C (CMT4C) is an autosomal recessive neuropathy associated with SH3TC2 mutations, resulting in slow conduction velocity via hypomyelination. The occurrence of CMT4C in demyelinating Charcot–Marie–Tooth (CMT) varies among ethnicities, and several variants have been reported as the founder mutation. In Korea, the incidence of CMT4C was calculated as approximately 2%, and all patients have compound heterozygous mutations, which is partly due to the prohibition of consanguineous marriage. Herein, we describe a 25-year-old male who presented a slowly progressive limb weakness and impaired vibration sensation. Whole-exome sequencing revealed homozygous variants c.929G>A of SH3TC2 after identifying negative multiplex ligation-dependent probe amplification results of PMP22. Based on our literature review, this is the first CMT4C patient with a homozygous variant with each allele inherited from both the parents.

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