Duchenne Muscular Dystrophy - A Case Study: Difference between revisions
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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. | 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 were used to assess mobility of the patient. The NSAA measures gross motor ability (i.e getting up from the ground) and is a highly reliable tool.<ref>Scott E, Eagle M, Mayhew A, Freeman J, Main M, Sheehan J, Manzur A, Muntoni F, North Star Clinical Network for Paediatric Neuromuscular Disease. [https://www.ncbi.nlm.nih.gov/pubmed/21954141 Development of a functional assessment scale for ambulatory boys with Duchenne muscular dystrophy]. Physiotherapy Research International. 2012 Jun;17(2):101-9.</ref> | The North Star Ambulatory Assessment (NSAA), and Six Minute Walk Test were used to assess mobility of the patient. The NSAA measures gross motor ability (i.e getting up from the ground) and is a highly reliable tool.<ref>Scott E, Eagle M, Mayhew A, Freeman J, Main M, Sheehan J, Manzur A, Muntoni F, North Star Clinical Network for Paediatric Neuromuscular Disease. [https://www.ncbi.nlm.nih.gov/pubmed/21954141 Development of a functional assessment scale for ambulatory boys with Duchenne muscular dystrophy]. Physiotherapy Research International. 2012 Jun;17(2):101-9.</ref> 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.<ref name=":4">Ricotti V, Ridout DA, Pane M, Main M, Mayhew A, Mercuri E, Manzur AY, Muntoni F. T[https://www.ncbi.nlm.nih.gov/pubmed/25733532 he NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials]. Journal of Neurology, Neurosurgery & Psychiatry. 2016 Feb 1;87(2):149-55.</ref> 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. <ref name=":4" /> | ||
The six minute walk test is highly reliable, feasible and sensitive in detecting change in children who are declining with ambulation.<ref name=":0">McDonald CM, Henricson EK, Abresch RT, Florence J, Eagle M, Gappmaier E, Glanzman AM, PTC124‐GD‐007‐DMD Study Group, Spiegel R, Barth J, Elfring G. [https://www.ncbi.nlm.nih.gov/pubmed/?term=The+6%E2%80%90minute+walk+test+and+other+clinical+endpoints+in+Duchenne+muscular+dystrophy%3A+reliability%2C+concurrent+validity%2C+and+minimal+clinically+important+differences+from+a+multicenter+study The 6‐minute walk test and other clinical endpoints in Duchenne muscular dystrophy: reliability, concurrent validity, and minimal clinically important differences from a multicenter study]. Muscle & nerve. 2013 Sep;48(3):357-68. </ref> This tool, measuring ambulatory function, can be affected from biomechanics inefficiencies, decreased endurance and decreased lower extremity strength.<ref name=":0" />The average change in distance over 1 year is -53.67. <ref name=":1" />A score below the threshold of 325m places the individual at higher risk of ambulatory decline in the following year.<ref name=":1" /> This can be supported by a 3 year follow up study that saw the percentage who lost ambulation vary from 5.2% for those who with baseline 6MWD of ≥ 350 m and ≤ 7 years old to 64% with baseline 6MWD of <350 m and were ≥ 7 years old.<ref>Pane M, Mazzone ES, Sivo S, Sormani MP, Messina S, D’Amico A, Carlesi A, Vita G, Fanelli L, Berardinelli A, Torrente Y, Lanzillotta V, Viggiano E, DA P, Cavallaro F, Frosini S, Barp A, Bonfiglio S, Scalise R, De Sanctis R, Rolle E, Graziano A, Magri F, Palermo C, Rossi F, Donati MA, Sacchini M, Arnoldi MT, Baranello G, Mongini T, et al. [https://www.ncbi.nlm.nih.gov/pubmed/25271887 Long term natural history data in ambulant boys with Duchenne muscular dystrophy: 36-month changes]. PLoS One. 2014;9(10):e108205. </ref> | The six minute walk test is highly reliable, feasible and sensitive in detecting change in children who are declining with ambulation.<ref name=":0">McDonald CM, Henricson EK, Abresch RT, Florence J, Eagle M, Gappmaier E, Glanzman AM, PTC124‐GD‐007‐DMD Study Group, Spiegel R, Barth J, Elfring G. [https://www.ncbi.nlm.nih.gov/pubmed/?term=The+6%E2%80%90minute+walk+test+and+other+clinical+endpoints+in+Duchenne+muscular+dystrophy%3A+reliability%2C+concurrent+validity%2C+and+minimal+clinically+important+differences+from+a+multicenter+study The 6‐minute walk test and other clinical endpoints in Duchenne muscular dystrophy: reliability, concurrent validity, and minimal clinically important differences from a multicenter study]. Muscle & nerve. 2013 Sep;48(3):357-68. </ref> This tool, measuring ambulatory function, can be affected from biomechanics inefficiencies, decreased endurance and decreased lower extremity strength.<ref name=":0" />The average change in distance over 1 year is -53.67. <ref name=":1" />A score below the threshold of 325m places the individual at higher risk of ambulatory decline in the following year.<ref name=":1" /> This can be supported by a 3 year follow up study that saw the percentage who lost ambulation vary from 5.2% for those who with baseline 6MWD of ≥ 350 m and ≤ 7 years old to 64% with baseline 6MWD of <350 m and were ≥ 7 years old.<ref>Pane M, Mazzone ES, Sivo S, Sormani MP, Messina S, D’Amico A, Carlesi A, Vita G, Fanelli L, Berardinelli A, Torrente Y, Lanzillotta V, Viggiano E, DA P, Cavallaro F, Frosini S, Barp A, Bonfiglio S, Scalise R, De Sanctis R, Rolle E, Graziano A, Magri F, Palermo C, Rossi F, Donati MA, Sacchini M, Arnoldi MT, Baranello G, Mongini T, et al. [https://www.ncbi.nlm.nih.gov/pubmed/25271887 Long term natural history data in ambulant boys with Duchenne muscular dystrophy: 36-month changes]. PLoS One. 2014;9(10):e108205. </ref> | ||
Revision as of 02:00, 18 May 2020
This is a case study in progress for Queen's University Neuromotor Function project
Abstract[edit | edit source]
Introduction[edit | edit source]
The following is a fictional case study about 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.[1] The disease is caused by a mutation in the dystrophin gene that results in an absence or a decrease in dystrophin within muscle fibers.[2] DMD is a progressive neuromuscular disease characterized by muscle weakness, associated motor delays, loss of ambulation, respiratory impairment and cardiomyopathy. [2] Muscle weakness begins in the lower limbs and effects proximal more than distal muscles. The disease typically progresses through 5 stages: presymptomatic, early ambulatory, late ambulatory, early non-ambulatory, and late non-ambulatory. [3] Diagnosis typically occurs during the early ambulatory stage around age 5 when the initial symptoms are seen including frequent falls, a gower's sign, and trouble with running and climbing stairs.[3] 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.[4][5] High quality multidisciplinary care can slow disease progression, prolong functional independence and prolong life expectancy.[3] Those that are diagnosed with DMD are living longer due to earlier detection of the disease, better clinical practice guidelines and increased ventilator use. 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. [6]
A multidisciplinary team approach is recommended to provide anticipatory and preventative care in order to maintain function for as long as possible.[3] Our case study will focus 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 will be 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.
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. The patient had high levels of creatine kinase, a clinical biomarker for DMD and later saw a genetic counsellor. Then the patient underwent dystrophin gene deletion and duplication testing to confirm the diagnosis.[7]
Client characteristics[edit | edit source]
J.D. is an 8 year old boy who was diagnosed with DMD at 4 years old. He was referred to us by his neuromuscular specialist and has been receiving physiotherapy 1 time per week since 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. J.D. likes to play basketball at recess and in his driveway at home. J.D. has been doing well with and is enthusiastic with his treatment. However, his mother has indicated that J.D. is falling more ofter at home, and has received multiple calls from the school regarding falling during recess and scraping his knee.
Examination findings[edit | edit source]
Subjective[edit | edit source]
The PedsQL represents the child's and parent's perception of the impact of the disease on their own functioning and well-being. It has been recommended that both the PedsQL 3.0 Neuromuscular module and PedsQL 4.0 Generic Core Scales are used to allow for a more comprehensive assessment for children with neuromuscular disorders (PedsQL-NMM). Because of their different perspectives, both the child's self-report and the parent proxy-report should be evaluated in each measure. (PedsQL - NMM). The greatest concern from these measures are the low ratings by both the parent and child in the physical and social functioning scales. The parent also self-reports 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.
The Faces Pain Scale was used for the patient to rate his current pain level. We also asked him to rate his pain currently, after playing a basketball game and over the past 24 hours. The results indicate an increased level of pain with the increased levels of activity that J.D. does. This should be monitored moving forward to determine if it is necessary to decrease the intensity of J.D.'s activities.
PedsQL 4.0 - Generic Core Scales[edit | edit source]
| Scale | Parent Proxy-Report | Child Self-Report |
|---|---|---|
| Total | 56% | 67% |
| Physical Functioning | 50% | 56% |
| Emotional Functioning | 70% | 80% |
| Social Functioning | 40% | 65% |
| School Functioning | 70% | 75% |
PedsQL 3.0 - Neuromuscular Model[edit | edit source]
| Scale | Parent Proxy-Report | Child Self-Report |
|---|---|---|
| Total | 70% | 80% |
| About My Neuromuscular Disorder | 72% | 81% |
| Communication | 67% | 75% |
| About our Family Resources | 65% | 80% |
Faces Pain Scale - Revised (FPS-R)[edit | edit source]
- Current = 2/10
- After a Basketball game = 6/10
- Over the past day = 4/10
Objective[edit | edit source]
To avoid fatigue of the patient, objective measures were collected over 3 separate appointments.
Muscle strength and joint range of motion 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 limb 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.
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 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 but 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 were used to assess mobility of the patient. The NSAA measures gross motor ability (i.e getting up from the ground) and is a highly reliable tool.[8] 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.[9] 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. [9]
The six minute walk test is highly reliable, feasible and sensitive in detecting change in children who are declining with ambulation.[10] This tool, measuring ambulatory function, can be affected from biomechanics inefficiencies, decreased endurance and decreased lower extremity strength.[10]The average change in distance over 1 year is -53.67. [11]A score below the threshold of 325m places the individual at higher risk of ambulatory decline in the following year.[11] This can be supported by a 3 year follow up study that saw the percentage who lost ambulation vary from 5.2% for those who with baseline 6MWD of ≥ 350 m and ≤ 7 years old to 64% with baseline 6MWD of <350 m and were ≥ 7 years old.[12]
All results of the objective examination can be seen below:
North Star Ambulatory Assessment[edit | edit source]
- 22 out of 34.[13]
Six Minute Walk Test[edit | edit source]
- J.D. walked 369m.[11]
MMT and ROM[edit | edit source]
| 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 SLR | N/A | 150° |
| Ankle Dorsiflexion | 3 | 7° |
| Ankle Plantarflexion | 4 | 50° |
Postural Analysis[edit | edit source]
- Standing: Hyper-lorditic curve in the Lumbar spine, anterior pelvic tilt, weight is shifted forward. Bilateral thick calf muscles, winging and anterior tipping of scapulae
- Sitting: Hyper-lorditic curve disappears when sitting. Patient sits with increased thoracic kyphosis.
Gait Analysis[edit | edit source]
- 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[edit | edit source]
| Scale | Score |
|---|---|
| Total Score | 79/96 = 82% |
| D1: Standing and Transfers | 30/39 = 77% |
| D2: Axial and Proximal Limb Motor Function | 29/36 = 80% |
| D3: Distal Limb Motor Function | 20/21 = 95% |
Clinical Impression[edit | edit source]
Problem List[edit | edit source]
- 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
Intervention[edit | edit source]
Patient-Centered Goals[edit | edit source]
Long Term Goals[edit | edit source]
- Maintain 90-90 SLR ROM at 150° at the 6-month reassessment.
- Improve dorsiflexion ROM to 0° at the 6-month reassessment
- Improve ankle dorsiflexion to 3+ at the 6-month reassessment
- Maintain MFM Domain 1 score above 40% one year from now
Short Term Goals[edit | edit source]
- ?Be able to finish the basketball season?
- Reduce the number of falls experienced from 3+ to 1 per week
- Maintain MFM domain 1 score above 65% at the 6-month reassessment
Management Program[edit | edit source]
Stretching[edit | edit source]
- 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 may be added
| Muscle group | Stretch | Sets | Reps | Intensity |
|---|---|---|---|---|
| Ankle dorsiflexors | done 3 times throughout the day | 6reps, holding for 10 seconds | Light pull/ mild discomfort | |
| Knee extensors | Light pull/ mild discomfort | |||
| Knee flexors | Light pull/ mild discomfort | |||
| Hip flexors | Light pull/ mild discomfort | |||
| Hip extensor | Light pull/ mild discomfort |
Balance[edit | edit source]
Standing static and dynamic balance is the focus of the treatment. The patient will participate in a variety of static balance drills in unilateral and bilateral stances, as well as encompass dynamic walking drill as more activity focused drill basketball drills that will keep him engaged and excited to participate in training.
Respiratory Training[edit | edit source]
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
Introduction of gentle, low intensity and impact aerobic exercise is recommended with assistance. Settings from which this may be achieved include swimming, pool exercises, and cycling. Discussions with his basketball coach will be had to modulate J.D's activity level with the team. This may include a minutes limitation to finish out the rest of the season. All those involved will be educated on the possibility that J.D may have decreased exercise capacity despite his level of functioning.
Outcome[edit | edit source]
- At age 12, patient is now non-ambulatory (Update MFM, PedsQL
North Star Ambulatory Assessment
- At age 8, J.D. scored 22 out of 34
- At age 12, J.D. scored 6 out of 34
Six Minute Walk Test[edit | edit source]
- At age 8, J.D. walked 369m
- At age 12, J.D. walked 154m
Discussion[edit | edit source]
- Talk about about how NSAA and 6MWT are not applicable during the non-ambulatory stage, and the importance of using the motor function measure to track progress across different stages of the patients life.
Self-study Questions[edit | edit source]
What are prominent features of gait in someone with DMD?
Which muscle groups are affected the most in someone with DMD?
Additional Resources[edit | edit source]
References[edit | edit source]
- ↑ Mah JK, Selby K, Campbell C, Nadeau A, Tarnopolsky M, McCormick A, et al. A population-based study of dystrophin mutations in Canada. The Canadian journal of neurological sciences Le journal canadien des sciences neurologiques. 2011;38(3):465.
- ↑ 2.0 2.1 Birnkrant DJ, Bushby K, Bann CM, Apkon SD, Blackwell A, Brumbaugh D, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. The Lancet Neurology. 2018;17(3):251-67.
- ↑ 3.0 3.1 3.2 3.3 Bushby K, Finkel R, Birnkrant DJ, Case LE, Clemens PR, Cripe L, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurology. 2010;9(1):77-93.
- ↑ Schreiber-Katz O, Klug C, Thiele S, Schorling E, Zowe J, Reilich P, et al. Comparative cost of illness analysis and assessment of health care burden of Duchenne and Becker muscular dystrophies in Germany. Orphanet Journal of Rare Diseases. 2014;9(1).
- ↑ Ryder S, Leadley R, Armstrong N, Westwood M, de Kock S, Butt T, et al. The burden, epidemiology, costs and treatment for Duchenne muscular dystrophy: an evidence review. Orphanet Journal of Rare Diseases. 2017;12(1).
- ↑ Kieny P, Chollet S, Delalande P, Le Fort M, Magot A, Pereon Y, et al. Evolution of life expectancy of patients with Duchenne muscular dystrophy at AFM Yolaine de Kepper centre between 1981 and 2011. Annals of Physical and Rehabilitation Medicine. 2013;56(6):443-54.
- ↑ Ciafaloni E, Fox DJ, Pandya S, Westfield CP, Puzhankara S, Romitti PA, Mathews KD, Miller TM, Matthews DJ, Miller LA, Cunniff C. Delayed diagnosis in duchenne muscular dystrophy: data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet). The Journal of pediatrics. 2009 Sep 1;155(3):380-5.
- ↑ Scott E, Eagle M, Mayhew A, Freeman J, Main M, Sheehan J, Manzur A, Muntoni F, North Star Clinical Network for Paediatric Neuromuscular Disease. Development of a functional assessment scale for ambulatory boys with Duchenne muscular dystrophy. Physiotherapy Research International. 2012 Jun;17(2):101-9.
- ↑ 9.0 9.1 Ricotti V, Ridout DA, Pane M, Main M, Mayhew A, Mercuri E, Manzur AY, Muntoni F. The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials. Journal of Neurology, Neurosurgery & Psychiatry. 2016 Feb 1;87(2):149-55.
- ↑ 10.0 10.1 McDonald CM, Henricson EK, Abresch RT, Florence J, Eagle M, Gappmaier E, Glanzman AM, PTC124‐GD‐007‐DMD Study Group, Spiegel R, Barth J, Elfring G. The 6‐minute walk test and other clinical endpoints in Duchenne muscular dystrophy: reliability, concurrent validity, and minimal clinically important differences from a multicenter study. Muscle & nerve. 2013 Sep;48(3):357-68.
- ↑ 11.0 11.1 11.2 Henricson E, Abresch R, Han JJ, Nicorici A, Keller EG, de Bie E, McDonald CM. The 6-minute walk test and person-reported outcomes in boys with duchenne muscular dystrophy and typically developing controls: longitudinal comparisons and clinically-meaningful changes over one year. PLoS currents. 2013 Apr 21;5.
- ↑ Pane M, Mazzone ES, Sivo S, Sormani MP, Messina S, D’Amico A, Carlesi A, Vita G, Fanelli L, Berardinelli A, Torrente Y, Lanzillotta V, Viggiano E, DA P, Cavallaro F, Frosini S, Barp A, Bonfiglio S, Scalise R, De Sanctis R, Rolle E, Graziano A, Magri F, Palermo C, Rossi F, Donati MA, Sacchini M, Arnoldi MT, Baranello G, Mongini T, et al. Long term natural history data in ambulant boys with Duchenne muscular dystrophy: 36-month changes. PLoS One. 2014;9(10):e108205.
- ↑ Muntoni F, Domingos J, Manzur AY, Mayhew A, Guglieri M, Network TU, Sajeev G, Signorovitch J, Ward SJ. Categorising trajectories and individual item changes of the North Star Ambulatory Assessment in patients with Duchenne muscular dystrophy. PloS one. 2019;14(9).
