Joshua Burns

• PhD
• Professor at The University of Sydney

Background and Aims The CMT Infant Scale (CMTInfS) enables evaluation of infants/toddlers in clinic. Our aim was to evaluate the feasibility, reliability, and validity of a virtual version of the CMTInfS (vCMTInfS). Methods Children aged 55 months or less were evaluated either in clinic using CMTInfS or remotely via telemedicine using the vCMTInfS...

Charcot-Marie-Tooth disease type 1E (CMT1E) is a rare, autosomal dominant peripheral neuropathy caused by missense variants, deletions, and truncations within the peripheral myelin protein-22 (PMP22) gene. CMT1E phenotypes vary depending on the specific variant, ranging from mild to severe, and there is little natural history and phenotypic progres...

Objectives The primary objective of this paper was to present the establishment of the Spastic Paraplegia–Centers of Excellence Research Network (SP-CERN) aimed at promoting clinical trial readiness for hereditary spastic paraplegia (HSP). SP-CERN is unique in its approach to addressing the diagnostic and therapeutic challenges associated with HSP...

Objectives Dysregulated RNA alternative splicing is the hallmark of myotonic dystrophy type 1 (DM1). However, the association between RNA mis‐splicing and physical function in children with the most severe form of disease, congenital myotonic dystrophy (CDM), is unknown. Methods Eighty‐two participants (42 adults with DM1 and 40 children with CDM)...

Background and Aims The Charcot–Marie–Tooth Disease Health Index (CMT‐HI) is a disease‐specific, patient‐reported disease burden measure. As part of an international clinical trial readiness study, individuals with CMT1A (ages 18–75 years) underwent clinical outcome assessments (COAs), including the CMT‐HI, to capture their longitudinal perspective...

Background Traditional plaster‐cast fabrication of an ankle‐foot orthosis (AFO), although robust, is time‐consuming and cumbersome. 3D scanning is quickly gaining attention as an alternative to plaster casting the foot and ankle region for AFO fabrication. The aim of this study was to assess the accuracy and speed of two high‐performing 3D scanners...

Objectives Dysregulated RNA alternative splicing is the hallmark of myotonic dystrophy type 1 (DM1). However, the association between RNA mis-splicing and physical function in children with the most severe form of disease, congenital myotonic dystrophy (CDM), is unknown. Methods 82 participants (42 DM1 adults & 40 CDM children) with muscle biopsie...

Purpose: To determine whether short-term wear of textured insoles alters balance, gait, foot sensation, physical activity, or patient-reported outcomes, in people with diabetic neuropathy. Materials and methods: 53 adults with diabetic neuropathy were randomised to wear textured or smooth insoles for 4-weeks. At baseline and post-intervention, b...

Muscle strength is routinely measured in patients with neuromuscular disorders by hand-held dynamometry incorporating a wireless load cell to evaluate disease severity and therapeutic efficacy, with magnitude of effect often based on normative reference values. While several hand-held dynamometers exist, their interchangeability is unknown which li...

Background and Aims Riboflavin transporter deficiency (RTD) is a progressive inherited neuropathy of childhood onset, characterised clinically by pontobulbar palsy, sensory ataxia, sensorineural deafness, muscle weakness, optic atrophy and respiratory failure. A robust and responsive functional outcome measure is essential for future clinical trial...

Background and Objectives Charcot-Marie-Tooth disease type 1A (CMT1A), caused by a duplication of PMP22 , is the most common hereditary peripheral neuropathy. For participants with CMT1A, few clinical trials have been performed; however, multiple therapies have reached an advanced stage of preclinical development. In preparation for imminent clinic...

Patient-reported outcome measures (PROMs) provide structured information on the patient’s health experience and facilitate shared clinical decision-making. Registries that collect PROMs generate essential information about the clinical course and efficacy of interventions. Whilst PROMs are increasingly being used in adult orthopaedic registries, th...

Background and aims: Riboflavin Transporter Deficiency (RTD) is a progressive inherited neuropathy of childhood onset, characterised by pontobulbar palsy, sensorineural deafness, sensory ataxia, muscle weakness, optic atrophy and respiratory failure. Riboflavin supplementation has been shown to be beneficial in short-term reports but the quantum o...

Objective: The study aim was to evaluate the impact of body mass index (BMI) on disease progression over 2-years in children with Charcot-Marie-Tooth disease (CMT). Methods: BMI was classified in 242 participants 3-20 years with CMT enrolled in the Inherited Neuropathy Consortium, using the International Obesity Task Force (based on adult BMI valu...

Charcot-Marie-Tooth disease (CMT) due to GJB1 variants (CMTX1) is the second most common form of CMT. It is an X-linked disorder characterised by progressive sensory and motor neuropathy with males affected more severely than females. Many reported GJB1 variants remain classified as variants of uncertain significance (VUS). In this large, internati...

Objective: To evaluate the parent-proxy version of the pediatric Charcot Marie Tooth specific quality of life (pCMT-QOL) outcome instrument for children aged 7 or younger with CMT. We have previously developed and validated the direct-report pCMT-QOL for children aged 8-18 years and a parent proxy version of the instrument for children 8-18 years...

Recessive SH3TC2 variants cause Charcot-Marie-Tooth disease type 4C (CMT4C). CMT4C is typically a sensorimotor demyelinating polyneuropathy, marked by early onset spinal deformities, but its clinical characteristics and severity are quite variable. Clear relationships between pathogenic variants and the spectrum of disease manifestations are to dat...

Heritable neurological disorders provide insights into disease mechanisms that permit development of novel therapeutic approaches including antisense oligonucleotides, RNA interference, and gene replacement. Many neurogenetic diseases are rare and slowly progressive making it challenging to measure disease progression within short time frames. We s...

Background: 3D scanning of the foot and ankle is gaining popularity as an alternative method to traditional plaster casting to fabricate ankle-foot orthoses (AFOs). However, comparisons between different types of 3D scanners are limited. Objectives: The aim of this study was to evaluate the accuracy and speed of seven 3D scanners to capture foot...

Objective: Charcot-Marie-Tooth disease (CMT) reduces health-related quality of life (QOL) in children. We have previously developed and validated the English and Italian versions of the pediatric CMT-specific QOL outcome measure (pCMT-QOL) for children aged 8-18. There is currently no parent-proxy CMT QOL outcome measure for use in clinical trials...

Background Predicting morphological changes to anatomical structures from 3D shapes such as blood vessels or appearance of the face is a growing interest to clinicians. Machine learning (ML) has had great success driving predictions in 2D, however, methods suitable for 3D shapes are unclear and the use cases unknown. Objective and methods This sys...

Background Idiopathic toe walking (ITW) is an exclusionary diagnosis. There has been limited exploration of lower limb active range of motion and strength measures in children with ITW. This researched aimed to determine any differences in lower limb muscle active range of motion and strength in children who have ITW, compared to normative data col...

With therapeutic trials on the horizon for Charcot-Marie-Tooth type 1A (CMT1A), reliable, valid, and responsive clinical outcome assessments and biomarkers are essential. Accelerate Clinical Trials in CMT (ACT-CMT) is an international study designed to address important gaps in CMT1A clinical trial readiness including the lack of a validated, respo...

Background Children with the most common inherited neuropathy, Charcot-Marie-Tooth disease (CMT), are often prescribed ankle-foot orthoses (AFOs) to improve walking ability and prevent falls by reducing foot drop, postural instability, and other gait impairments. These externally worn assistive devices are traditionally custom-made using thermoplas...

Objective: The aim of this study was to establish reference values for rate of torque development (RTD) and muscle torque steadiness (MTS) of knee extensors across the lifespan, and evaluate if these measures are independently associated with Osteoarthritis Research Society International (OARSI)-recommended performance-based measures (6-minute wal...

Background and objectives Charcot-Marie-Tooth disease (CMT) is the most common inherited neuropathy and often presents during childhood. Guidelines for the optimal management of common problems experienced by individuals with CMT do not exist, for either children or adults. We formed the Paediatric CMT Best Practice Guidelines Consortium to develop...

Introduction and aims: The Charcot-Marie-Tooth Pediatric Scale (CMTPedS) is a validated and change-sensitive tool for assessing the severity of neuropathy in children and adolescents between 3 and 20 years of age. The aim of this article is to translate and validate a Spanish version of the CMTPedS in order to disseminate its use in Spanish-speaki...

Background In the production of ankle-foot orthoses and in-shoe foot orthoses, lower leg morphology is traditionally captured using a plaster cast or foam impression box. Plaster-based processes are a time-consuming and labour-intensive fabrication method. 3D scanning is a promising alternative, however how these new technologies compare with tradi...

Background: Children with neurodevelopmental disorders share common phenotypes, support needs and comorbidities. Such overlap suggests the value of transdiagnostic assessment pathways that contribute to knowledge about research and clinical needs of these children and their families. Despite this, large transdiagnostic data collection networks for...

Ankle–foot orthoses (AFOs) are devices prescribed to improve mobility in people with neuromuscular disorders. Traditionally, AFOs are manually fabricated by an orthotist based on a plaster impression of the lower leg which is modified to correct for impairments. This study aimed to digitally analyse this manual modification process, an important fi...

Objective This study examined the association between body mass index (BMI) and disability in children with Charcot-Marie-Tooth disease (CMT). Methods We conducted a cross-sectional analysis of 477 patients with CMT aged 3-20 years from the Inherited Neuropathy Consortium, and 316 age-and-sex matched healthy children from the 1000 Norms Project. B...

Purpose: To compare the effect of solid (SAFO) and hinged (HAFO) ankle-foot orthoses in children with cerebral palsy spastic diplegia and true equinus and jump gait. Methods: Participants were 26 children (13 wore SAFO and 13 wore HAFO) aged 4 to 14 years classified as Gross Motor Function Classification System levels I to III. Children were tes...

Purpose of review: Rehabilitation for patients with neuromuscular disorders (NMDs) has undisputed health benefits and is potentially therapeutic for targeting impairments, improving quality of life, and enabling activities of daily living. Whilst rehabilitation is commonly prescribed, unequivocal evidence and disease-related guidelines are lacking...

Background Hip dysplasia is a lack of femoral head coverage and disruption of hip and acetabular alignment and congruency, with severity ranging from mild subluxation in nascent at-risk hips to complete dislocation. Presentation of hip dysplasia in neuromuscular conditions can be sub-clinical or associated with a limp with or without hip pain, abdu...

Purpose To provide evidence-based guidance specific to allied health and nursing practice for the assessment and management of individuals with Duchenne muscular dystrophy (DMD). Materials and methods Thirteen key focus areas were identified in consultation with health professionals and consumer advocacy groups. A series of systematic literature r...

Reduced muscle tone, muscle weakness, and physical fatigue can impact considerably on quality of life for children with neurofibromatosis type 1 (NF1). Human muscle biopsies and mouse models of NF1 deficiency in muscle show intramyocellular lipid accumulation, and preclinical data have indicated that L-carnitine supplementation can ameliorate this...

Background/aims High-intensity power training has been shown to be effective in improving muscular capabilities, functional performance and health-related quality of life in populations with physical impairments. However, the effectiveness of high-intensity power training in people with Charcot–Marie–Tooth disease remains uncertain. This case serie...

Introduction/Aims We explored correlates of night-time and exercise-associated lower limb cramps in participants of the 1000 Norms Project. Methods A volunteer community sample of healthy people aged ≥18 years underwent assessment of motor function and physical performance, and were questioned about muscle cramps in the previous 3 months. Results...

Background: The World Health Organization (WHO) recommends that people of all ages take regular and adequate physical activity. If unable to meet the recommendations due to health conditions, international guidance advises being as physically active as possible. Evidence from community interventions of physical activity indicate that people living...

Background: Lower limb muscle cramps are common and painful. They can limit exercise participation, and reduce quality of sleep, and quality of life. Many interventions are available for lower limb cramps; some are controversial or could cause harm, and often, people experience no benefit from the interventions used. This is an update of a Cochran...

Powered wheelchair standing devices (PWSDs) allow supported standing for activity; however, little is known about their use. To understand factors affecting use of supported standing for participation among boys with Duchenne muscular dystrophy (DMD) and characteristics of successful users, we gathered data over 7 days from boys who had used PWSDs...

Aim The primary aim of this study was to determine the association between generalized joint hypermobility (GJH), knee‐specific hypermobility (KSH) and self‐reported knee health in an Australian population. Secondary aims included elucidating ethnic/gender differences in GJH/KSH prevalence and knee health, and identifying KSH using a novel knee ext...

Aim Obesity causes altered gait patterns in typically developing children, but its effect on gait in children with physical disabilities is largely unknown. This study explores associations between body mass index (BMI), functional mobility and gait in children with cerebral palsy (CP). Method An observational cross-sectional study was conducted u...

Mitofusin-2 (MFN2) is one of two ubiquitously expressed homologous proteins in eukaryote cells, playing a critical role in mitochondrial fusion. Mutations in MFN2 (most commonly autosomal dominant) cause Charcot-Marie-Tooth disease type 2A (CMT2A), the commonest axonal form of CMT, with significant allelic heterogeneity. Previous, moderately-sized,...

Objectives The primary aim was to determine the association between sagittal cervical mobility and the presence and extent of GJH across the lifespan. Secondary aims were to determine which features explain variability in cervical range of motion (CROM) and to establish the sagittal cervical hypermobile range in both genders across the lifespan. D...

Introduction/Aims We aim to describe 12‐month functional and motor outcome performance in a cohort of participants with congenital myotonic dystrophy (CDM). Methods CDM participants performed the Six Minute Walk Test (6MWT), 10 Meter Run, 4 Stair Climb, Grip Strength and Lip Force at baseline and 12 month visits. Parents completed the Vineland Ada...

Purpose Longitudinal fibular deficiency (LFD) is the most common congenital long bone deficiency. This study aimed to objectively assess the physical performance of children and adolescents with LFD compared with unaffected peers, and to examine trends over age for subgroups of the LFD population. Methods Differences between children with LFD and...

Introduction: Emerging evidence indicates that rehabilitation can improve ataxia, mobility and independence in everyday activities in individuals with hereditary cerebellar ataxia. However, with the rarity of the genetic ataxias and known recruitment challenges in rehabilitation trials, most studies have been underpowered, non-randomised or non-co...

Objective Charcot–Marie–Tooth disease (CMT) reduces health‐related quality of life (QOL), especially in children. Defining QOL in pediatric CMT can help physicians monitor disease burden clinically and in trials. We identified items pertaining to QOL in children with CMT and conducted validation studies to develop a pediatric CMT‐specific QOL outco...

Background: Foot muscle weakness can produce foot deformity, pain and disability. Toe flexor and foot arch exercises focused on intrinsic foot muscle strength and functional control may mitigate the progression of foot deformity and disability. Ensuring correct exercise technique is challenging due to the specificity of muscle activation required...

Objective To describe the clinical, genetic and disability profile of pediatric distal hereditary motor neuropathy (dHMN) and to determine the utility of an outcome measure validated for children with Charcot-Marie-Tooth disease (CMT) in assessing disability in this cohort. Methods We reviewed the clinical, neurophysiologic, and disability data on...

Background: The evaluation of ankle-foot orthoses is primarily focused on biomechanical performance, with comparatively less studies pertaining to users' quality of life and experiential factors. Objectives: To investigate how child users regard acquisition and use of ankle-foot orthoses through the perspectives of child users, parents/carers an...

The CMT‐FOM is a 13‐item clinical outcome assessment (COA) that measures physical ability in adults with Charcot‐Marie‐Tooth disease (CMT). Test‐retest reliability, internal consistency and convergent validity have been established for the CMT‐FOM. This current study sought to establish inter‐rater reliability. Following an in‐person training of si...

The CMT Pediatric Scale (CMTPedS) is a reliable, valid, and responsive clinical outcome measure of disability in children with CMT. The aim of this study was to identify the most responsive patient subset(s), based on the standardized response mean (SRM), to optimize the CMTPedS as a primary outcome measure for upcoming clinical trials. Analysis wa...

Background The Charcot-Marie-Tooth disease Pediatric Scale (CMTPedS) has been used to measure aspects of disability in children with all types of Charcot-Marie-Tooth disease (CMT). Objective To translate and cross-culturally adapt the CMTPedS into Brazilian–Portuguese and determine its reliability and validity. Methods The translation and cross-c...

Background and Aims The CMT‐FOM is a 13‐item clinical outcome assessment (COA) that measures physical ability in adults with Charcot‐Marie‐Tooth disease (CMT). Test‐retest reliability, internal consistency and convergent validity have been established for the CMT‐FOM. This current study sought to establish inter‐rater reliability. Methods Followin...

Objective To determine rates of psychiatric comorbidity in a clinical sample of childhood movement disorders (MDs). Design Cohort study. Setting Tertiary children’s hospital MD clinics in Sydney, Australia and London, UK. Patients Cases were children with tic MDs (n=158) and non-tic MDs (n=102), including 66 children with dystonia. Comparison wa...

Background and Aims The CMT‐HI is a disease‐specific patient‐reported outcome measure measuring overall disease burden in CMT patients, designed for natural history studies and clinical trials in English‐speaking affected individuals. We developed and validated its Italian version (I‐CMT‐HI). Methods The questionnaire was translated and culturally...

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Background: Congenital talipes equinovarus (CTEV), also known as clubfoot, is a common congenital orthopaedic condition characterised by an excessively turned-in foot (equinovarus) and high medial longitudinal arch (cavus). If left untreated it can result in long-term disability, deformity and pain. Interventions can be conservative (such as splin...

Background and Aims The Charcot‐Marie‐Tooth disease Pediatric Scale (CMTPedS) is a Rasch‐built clinical outcome measure of disease severity. It is valid, reliable and responsive to change for children and adolescents aged 3 to 20 years. The aim of this study was to translate and validate an Italian version of the CMTPedS using a validated framework...

Objectives To establish normative reference values for work ability in healthy Australian adults using the Work Ability Score and investigate the association of physical performance factors. Methods The Work Ability Score was collected from 720 participants aged 18–101 years from the 1000 Norms Project. Physical performance was evaluated by assess...

Objective: To evaluate the sensitivity of Rasch analysis-based, weighted Charcot-Marie-Tooth Neuropathy and Examination Scores (CMTNS-R and CMTES-R) to clinical progression in patients with Charcot-Marie-Tooth disease type 1A (CMT1A). Methods: Patients with CMT1A from 18 sites of the Inherited Neuropathies Consortium were evaluated between 2009...

PURPOSE: Inherited axonopathies (IA) are rare, clinically and genetically heterogeneous diseases that lead to length-dependent degeneration of the long axons in central (hereditary spastic paraplegia [HSP]) and peripheral (Charcot–Marie–Tooth type 2 [CMT2]) nervous systems. Mendelian high-penetrance alleles in over 100 different genes have been sho...

Background Ankle-foot orthoses (AFO) are prescribed to manage difficulty walking due to foot drop, bony foot deformities and poor balance. Traditional AFOs are handmade using thermoplastic vacuum forming which provides limited design options, is labour-intensive and associated with long wait times. 3D printing has the potential to transform AFO pro...

Introduction: The six-minute walk test (6MWT) is a well-established clinical assessment of functional endurance, validated as a measure of walking ability in spinal muscular atrophy (SMA). The current availability of disease-modifying therapies for SMA indicates a growing need for normative reference data to compare SMA patients to healthy control...

The inherited neuropathies are a common and heterogeneous group of slowly progressive disorders affecting motor, sensory, and autonomic nerves. These hereditary conditions can be confined to the peripheral nervous system, termed the primary hereditary neuropathies, or can occur as part of a multisystem disease. Identification of systemic involvemen...

Background: Pedobarography software calculates the centre-of-pressure trajectory in relation to the foot to quantify foot contact patterns. This study presents two new pedobarography measures using the centre-of-pressure trajectory to assess heel rocker. Methods: To validate these pedobarography measures against 3D gait analysis, emed®-x and Vic...

Plantar heel pain is a common musculoskeletal foot disorder that can have a negative impact on activities of daily living and it is of multifactorial etiology. A variety of mechanical factors, which result in excessive load at the plantar fascia insertion, are thought to contribute to the onset of the condition. This review presents the evidence fo...

Introduction Peripheral neuropathy is a major risk factor for falls in adults with diabetes. Innovative footwear devices which artificially manipulate the sensory environment at the feet, such as textured shoe insoles, are emerging as an attractive option to mitigate balance and walking problems in neuropathic populations. This study aims to explor...

Background Disability related to the progressive and degenerative neuropathies known collectively as Charcot-Marie-Tooth disease (CMT) affects gait and function, increasing with age and influencing physical activity in adults with CMT. The relationship between CMT-related disability, ambulatory function and physical activity in children and adolesc...

Objectives This population-based study aimed to determine age-standardised prevalence of Charcot-Marie-Tooth disease (CMT) across the lifespan using multiple case ascertainment sources. Design Point-prevalence epidemiological study in the Auckland Region of New Zealand (NZ). Setting Multiple case ascertainment sources including primary care centr...

Balance Impairment in Pediatric Charcot‐Marie‐Tooth disease Introduction Balance impairment contributes to gait dysfunction, falls and reduced quality of life in adults with Charcot‐Marie‐Tooth disease (CMT), but has been minimally examined in pediatric CMT. Methods The CMT Pediatric Scale (CMTPedS) was administered to 520 children with CMT. Asso...

Charcot-Marie-Tooth disease (CMT) causes disabling cavovarus foot deformity. Orthopaedic surgery is performed in severe cases; however few studies have investigated whether surgery improves health outcomes during childhood. This study investigated the impact of cavovarus surgery on validated physical, functional, parent/self-reported and biomechani...

Longitudinal fibular deficiency (LFD), or fibular hemimelia, is congenital partial or complete absence of the fibula. We aimed to compare the lower limb function of children and young people with LFD to that of unaffected peers. A cross-sectional study of Australian children and young people with LFD, and of unaffected peers, was undertaken. Twenty...

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. Me...

Background Weakness of the intrinsic foot muscles is thought to produce deformity, disability and pain. Assessing intrinsic foot muscles in isolation is a challenge; however ultrasound might provide a solution. The aims of this study were to assess the reproducibility of assessing the size of abductor halluces (AbH) and the medial belly of flexor h...

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 ch...

Introduction Biomarkers of disease severity in Charcot‐Marie‐Tooth disease (CMT) are required to evaluate early responses to treatment. The study aimed to evaluate the relationship between muscle volume and intramuscular fat accumulation by magnetic resonance imaging (MRI) and weakness, disability and impaired gait in affected children and adolesce...

Objective: The purpose of this study was to examine the feasibility, reliability, and convergent validity of the Charcot-Marie-Tooth Functional Outcome Measure (CMT-FOM), a new performance-based measure assessing functional ability in adults with CMT disease. Methods: Adults with CMT type 1A (CMT1A) were recruited at the Universities of Rocheste...

Background: Children with cerebral palsy are at risk of developing muscle contractures, often contributing to pain, structural deformities and mobility limitations. With the increasing use of gait indices to summarise the findings of three dimensional gait analysis (3DGA), the purpose of this study is to determine whether there is a relationship b...

Much has been achieved in terms of understanding the complex clinical and genetic heterogeneity of Charcot-Marie-Tooth neuropathy (CMT). Since the identification of mutations in the first CMT associated gene, PMP22, the technological advancement in molecular genetics and gene technology has allowed scientists to generate diverse animal models expre...

Objective: To report the prevalence of varus thrust and normative values for hip-knee-ankle (HKA) angle deviation across the lifespan, and to explore associations between HKA angle deviation and selected clinical factors. Design: This was a cross-sectional observational study of 572 participants from the 1000 Norms Project, aged 3-101 years and...

Introduction/Background Varus thrust is a gait deviation and a known risk factor for knee osteoarthritis. Prevalence of varus thrust and normative values of stance-phase knee deviation across the lifespan are unknown. The aim of the study was to report prevalence of varus thrust and normative values for hip-knee-ankle (HKA) angle deviation across t...

Thongs may be beneficial for children’s developing feet despite increased ankle dorsiflexion and midfoot plantarflexion seen during walking[1]. Enclosed footwear limits midfoot joint motion and power[2,3]. Ankle and midfoot joint plantarflexion is necessary for the generation of foot and ankle power during the propulsive phase of walking. The splin...

Objective: To describe in detail the clinical profile of Charcot-Marie-Tooth disease subtype 3 (CMTX3) to aid appropriate genetic testing and rehabilitative therapy. Methods: We reviewed the clinical and neurophysiologic profile and CMT Pediatric Scale (CMTPedS) assessments of 11 children with CMTX3. Results: Compared with the more common form...

A functional outcome measure for infants (aged 0-3 years) with Charcot-Marie-Tooth disease (CMT) 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 an...

Background and aims Knowledge of pain characteristics among the healthy population or among people with minimal pain-related disability could hold important insights to inform clinical practice and research. This study investigated pain prevalence among healthy individuals and compared psychosocial and physical characteristics between adults with a...

Childhood-onset muscle disorders are genetically heterogeneous. Diagnostic workup has traditionally included muscle biopsy, protein-based studies of muscle specimens, and candidate gene sequencing. High throughput or massively parallel sequencing is transforming the approach to diagnosis of rare diseases; however, evidence for cost-effectiveness is...