Collaborative Therapist-Patient Decision Making: A Power-Based Exercise Program for an Adolescent With CMT1A : Pediatric Physical Therapy

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Collaborative Therapist-Patient Decision Making: A Power-Based Exercise Program for an Adolescent With CMT1A

Hedgecock, James B. PT, DPT, PCS; Kelley, Carolyn PT, DPT, PCS; Jensen, Allison; Rapport, Mary Jane PT, DPT, PhD, FAPTA

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Pediatric Physical Therapy 35(1):p 101-107, January 2023. | DOI: 10.1097/PEP.0000000000000972
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Charcot Marie Tooth disease (CMT), an inherited peripheral neuropathy, is a group with diverse genetic and phenotype presentations, with CMT1A being the most common subtype.1 CMT1A is characterized by slowly progressive motor and sensory deficits occurring predominantly distal to proximal. People with CMT1A have a variety of clinical features including foot deformity, weakness, pain, cramps, and instability.2 These impairments progressively impact mobility and quality of life. Foot and ankle weakness are closely related to problems with motor function, including walking ability, climbing stairs, injuries from trips and falls, and reduced quality of life.3–5 In addition, muscle groups not commonly associated with primary neuropathy are also linked to walking.2,4,5 Dorsiflexion and plantar flexion strength and flexibility are identified as the most significant predictors of poor motor function in children with CMT1A, and successful intervention related to these impairments may prevent long-term disability in children with CMT1A.2

Muscle structural alterations specific to CMT1A are known to impact function and respond differentially to selected training parameters. Muscle biopsy studies of untrained adults with CMT1A have shown predominance of atrophic type II, fast-twitch muscle fibers in the vastus lateralis and tibialis anterior muscle groups and hypertrophic type I, slow-twitch fiber types.6,7 Muscle structure plasticity has been demonstrated in people with CMT1A consistent with training stimulus including slow twitch muscle fiber hypertrophy and no change or atrophy of fast twitch fiber type in investigations using endurance or strength-based progressive resistance exercise (PRE) dosing.2,6,8–11 Muscular endurance or hypertrophy-focused PRE programs have been the primary emphasis for CMT-based PRE investigations.2,6 This type of PRE dosing may not result in the requisite muscular structure changes (eg, hypertrophy of type II muscle fibers or increased number of sarcomeres in series) often associated with improved functional movement capacity including walking.12

Dosing parameters for PRE programs must be specific to the muscle structure and performance requirements for a targeted task in order to alter task performance.12,13 For instance, running and jumping require moderate to high levels of force production at fast contraction speeds and are power-based activities. Power-based PRE dosing may be indicated in lower extremity antigravity extensors to alter performance of these tasks. Alternative PRE dosing may be unlikely to achieve the time-dependent force production requirements for measurable functional change.12,13 Investigations examining effects of PRE or interval training using endurance or strength-based dosing for people with CMT have found increases in muscular strength or slowed weakness progression but were associated with no or small changes in functional performance.2,6,9,11,14,15 Training stimuli must be selected specifically to achieve targeted tissue structure and function alterations required for patient goal performance changes.12,13 The impacts of improved strength on function, mobility, and balance for people with CMT1A are yet to be reported in the literature.15

Power-based PRE programs improve strength and function in children and adolescents with other neuromuscular diagnoses, specifically cerebral palsy.12 There is an increased focus in evaluating child participation as the starting point to guide physical therapy (PT) services. This focus assumes that physical therapists will have insight into the lived experience of the child and design interventions with a focus on child and family empowerment. One model to achieve these objectives is the F-Words of Childhood Development, which encourages clinicians to challenge traditional views of disability frameworks, and it will be used throughout this case report.16 In addition, incorporation of participant voice into medical literature has also been thought to facilitate clinician understanding of care choices and may allow improved translation of the evidence.17 There are limited examples of case reports within the pediatric PT literature that specifically combine the perspectives of the participant (as the patient) in describing his or her episode of care.

The purposes of this case report are to

  1. demonstrate the effect of a PT episode of care using a targeted, power-based PRE program in combination with interval and balance training to address individual participant goals for an adolescent with CMT1A; and
  2. incorporate the perspectives and experiences of the participant directly into the intervention and into a case report to contextualize the PT episode of care through the participant's lived experience.


A.J. was the participant in this episode of PT and contributes to this case report by expressing the voice of the person with the lived experience. A.J. enjoys being physically active, is highly engaged with her friends and family, and participates in several community and school activities.

My name is AJ and I am a 15-year-old female with CMT1A. In my daily life, I struggle with balancing and running at the same levels as my peers. It has made participating in PE classes and pick-up games or runs with friends and family hard for me, as I consistently fall behind my peers and feel excluded. Additionally, I enjoy acting and theater and want to be able to participate in school and community musical productions. However, CMT makes dancing harder for me, and in particular, I do not have the balancing ability to successfully complete many turns, jumps, and moves required of me to perform in these shows. I was motivated to complete a new episode of PT to improve my ability to run in PE class, play sports with friends, and dance in theater productions. I had completed previous episodes of PT prior to this, however, gains made were often short-lived and underscored by frustration and overcommitting to a home program that I could not complete. I wanted to do another round of PT to regain these improvements that I had lost and attempt a home program that would be more sustainable and tailored to my needs.

A.J. completed an outpatient PT assessment on referral from a specialized CMT clinic within the same pediatric hospital–based system. Her priorities for this episode of care included targeted goals of improving, running, jumping, and balance. Specific goals are shown in Table 1. Clinical outcome measures were selected to ensure safety and efficacy of the therapy program. A collaborative decision was made to focus on meeting these goals through the combined approach of (1) power-based PRE and interval running program, (2) a home-based balance program; and (3) a guided community-based running program was designed by A.J., her parents, and the physical therapist who was treating.

TABLE 1 - Outcome Measure Pre- and Postinterventiona
Outcome Measure F-Word Domain Preintervention Power Phase Initiation Postintervention MDC95 ≥MDC95 Change
Patient-Specific Functional Scale
Being able to stand on 1 foot on the front of my foot Function, Fun, Friends 2 4 2 Yes
Being able to stand on 1 foot for my dance class Function, Fun, Friends, Fitness 5 10 2 Yes
Being able to run for 5-10 min without taking a break Fun, Friends, Fitness 1 8 2 Yes
Average score 2.67 7.33 1 Yes
Muscle Power Sprint Test Fitness 104.3 W 117.26 W 16.8 Wb No
6-Minute Walk Test Fitness, Future
Distance 566.01 m 700.6 m 12 mb Yes
RHR 90 bpm 80 bpm
EHR 89 bpm 104 bpm
3-min RPE 7 4
6-min RPE 7 6
Balance Function, Fun, Fitness
Single Leg Stance Test 21.32 s 46.1 s 27.6 sb No
Tandem Stance, Feet Apart 11.65 s 48 s
1RM Function, Fitness
Left single heel raise 109.1lb 125 lb 235.55 lb
Right single heel raise 109.1 lb 134 lb 268.93 lb
Left side-lying leg press 158.83 lb 137 lb 171.5 lb
Right side-lying leg press 118.59 lb 140 lb 140.5 lb
CMTPeds subsections Fun, Friends, Function
CMTPeds balance Z score −3.059 −3.03
CMTPeds balance score 3 3 1 No
Long jump distance 80 cm 87.25 cm
Long jump distance Z score −2.218 −1.75
CMTPeds long jump score 2 1 1 Yes
Abbreviations: CMTPeds, CMT Pediatric Scale; EHR, ending heart rate; MDC95, minimal detectable change, 95% confidence interval; 1RM, 1-repetition maximum; RHR, resting heart rate; RPE, rating of perceived exertion.
aShaded cells indicate data does not exist at that time point.
bMDC95 for children without disability.

Clinical findings are shown in Table 2. Notably, A.J. presented with gluteal, plantar flexor, ankle evertor, and dorsiflexor muscular weakness that negatively impacted A.J.'s abilities to run, hop, and walk, and to maintain postural control with a narrow base of support. A.J. additionally presented with limited passive and active ankle dorsiflexion range of motion and distal impairment of lower extremity somatosensation causing increased reliance on vision for postural control. She had a flexible cavovarus foot posture that was accommodated by an in-shoe orthotic. She had decreased ability to perform standing long jump compared with other children with CMT. She additionally had limited endurance and decreased self-reported capability to run or dance for recreational, athletic, and associated school activities with her peers, which was associated with reduced quality of life related to her foot and ankle function.

TABLE 2 - Clinical Examination Findings
General Item Assessment Measure/Movement Observed Factor Assessed Score
Foot posture Foot Posture Index Weight-bearing foot posture Left = −5 (highly supinated), right = −1 (supinated)
Range of motion Goniometry Lower extremity range of motion Passive ankle dorsiflexion (knee extended): Left = 5°, right = 0°
Strength Manual Muscle Testing (standard position) Lower extremity strength 4/5 bilateral gluteus medii, hip external rotators, glutei maximi, ankle dorsiflexors
Heel Raise Test Plantar Flexor Strength 4/5 (between 10 and 20 heel raises, unilaterally)
Balance Single Leg Stance Test Unilateral balance 21.32 s, best effort on dominant leg
Tandem Stance, Feet Apart Narrow base balance 11.65 s, best effort with dominant leg posterior
Modified Clinical Test of Sensory Integration of Balance Somatosensory, Visual, and Vestibular Performance in Balance Total time = 110 s; foam/eyes closed = 10 s
Functional Movement Observation Single Leg Stance on Forefoot Postural control 1.72 s; knee hyperextension and anterior trunk displacement, elevated leg extended, and notable postural sway limiting time in position
Short Course Running, Jog Initial contact and stance completed on forefoot and reduced knee extension; increased step width and maintained plantar flexed position in stance resulting in limited shock absorption, reduced terminal stance posture achieved, and swing achieved with excessive hip flexion; general movement noted for excessive superior center of mass displacement and difficulty stopping quickly on command
Quality of life Oxford Foot and Ankle Questionnaire Well-being for children impacted by foot and ankle conditions Physical = 66.7%, school and play = 81.25%; emotional = 68.75%; total = 71%

Description of Intervention

A.J. followed a PT intervention program consisting of a power-based PRE and interval treadmill walking/running program twice a week in 60-minute sessions for 12 weeks. The intervention plan is summarized in Table 3. National Strength and Conditioning Association recommendations and an institution-specific PRE guideline adapted for children with neuromuscular disabilities were applied to improve the capacity and performance of key muscles to support A.J.'s goals of running recreationally and jumping and balance for participation in her dance troupe.13 Fatigue, muscle cramping, and pain were monitored to minimize risk of exercise-induced muscle damage.15 Posture and joint alignment were optimized during exercise with verbal cueing and orthotics.

TABLE 3 - Intervention Dosing and Progression
Mode Activities Intensity Frequency/Duration Progression
Aerobic Treadmill interval training Warm-up: 15% grade, fast walking speed 6-8 cycles, 2×/wk (last 8 wk) Progress to maintain relative intensity when OMNI <7/10
30 s relative slow, 45 s fast (1-mph difference); starting at fast speed rated OMNI 8/10
Progressive Resistance Exercise Side-lying leg press Introduction phase: ≥75% 1RM, slow concentric/eccentric Introduction phase: 3 sets, 6-8 repetitions/2×/wk Progress to maintain relative intensity when OMNI ≤7/10
Power phase: 60%-80% 1RM, fast concentric/controlled eccentric Power phase: 6 sets, 6 repetitions/2×/wk
Single heel raise Introduction phase: ≥75% 1RM, slow concentric/eccentric Introduction phase: 3 sets, 6-8 repetitions/2×/wk Progress to maintain relative intensity when OMNI ≤7/10
Power phase: 60%-80% 1RM, fast concentric/controlled eccentric Power phase: 6 sets, 6 repetitions/2×/wk
Agility/Balance Hopping, box jumping, ladder drills (forward, backward, lateral, direction alteration) Intensity based on relative daily performance Agility skills 2×/wk for 8 wk/10-15 min Progression based on quality of task performance
Single leg balance with eyes open (with and without head turns vertical and lateral) on firm and compliant surface, double and single leg balance with eyes closed on firm and compliant surface, dynamic single and reduced double leg balance with perturbations Balance: 2×/wk for 4 wk until transition to HEP/10-15 min
Home Program Community running Speed self-determined (“run how it feels fun and challenging”), 1-2 miles 2×/wk Self-determined
Balance activities 3×/wk, 15 min per session Difficulty progressed as time increased
Lateral band walking Theraband, initial resistance determined on movement quality5-6× in longest hallway at home 2×/wk Resistance increased based on perception of performance and clinical observation
Abbreviations: HEP, home exercise program; OMNI, omnibus; 1RM, 1-repetition maximum.

Progressive Resistance Exercise. A phased PRE program using a power-based training protocol was implemented and focused on bilateral, isolated plantar flexors and combined hip and knee extensor musculature due to difficulty with power production for running and walking. A.J.'s 1-repetition maximum (1RM) for unilateral heel press and unilateral side-lying leg press were estimated bilaterally using an estimation formula.18 Progressive resistance exercise training consisted of an introductory strength-based and power-based periods based on exercise dosing recommendations previously published for people with CMT and institutional guideline (Table 3).2 Introductory intensity progressed to 90% 1RM and surpassed estimated 1RM within 2 training sessions despite A.J.'s reported exercise intensity grading using OMNI19 pediatric rating of perceived exertion (RPE) at 9/10 and ability to perform the full training volume without repetition failure during this phase. The 1RM estimation was repeated for the same exercises at PRE period alteration to power-based dosing due to high-level training success during introduction phase and specific muscle performance requirements of A.J.'s goals. Intensity and training volume was progressed on the basis of A.J.'s RPE and repetition failure performance. Progressive resistance exercise was conducted in a circuit training format to challenge cardiovascular performance and allow relative rest periods for targeted musculature per guideline recommendation.

Interval Training. A treadmill-based interval program was performed within each session to induce cardiovascular and lower extremity muscular adaptations with the initial target to achieve A.J.'s goal of routinely running 1 to 2 miles. Interval training parameters were based on National Strength and Conditioning Association guidelines and consisted of 45-second periods of “fast” condition and 30 seconds of “slow” condition treadmill walking/running for 6 to 8 cycles at 0% grade.13 Speed was progressed on the basis of A.J.'s performance and modified RPE rating. Initial speeds used for fast/slow training were determined by A.J.'s RPE rating of 8/10 OMNI RPE rating and greater (Table 3).

Home Exercise Program. A.J. completed home programming focused on pelvic girdle strengthening, balance, and initiating community-based running on days she was not participating in clinic-based sessions (Table 3). Pelvic stability exercises targeted proximal postural control and muscular strength. A.J.'s balance program used graded practice challenging vestibular and visual feedback to compensate for decreased somatosensation. The program was initially performed in the clinic to determine effectiveness and assess capability for correct performance and progress activities before transitioning to a home program. Balance activities were performed using narrow bases of bilateral support with vision reduced, distracted, or eliminated and progressed to unilateral support with vision reduced, distracted, or eliminated and reduced base of support with functional movement repetition to challenge somatosensory, vestibular, and visual components of postural control. A.J. also completed community-based walking/running 1 to 2 times per week based on her personal goal of running 1 to 2 miles, 2 times per week. She was encouraged to run as much of the distance as possible and progress speed and distance as determined by personal comfort.

I felt that this plan was more considerate of my goals and that I was more involved in the decision-making than previous rounds of PT. Here, I felt that I was the driving force, and the PT exercises were centered around my needs, rather than the physical therapist comparing me to a standard and leading me through exercises to meet their goals. Because of this, I felt more motivated and empowered to complete the demands of PT to the best of my ability because I had chosen this plan in order to meet my goals.

Description of Outcomes

A variety of outcome measures were used to measure response to intervention in A.J.'s episode of care. Pre- and postintervention scores along with available minimal detectable change and summary by domain of F-Word of Childhood Development are reported in Table 1.16 Each outcome measure was completed prior to initiation of A.J.'s episode of care and immediately following cessation except the subtests of the CMT Pediatric Scale (CMTPeds). The CMTPeds outcomes were collected during semiannual visits to the specialty CMT clinic.

The Patient-Specific Functional Scale is a rating scale of perceived performance of self-selected functions or participation-related goals.20 The Patient-Specific Functional Scale was completed during initial evaluation and at the end of the episode of care. A.J.'s goals focused on improving balance for dance class and improving running endurance and demonstrated clinically significant improvements over the intervention period. Functional balance assessment was completed using the Single Leg Stance Test21 and tandem stance for time. A.J. increased times for both tests by 116% to 312%, respectively. The 6-Minute Walk Test is a norm-referenced assessment of cardiovascular endurance with established validity and reliability for children and adolescents and has been described for populations with CMT.22,23 Total distance covered in 6 minutes, pre– and post–heart rate, and modified Borg RPE at 3 and 6 minutes were measured. A.J. increased 6-Minute Walk Test distance by 26% with reduced RPE, demonstrating reduced fatigue perception with clinically significant increase in distance walked and endurance.

The 1RM estimation testing was completed prior to intervention, at the end of the PRE orientation period and at the end of power-based PRE programming using an estimation formula.13,18,24 A.J. had 8% to 146% increases in estimated 1RM for selected exercises. The Muscle Power Sprint Test is a reliable, valid, and normed measure of lower extremity anaerobic power generation for 6- to 18-year-olds.25 A.J. increased average lower extremity power generation by 12%, but this increase did not meet levels of clinical significance calculated for “healthy” children.

The CMTPeds is a global measure of disability for children aged 3 to 20 years with a variety of CMT subtypes.22 A.J. completed CMTPeds assessment at semiannual specialty clinic visits. Average disease progression as measured by total CMTPeds score is 1.8-point increase in a 2-year period based on aggregated scores for all types of CMT.3 Balance and long jump CMTPeds subtests are reported and demonstrate maintained balance performance and increased long jump distance, which were unexpected, given progression expectations.

Changes in performance can be described best in the A.J.'s voice:

After this round of PT, I was able to participate more in dance classes and go on runs for a sustained amount of time with family and friends without feeling tired after a few minutes. After previous rounds of PT, I felt like I was finally ‘fixed,’ and I had to keep doing my exercises or else I would be ‘broken’ again, which was frustrating and disempowering. However, due to the personally meaningful goals we set in this round of PT, I felt like I had control over my CMT, and I had the power to accomplish my physical goals, despite my limitations. This resulted in me seeing more visible impacts during this round of PT care in my daily life and having greater motivation and adherence to my home program during and after this PT round motivated me. It worked.


This case report describes an episode of goal-directed PT for an adolescent with CMT1A using a power-based PRE program targeted at key muscles for A.J.'s functional goals in addition to balance training and cardiovascular training. The case report is informed with the perspective of the person with lived experience that guided clinical decision making and enabled a more meaningful treatment outcome toward meeting goals.

Program design using goal-specific, power-based PRE dosing combined with balance and cardiovascular endurance training resulted in A.J. achieving her fitness, fun, function, and friends-related goals. “I felt my ability to jump, balance, and run improve significantly, increasing my ability to participate.” Research demonstrating the effect of PRE for people with CMT has primarily targeted musculature known to be specifically impacted by CMT disease processes that may not reflect muscular performance requirements for typical function.2 Previous research for young people with cerebral palsy has demonstrated similar themes,12 and foundational guidance for application of strength and conditioning interventions guides clinicians to be task specific in relation to dosing decisions.13 The intervention in this episode of care used goal-specific design and intervention dosing to alter functional performance that resulted in objectively measurable performance alterations and improved participant experience with PT.

Use of an empowerment-based approach for PT evaluation, assessment, and intervention design positively impacted A.J.'s experience and perception of outcomes.

During this session of PT, I felt more motivated to go, participate fully, and do my home program because it was oriented around my goals. I also felt more satisfaction because I could see myself improving every week due to the intense training.

A.J., her family, and clinical team were able to determine personally important lifestyle changes and their individual meaningfulness to A.J. when starting from a participation-focused viewpoint.

I was able to see visible outcomes from my work in PT in my daily life from using this approach rather than just knowing that preventative work was done, and I was more motivated to exercise when using this approach.

This allowed A.J. and her team flexibility to use disease-specific factors as guidance for, rather than dictating, intervention design and performance.


This case report demonstrates how biomedical management (eg, disease severity monitoring to provide prognostic information) can intersect with a biopsychosocial approach (eg, allowing a person to guide care based on his or her personal circumstances and desires) to develop a holistic plan of care for a person with a childhood disability. Specifically, incorporating A.J.'s perspectives and experiences to inform episode design allowed for higher levels of participation and positively impacted her outcomes. A.J. was able to recognize the value of a more intensive, highly focused, individualized intervention plan targeting her goals.

Other people should not be afraid to push their patients and implement intense training regimens when pursuing sizable improvements. They should expect substantial gains to come from doing intense exercise, gains that I had not seen in any other round PT. Although if the patient is not used to intense exercise like I was, it may be physically and mentally challenging. When implementing this approach, others should encourage the patient throughout the exercise period to keep them motivated and overcome any mental barriers in place.

Clinically significant outcomes in muscular strength, cardiovascular endurance, balance, functional performance, and participation can be achieved using task-specific PRE dosing and conditioning program design. It is clear that participant outcomes benefit when clinicians directly relate PRE and intervention program design to participant goals and individual muscle performance requirements for those objectives.


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Charcot-Marie-Tooth; participant lived experience; power; resistance training

© 2022 Academy of Pediatric Physical Therapy of the American Physical Therapy Association