Development and validation of the Charcot-Marie-Tooth Disease Infant Scale.

Many genetic subtypes of Charcot-Marie-Tooth disease (CMT) show signs of symptomatic disease during the earliest years of life. This might be the ideal time to intervene before progression of clinical sequelae due to demyelination and axonal loss. In the absence of disease-specific clinical trial outcome measures for CMT during infancy and early childhood the aim of this study was to develop and validate a functional measure of disease severity, known as the Charcot-Marie-Tooth disease Infant Scale (CMTInfS).

Safety and efficacy of progressive resistance exercise for Charcot-Marie-Tooth disease in children: a randomised, double-blind, sham-controlled trial.

Background: Exercise is potentially therapeutic for neuromuscular disorders, but a risk of harm exists due to overwork weakness. We aimed to assess the safety and efficacy of progressive resistance exercise for foot dorsiflexion weakness in children with Charcot-Marie-Tooth disease.

Methods: We did this randomised, double-blind, sham-controlled trial across the Sydney Children's Hospitals Network (NSW, Australia).

Functional outcome measures for infantile Charcot-Marie-Tooth disease: a systematic review.

A functional outcome measure for infants (aged 0-3 years) with Charcot-Marie-Tooth (CMT) disease is needed for upcoming disease-modifying trials. A systematic review of outcome measures for infants with neuromuscular disorders was completed to determine if validated measures were available for the CMT infant population. We assessed 20,375 papers and identified seven functional outcome measures for infants with neuromuscular disorders.

Repeatability, consistency, and accuracy of hand-held dynamometry with and without fixation for measuring ankle plantarflexion strength in healthy adolescents and adults.

Introduction: Hand-held dynamometry (HHD) is commonly used to measure ankle plantarflexion strength but has variable reliability measuring higher forces. Fixed HHD is suggested to improve reliability. We, therefore, compared the reliability, consistency, and accuracy of measuring plantarflexion strength.

Correlates of functional ankle instability in children and adolescents with Charcot-Marie-Tooth disease.

Background: Functional ankle instability (FAI) is commonly reported by children and adolescents with Charcot-Marie-Tooth disease (CMT), however,, the specific variables associated with FAI remain unknown. An improved understanding of these variables may suggest interventions to improve ankle stability and possibly prevent the long-term complications associated with ankle instability in this population. The aim of this study was to therefore investigate the relationship between FAI and other functional, structural, anthropometric and demographic characteristics in a cross sectional sample of children and adolescents with CMT.

Muscle weakness in children with neurofibromatosis type 1.

Aim: To investigate if children with neurofibromatosis type 1 (NF1) have reduced muscle strength compared with children with typical development.

Method: Maximal isometric strength of 15 upper and lower limb muscle groups was evaluated in 30 children with NF1 (16 males, 14 females; aged 4-16y) and 30 age-, sex-, height-, and weight-matched controls using hand-held dynamometry by a single evaluator. Both the left and right sides were assessed.

Relationship between cognitive dysfunction, gait, and motor impairment in children and adolescents with neurofibromatosis type 1.

Aim: Motor skill impairment and cognitive dysfunction are commonly reported features of neurofibromatosis type 1 (NF1). We characterized and determined the relationship between motor impairment, gait variables, and cognitive function in children and adolescents with NF1.

Method: Motor function, gait, and neurocognitive abilities were assessed in 46 children and adolescents with NF1 (26 males, 20 females; age range 7-17 y; mean age 11 y 1 mo, SD 3 y 2 mo).

Measuring Ankle Instability in Pediatric Charcot-Marie-Tooth Disease.

Children with Charcot-Marie-Tooth disease frequently suffer ankle sprain and experience chronic ankle instability; however, no pediatric self-reported measures of chronic ankle instability exist. The aim was to modify and validate the most reliable measure of chronic ankle instability in adults: the Cumberland Ankle Instability Tool. The Cumberland Ankle Instability Tool-Youth was tested for reliability, construct validity, and sensitivity to discriminate between 104 children aged 8 to 16 years: 31 children with Charcot-Marie-Tooth disease, 31 unaffected children with a history of ankle sprains, and 42 controls.

Randomized trial of botulinum toxin to prevent pes cavus progression in pediatric Charcot-Marie-Tooth disease type 1A.

Pes cavus in Charcot-Marie-Tooth disease type 1A (CMT1A) is thought to be due to muscle imbalance of the lower leg. Botulinum toxin type A (BoNT-A) can modify foot deformity in other conditions of muscle imbalance. We tested the safety and effectiveness of BoNT-A on pes cavus progression in pediatric CMT1A.

Serial night casting increases ankle dorsiflexion range in children and young adults with Charcot-Marie-Tooth disease: a randomised trial.

Question: Does 4 weeks of serial night casting followed by 4 weeks of stretching of the gastrocnemius and soleus improve ankle dorsiflexion range and other outcomes compared with no intervention in children and young adults with Charcot-Marie-Tooth disease?

Design: Randomised trial with concealed allocation, assessor blinding, and intention-to-treat analysis.

Participants: 30 children and young adults with Charcot-Marie-Tooth disease and restricted ankle dorsiflexion range.

Intervention: The experimental group received 4 weeks of serial night casting followed by 4 weeks of weightbearing stretches.

Interventions for increasing ankle range of motion in patients with neuromuscular disease.

Background: Reduced ankle dorsiflexion range of motion, or ankle equinus, is a common and disabling problem for patients with neuromuscular disease. Clinicians devote considerable time and resources implementing interventions to correct this problem although few of these interventions have been subject to rigorous empirical investigation.

Objectives: To assess the effect of interventions to reduce or resolve ankle equinus in people with neuromuscular disease.

Effect of oral curcumin on Déjérine-Sottas disease.

Curcumin is the newest therapeutic agent for ameliorating the clinical and neuropathologic phenotype of a mouse model of Déjérine-Sottas disease. We undertook a 12-month dose-escalation safety trial of oral curcumin in a 15-year-old Caucasian girl with Déjérine-Sottas disease (point mutation, Ser72Leu) complicated by severe weakness, scoliosis, and respiratory impairment. The patient received 50 mg/kg/day oral curcumin for the first 4 months and 75 mg/kg/day thereafter, to complete a 12-month trial.

Factors associated with foot and ankle strength in healthy preschool-age children and age-matched cases of Charcot-Marie-Tooth disease type 1A.

Charcot-Marie-Tooth disease affects foot and ankle strength from the earliest stages of the disease; however, little is known about factors influencing normal strength development or the pathogenesis of foot weakness and deformity in Charcot-Marie-Tooth disease. The authors investigated factors associated with foot and ankle strength in healthy preschool-age children and compared to age-matched cases of Charcot-Marie-Tooth disease type 1A. In healthy children, ankle dorsiflexion range of motion was one of the strongest independent correlates of foot and ankle strength.

Relationship between foot strength and motor function in preschool-age children.

Foot weakness occurs in many paediatric neuromuscular disorders, which overtime can cause considerable functional motor difficulties. Measuring foot strength with hand-held dynamometry is reliable in preschool-age children, but its validity in this age group is unknown. If foot strength measures are collected as endpoints in clinical trials, they should represent functionally meaningful outcomes.

Reliability of quantifying foot and ankle muscle strength in very young children.

Preschool-age children with neuromuscular disorders are often excluded from clinical trials due to the lack of reliable and objective strength measures. We evaluated the reliability of measuring foot and ankle muscle strength in 60 healthy children age 2-4 years. The strength of foot inversion and eversion, ankle plantarflexion, and dorsiflexion was measured using a hand-held dynamometer.