Duchenne Muscular Dystrophy - A Case Study

(https://www.physio-pedia.com/Duchenne_Muscular_Dystrophy_-_A_Case_Study)
Abstract

A fictional case study for an 8 year old boy with Duchenne Muscular Dystrophy (DMD)
during the late ambulatory stage progressing to early non-ambulatory phase is presented.
The purpose of the case study is to provide the reader with the typical presentation of DMD
as well as assessment tools and intervention strategies used during this phase.

The patient presented with bilateral proximal lower extremity weakness and decreased range
of motion. There were concerns with balance and mobility as indicated with specific
outcome measures. Treatment focused on maintaining range of motion, balance, respiratory
training and education about orthotics. As the patient entered the non-ambulatory stage of
the disease there was a loss of ambulation and function.

Introduction

The following is a fictional case study of an 8-year-old boy diagnosed with Duchenne's

Muscular Dystrophy (DMD). In Canada, the disease has a prevalence of 10.3 per 100,000
males. The disease is caused by a mutation in the dystrophin gene that results in an absence
or a decrease in dystrophin within muscle fibers. DMD is a progressive neuromuscular
disease characterized by muscle weakness, associated motor delays, loss of ambulation,
respiratory impairment and cardiomyopathy. Muscle weakness begins in the lower limbs
and affects proximal more than distal muscles. The disease typically progresses through 5
stages: pre-symptomatic, early ambulatory, late ambulatory, early non-ambulatory, and late
non-ambulatory. Diagnosis typically occurs during the early ambulatory stage around age 5
when the initial symptoms are seen including frequent falls, Gower's sign, and trouble with
running and climbing stairs. Loss of ambulation occurs around age 12 and is associated with
a decrease in health-related quality of life (HRQOL) and increase in economic burden .
High-quality multidisciplinary care can slow disease progression, prolong functional
independence and prolong life expectancy. Early detection of the disease, better clinical
practice guidelines and increased ventilator use along with early intervention has improved
the life expectancy of these patients. A study in France showed that the mean life
expectancy increased from 25.77 years for those born between 1955 and 1969 to 40.95 years
for those born between 1970 and 1994.

A multidisciplinary team approach is recommended to provide anticipatory and preventative

care in order to maintain function for as long as possible. Our case study focuses on the
physical therapy assessment and intervention strategies for an 8-year-old boy during the late
ambulation phase as he progresses towards the early non-ambulatory phase. The goal of this
case study is to provide the reader with the typical presentation of DMD during the late
ambulatory phase and recommended assessment tools and intervention strategies during this
phase.
Client characteristics

J.D. is an 8-year-old boy who was diagnosed with DMD when he was 4 years old. J.D.'s
mother took her son to her family doctor, after noticing signs of weakness, clumsiness and
difficulty climbing stairs and he was referred to a neuromuscular specialist. After the
diagnosis of DMD he was referred to us by his neuromuscular specialist and has been
receiving physiotherapy once per week since his diagnosis. He started glucocorticoids when
he was 6 years old. J.D. is in grade 3 and is able to participate fully in school and all
activities that he enjoys. He enjoys building Star Wars Lego sets and playing with them.
J.D. has been doing well and is enthusiastic about his treatment. However, his mother has
indicated that J.D. is falling more often at home, and has received multiple calls from the
school regarding falling during recess and scraping his knee.

Examination findings

Subjective

J.D. reports that he is falling during recess more often. He says that this often happens while
playing tag with his friends. He is often sent to the office by the recess monitor. He
expresses frustration and embarrassment of being injured in front of his friends. Because of
this, he fears that he will not be asked to play and will be left out. His mother reports that
she has started to notice that it is taking J.D. longer to walk up and down the stairs of their
house. She also notes that when they are walking the family dog, J.D. gets tired about
halfway through their walk and wants to turn back to go home.

The PedsQL which represents the child's and parent's perception of the impact of the disease
on their own functioning and well-being was performed for J.D. The greatest concern from
these measures is the low ratings reported by both the parent and child in the physical and
social functioning scales. The parent also self-reported concern about her son's
communication issues as well as concerns about their family resources. In both measures,
the mother has reported lower scores. This could indicate that J.D. is not aware of his
physical limitations, however, his mother is able to see that he is at a lower functional level
than his peers.

PedsQL 4.0 - Generic Core Scales

Scale Parent Proxy-Report Child Self-Report

Total 61% 70%

Physical Functioning 50% 56%

Emotional Functioning 70% 80%

 Social Functioning 60% 75%

School Functioning 70% 75%

PedsQL 3.0 - Neuromuscular Model

Scale Parent Proxy-Report Child Self-Report

Total 70% 80%

About My Neuromuscular 72% 81%

Disorder

Communication 67% 75%

About our Family 65% 80%

Resources
The Faces Pain Scale was used to monitor J.D.'s perceived level of pain. We asked J.D. to
rate his pain currently, over the past 24 hours, and after playing outside during recess. The
results indicated an increased level of pain with increased levels of activity.

Faces Pain Scale-Revised (FPS-R)

 Current = 2/10
 After playing during recess = 6/10
 Over the past day = 4/10

Objective

To avoid fatigue of the patient, objective measures were collected over 3 separate
appointments. 

Muscle strength and joint range of motion (ROM) was quantified for each major muscle
group using the isometric break test and active range of motion. The results showed
generalized muscle weakness affecting the lower limbs bilaterally, with some weakness
starting to develop in the upper limbs. Joint range of motion was good for most movements
except for ankle dorsiflexion and the 90-90 SLR. Gower's sign was positive. 
Posture and balance analysis was conducted in sitting and standing. On observation in
standing, a hyper-lordotic curve was evident in the lumbar spine accompanied with an
anterior pelvic tilt and a wide base of support. The patients' heels occasionally came off the
ground when standing, which indicated that his center of mass was shifted anteriorly . The
hyper-lordotic curve disappeared in sitting and was replaced with an obvious increased
thoracic kyphosis. The patient had bilateral thick calf muscles as well as winging and
anterior tilting of both scapulae. 

The patient was able to sit without handheld support. When moving outside of his base of
support, the patient experienced the most difficulty when moving anteriorly. The patient was
able to accept mild external perturbations but needed to put a hand down when moderate
forces were applied. In standing the patient needed to take a step when shifting his weight
anteriorly. When shifting laterally, the contralateral foot lifted off the ground however was
able to recover. A step was required when mild external perturbations were applied in all
directions when standing. 

During gait analysis, J.D. walked with a wide base of support and in-toeing was evident
during the stance phase. During initial contact, there was a decreased heel strike with more
weight being placed on the midfoot. A bilateral trendelenburg gait was seen which made it
look like he was waddling when walking. J.D also had an increased arm swing with the arms
coming in front of the body. As J.D. was asked to walk faster, he walked on his toes and had
difficulty walking in a straight line.

The North Star Ambulatory Assessment (NSAA), and Six Minute Walk Test (6MWT) were

used to assess the mobility of the patient.

The NSAA measures gross motor ability (i.e. getting up from the ground) and is a highly
reliable tool. J.D scored 22/34 on the NSAA. The items that were most challenging for him
included getting up from the ground, standing on one leg and jumping. Treatment with
glucocorticoids has been shown to increase NSAA scores by an average of 1.3 points until
age 7. After the age of 7, an average decline of 4 points is seen on the NSAA. A score of 9
or less has been associated with greater functional decline in ambulation over the following
year.  J.D scored 22 out of 34.

The 6MWT is highly reliable, feasible and sensitive in detecting a change in children who
are declining with ambulation. This tool, measuring ambulatory function, can be affected by
biomechanics inefficiencies, decreased endurance and decreased lower extremity strength.
The average change in distance over 1 year is -53.67. A score below the threshold
of 325m places the individual at higher risk of ambulatory decline in the following
year. J.D. walked a distance of 369 meters during his test.

The Motor Function Measure (MFM) is a tool that can be used for most neuromuscular
conditions and is applicable to all degrees of severity in ambulant and non-ambulant
patients. The MFM contains 32 items divided into 3 domains. J.D. scored lowest in the
standing and transfers domain and scored highest in the distal limb motor function domain.
This was to be expected as DMD typically affects the proximal lower limb muscles before
progressing to the upper extremities and distal muscles. It can be predicted that a patient
will lose the ability to walk within a year when the standing and transfer score is less than
40% or the total score is less than 70%. J.D.'s current scores are above these values. These
scores should be monitored during reassessment to predict when the loss of ambulation will
occur.  

A detailed reassessment should be done every 6 months to monitor for any significant
changes. 

All results of the objective examination can be seen below:

Neurological Examination

 Reflex Testing
 L3 and S1/S2 = Grade 1
 Muscle Tone
 Palpation of quadriceps and hamstrings reveals decreased muscle tone
 No other neurological findings

Manual Muscle Testing and Range of Motion:

Joint Movement Grade ROM

Shoulder Flexion 4+ 180°

Shoulder Abduction 4+ 172°

Shoulder Extension 5 47°

Elbow Flexion 5 143°

Elbow Extension 4+ 0°

Middle Trapezius 4+ N/A

Upper Trapezius 4+ N/A

Hip Flexion 5 117°

 Hip Abduction 4 28°

Hip Adduction 3+ 10°

Hip Extension 3+ 10°

Knee Flexion 4+ 127°

Knee Extension 3+ 0°

Hamstring 90-90 N/A 150°

SLR

Ankle Dorsiflexion 3 7°

Ankle Plantarflexion 4 50°

Postural Analysis

 Standing: Hyper-lordotic curve in the lumbar spine, anterior pelvic tilt, weight is
shifted forward. Bilateral thick calf muscles, winging and anterior tipping of scapulae.
 Sitting: Hyper-lordotic curve disappears when sitting. The Patient sits with increased
thoracic kyphosis.

Gait Analysis

 A wide base of support, decreased heel strike, decreased stride length, 'waddling'
type of gait, increased arm swing, in-toeing, bilateral Trendelenburg Gait

Motor Function Measure

Scale Score

Total Score 79/96 = 82%

D1: Standing and Transfers 30/39 = 77%

D2: Axial and Proximal Limb Motor 29/36 = 80%

Function
 D3: Distal Limb Motor Function 20/21 = 95%
Clinical Impression

Physical Therapy Diagnosis

8-year-old boy presented to physical therapy with a diagnosis of Duchenne Muscular

Dystrophy showing weakness and decrease in range of motion in lower extremities. The
Patient is experiencing an increase in falls during activities and challenges with balance and
mobility. The Patient is at risk of decreased participation during school activities. He has a
good social support system with teachers and family. The Patient is a good candidate for
physical therapy with goals of slowing the progression of muscle weakness, joint range of
motion limitations and maintaining independence.

Problem List

 Exhibits primarily lower extremity weakness.

 Decreased range of motion in dorsiflexion, hip extension, hip adduction, and knee
extension. At risk of developing contracture.
 Increasing difficulty with walking and balance, at risk of falls.
 Decreased walking endurance and trouble climbing stairs and getting up off the floor.
 Potential for decreased participation with peers and possible loss of motivation.

Intervention

Patient-centered goals were set based on the impairments presented by the child.

Patient-Centered Goals

Long Term Goals

 Maintain bilateral 90-90 SLR ROM at 150° at the 6-month reassessment as measured
by a goniometer
 Improve bilateral ankle dorsiflexion ROM to 0° at the 6-month reassessment as
measured by a goniometer
 Improve bilateral ankle dorsiflexion muscle strength to 3+ at the 6-month
reassessment as measured by isometric break testing
  Maintain NSAA score at 22/34 at the 6 month reassessment to continue his
instrumental activities of daily living
 Maintain MFM Domain 1 score above 60% one year from now
 Increase feelings of inclusion and confidence when playing with friends during
recess by increasing the Social Functioning scale on the PedsQL 4.0 - Generic Core
Scales to 85% within 6 months

Short Term Goals

 Within one month of treatment reduce the number of self-reported falls during recess
from 3+ to 2 falls per week.
 Maintain MFM domain 1 score above 70% by the 6 month reassessment
 Prevent increased limitations in bilateral dorsiflexion and 90-90 Straight Leg Raise
ROM as measured by a goniometer within the first month of treatment
 Increase feelings of inclusion and confidence when playing with friends during
recess by increasing the Social Functioning scale on the PedsQL 4.0 - Generic Core
Scales from 75% to 80% within 1 month

Management Program

In clinic therapy sessions will be completed once per week. A home exercise program will
be included for the patient to complete. The focus of treatment will be on stretching, balance
and mobility along with respiratory exercises. The parents will also be advised about the
orthotics that can aid J.D.

Stretching

During the ambulatory phase, the focus will be on the preventive stretching of the lower
extremities [16], to avoid contractures and maintain joint integrity; and as the disease
progress, the focus will shift to emphasize the upper extremities. During treatment sessions
limitations in range of motion will be monitored in other joints.

 Done actively at least 4 times per week as part of his home exercise program
 The focus is placed on stretching his ankle dorsiflexion, knee extensors, and
flexors, and well as hip flexors and extensors.
 When done by the therapist, manual therapy including PNF stretching, joint
mobilizations and myofascial release techniques may be added

Muscle group Stretch Sets Reps Intensity

Ankle Knee to wall 3 times per 3 reps, 20-second Light pull/ mild
plantarflexors day hold discomfort

Knee extensors Side-lying quad stretch 3 times per 3 reps, 20-second Light pull/ mild
day hold discomfort

Knee flexors Seated hamstring 3 times per 3 reps, 20-second Light pull/ mild
stretch day hold discomfort

Hip flexors Half-kneeling/couch 3 times per 3 reps, 20-second Light pull/ mild
stretch day hold discomfort

Hip extensor Knee to opposite 3 times per 3 reps, 20-second Light pull/ mild
shoulder day hold discomfort

Balance

Balance exercises will focus on standing static and dynamic balance. The patient will
participate in a variety of static balance drills in unilateral and bilateral stances, as well as
encompass dynamic walking drill to address functional activities.

We will focus on his balance training during his weekly sessions at the clinic. Balance
exercises will also be included in his home exercise plan to be done on a daily basis.
Exercises may include agility drills including change in direction and changes in cadence of
gait to mimic the flow of a game of tag. We will also include walking exercises with object
manipulation to replicate him playing with his Star Wars Lego sets.

For J.D's home exercise balance program, we will include: Romberg Test with eyes open
and closed in both unilateral and bilateral stances. He will aim to hold these stances for 20
seconds, and he or his parents will be recording his attempts, including the number of times
he lost balance or opened his eyes. This will provide a method of tracking his progress
towards his goal of reducing the number of falls.

Respiratory Training

The patient will begin inspiratory muscle training as well as deep diaphragmatic breathing
techniques. As the disease progresses, J.D. will experience weakness of his respiratory
musculature, resulting in an increased risk of lung infection and functional decline. We will
begin training these muscles now, in an attempt to maintain his respiratory function and
prevent decreases in total lung volume as well as forced vital capacity. Particular attention
will be given to maintaining chest wall mobility in an effort to prevent the onset of scoliosis.
The use of early respiratory training has been found to prolong the quality of life and
decrease respiratory complications later in life.

Introduction of gentle, low intensity and impact aerobic exercise with assistance will be
recommended. Settings from which this may be achieved include cycling, pool exercises
and swimming. Discussions will be had with his mother to monitor J.D's activity level
during recess and other physical activities and to be wary of potential falls. It will be
encouraged that J.D.'s mother relays this information to his teachers to monitor this during
school hours. This may include a minutes limitation of certain activities in Phys Ed as well
as to be monitored while on the playground. All members involved will be educated on the
possibility that J.D may have decreased exercise capacity despite his level of functioning.

Orthotics

We have discussed the potential use of Knee-ankle-foot orthotics with J.D.'s mother as a
treatment path that can be taken if they choose. It will help prolong the ambulatory period
for J.D. as well as reduce the progression of contracture development and will support
weight-bearing with the increase in muscular weakness. The conversation was also directed
around the use of walkers and wheelchairs, as the conditions progress, and J.D. inevitably
loses his ability to walk. The use of standing devices, along with the knee-ankle-foot
orthotics haven been found to prolong ambulation for 2-4 years, depending on the
progression of muscle weakness and balance loss. The use of a walker or manual mobility
device can be useful if there is ever a need for travelling long distances where it will allow
J.D. to take a break or even be pushed. 

There are several Ankle-foot orthotics that can be worn at night to facilitate stretching, as
well as hand/wrist splints that can be used too. The use of them during ambulation is not
recommended as they lead to compensatory movements but should be used at night to aid in
the prevention of contractures, especially in the ankle plantar flexors.

Current Scenario

It has been 4 years since J.D.'s assessment when he was 8 years old. Due to our treatment,
J.D. was able to maintain his activity and participation in school and the activities he enjoys.
Unfortunately, the muscle weakness in his lower limbs has progressed such that J.D. is no
longer able to walk. He is now in the early non-ambulatory stage of the disease. J.D.'s
PedsQL scores have lowered considerably, due to his inability to walk and the impact it is
having on his functional activities. J.D.'s scores on the MFM have lowered as well. It should
be noted that J. D’s score on the distal limb and motor function domain is still relatively
high. This is indicative of the disease affecting mostly the proximal muscles while the distal
muscles in the hands are still being spared. Because of this J.D. is still able to find
enjoyment with his Star Wars lego sets. Because of his decreased mobility the NSAA and
6MWT will no longer be used as an outcome measure as it may not be valid and meaningful
to him anymore.

J.D. has also seen some decreases in his seated balance indicated by his decreased score on
the MFM Domain 2: Axial and Proximal Limb Motor Function. While seated J.D. is only
now only able to accept mild internal perturbations.

Manual muscle testing now reveals greater weakness in the proximal upper limb muscles
scoring 3+ bilaterally in these muscles. Due to manual therapy and a home stretching
program, ROM in the upper extremities has been spared.

Because he is now in the non-ambulatory stage, respiratory function will start to become a
greater concern. J.D. has been referred to a respiratory therapist for pulmonary function
testing. He has also been referred an orthopedic surgeon to monitor for changes in scoliosis
and the need for braces and possible invasive procedures. An occupational therapist has also
been involved in the treatment plan for J.D. They will be recommending home
modifications now that J.D. is non-ambulatory. We will continue to see J.D. for weekly
physical therapy sessions to continue to slow the disease progression. Inter-professional
communication with all those that are involved in his care will be important to ensure we
are providing the best care for J.D.

PedsQL 4.0 - Generic Core Scales

Scale Baseline Current Baseline Child Current Child Self-Report

Parent Proxy Parent Self-Report
Proxy

Total 61% 46% 70% 51%

Physical 50% 25% 56% 34%

Functioning

Emotional 70% 55% 80% 65%

Functioning

Social Functioning 60% 50% 75% 50%

School 70% 65% 75% 65%

Functioning

PedsQL 3.0 - Neuromuscular Model

 Scale Baseline Parent Current Baseline Child Self-Report
Proxy Parent Proxy

Total 70% 52% 80%

About My Neuromuscular 72% 50% 81%

Disorder

Communication 67% 58% 75%

About our Family Resources 65% 55% 80%

Motor Function Measure

Scale Baseline Score Current Score

Total Score 79/96 = 82% 53/96 = 55%

D1: Transfers and Standing 30/39 = 77% 15/39 = 38%

D2: Axial and Proximal Limb 29/36 = 80% 20/36 = 56%

Motor Function

D3: Distal Limb Motor Function 20/21 = 95% 18/21 = 86%

Discussion

The fictional case study presented depicts the assessment and intervention strategies that
were used for an 8-year-old boy who was diagnosed with DMD. Our case study focuses on
the progression from the late ambulatory to an early non-ambulatory stage of the disease.
Our assessment measured body function and structure impairments through a neurological
examination, ROM and manual muscle testing. Limitations in activity were measured
through a gait and balance assessment and objective outcome measures (NSAA, 6MWT,
MFM). Participation restrictions were measured through two PedsQL self-report measures:
the PedsQL 3.0 Neuromuscular Model and PedsQL 4.0 Generic Core Scales, which are
recommended for a comprehensive assessment of children with neuromuscular
disorders. Because of their different perspectives, both the child's self-report and the parent
proxy-report have to be evaluated in each measure.

These assessment tools gave us a comprehensive look into how the disease was affecting
J.D. This allowed us to develop meaningful and functional goals for in order to slow
functional decline. The long-term goals that were developed were aimed at maintaining or
improving outcome measures that were reassessed every 6 months. The interventions that
were used focused on balance, ROM, introduction to respiratory training, and education
about orthotics. As J.D. progressed towards the non-ambulatory phase, his performance on
outcome measures declined and some measures were no longer applicable due to the loss of
his functional mobility. At this stage, referral to other health professionals was needed for
more detailed assessment and other intervention strategies as they would be addressed better
by those professionals. Weekly physical therapy sessions will be continued to slow the
disease progression.

The unexpected challenges when working with patients in this population is dealing with the
progressive nature of the disease. A holistic approach to treatment is needed when dealing
with families of this disease as it can be emotionally draining on them. Ensuring
independence for as long as possible can help increase social well-being and maintain high
levels of overall quality of life for a longer period of time for the patient. Goal setting is an
additional challenge that clinicians face when dealing with this population as it can be
difficult to make goals that improve function and motivate the patient to achieve them. It is
important to work with the patient and family to develop interventions that target
compensation of function that can unveil abilities that the patient and their family may not
have thought were possible given their condition. Health professionals should not settle to
just maintain function but should aim to improve function through various intervention
strategies. Continued monitoring of patient's status is required throughout the condition a
decline in the body's systems may be gradual and may go unnoticed unless frequent
reassessment occurs. When these changes unfold the treatment plan must be adjusted
accordingly and new goals need to be developed. This stresses the importance of using
outcome measures that are able to address changes in function across all stages of the
disease. The MFM is able to accomplish this and should be used in conjunction with other
tools such as the NSAA, 6MWT or Vignos Scale; which may not be applicable to the
different stages and will need to be replaced.

DMD can be a devastating condition to the family, however, improvements in research and
high-quality multidisciplinary care has prolonged life expectancy and can maintain
participation in activities that the patient feels are important for a longer period of time.

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P.R., CRIPE, L., KAUL, A., KINNETT, K., MCDONALD, C. and PANDYA, S.,
2010. Diagnosis and management of Duchenne muscular dystrophy, part 2:
implementation of multidisciplinary care. The Lancet Neurology. , vol. 9, no. 2, pp.
177-189.
17. Jump up ↑ Ishikawa Y, Miura T, Ishikawa Y, et al. Duchenne muscular dystrophy:
survival by cardio-respiratory interventions. Neuromuscul Disord. 2011; 21:47–51.
[PubMed: 21144751] 
18. Jump up ↑ Bach JR, Martinez D. Duchenne muscular dystrophy: continuous
noninvasive ventilatory support prolongs survival. Respir Care. 2011; 56:744–50.
[PubMed: 21333078] 
19. ↑ Jump up to: 19.0 19.1 Bushby K, Finkel R, Birnkrant DJ, et al. for the DMD Care
Considerations Working Group. Diagnosis and management of Duchenne muscular
dystrophy, part 2: implementation of multidisciplinary care. Lancet Neurol. 2010;
9:177–89. [PubMed: 19945914] 
20. ↑ Jump up to:20.0 20.1 Case, Laura E., et al. “Rehabilitation Management of the Patient With
Duchenne Muscular Dystrophy.” American Academy of Pediatrics, American
Academy of Pediatrics, 2018,
pediatrics.aappublications.org/content/142/Supplement_2/S17.
21. ↑ Jump up to:21.0 21.1 Davis SE, Hynan LS, Limbers CA, Andersen CM, Greene MC, Varni
JW, et al. The PedsQL in pediatric patients with Duchenne muscular dystrophy:
feasibility, reliability, and validity of the Pediatric Quality of Life Inventory
Neuromuscular Module and Generic Core Scales. Journal of clinical neuromuscular
disease. 2010;11(3):97-109.