Duchenne s muscular dystrophy a multidisciplinary approach
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Duchenne’s Muscular Dystrophy: A Multidisciplinary Approach. By: Brittany Annis, Student PT Ithaca College 2010. Objectives. Introduce background information on Duchenne’s Muscular Dystrophy Identify associated pathologies

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Duchenne s muscular dystrophy a multidisciplinary approach

Duchenne’s Muscular Dystrophy:A Multidisciplinary Approach

By: Brittany Annis, Student PT

Ithaca College 2010


Objectives
Objectives

  • Introduce background information on Duchenne’s Muscular Dystrophy

  • Identify associated pathologies

  • Identify and explain the benefits of the multidisciplinary team members

  • Describe the goals and interventions of physical therapy for DMD

  • Describe current evidence and recommendations for exercise and DMD


Intro to dmd
Intro to DMD

  • Most prevalent childhood muscular dystrophy, every 1 in 3000-6000 male births

  • X-linked recessive disorder- gene deletion

  • Deficiency of the muscle protein Dystrophin

  • Progressive muscle weakness in skeletal, smooth, and cardiac muscle

  • It has been observed that there is a greater number of Type II muscle fibers with degeneration compared to Type I.


Dystrophin
Dystrophin

  • Provides mechanical reinforcement to the sarcolemmal membrane of muscle fibers; protects muscle fibers from being damaged while stressed during muscle contraction.


Lifespan of dmd
Lifespan of DMD

  • Shortened lifespan due to progressive muscle weakness and complications- mean age is 19 without intervention, mid-to-late twenties with proper care.

  • Now, studies and research are showing that if properly diagnosed, individuals with DMD can have possible lifespan into their forties


Signs and symptoms
Signs and Symptoms

  • Early signs between ages 3 and 5, when most commonly diagnosed

    • Delayed walking

    • Inability to run, jump, keep up with peers

    • Difficulty climbing stairs

    • Gower’s Sign

    • Frequent falls

    • Occasionally (30%) global developmental delay and delayed speech


Associated pathologies weakness
Associated Pathologies: Weakness

  • Progressive weakness of hip and shoulder girdle musculature

  • Weakness in paraspinals make walking difficult

  • Leads to:

    • Waddling gait

    • Lumbar lordosis

    • Forward thrusting of the abdomen

    • Scapular winging

    • Anteroposterior scoliotic curve

    • Joint contractures

    • Respiratory impairment

    • Weight gain


Associated pathologies joint contractures

Mainly found at hips, knees, ankles

Contractured Tensor Fascia Latae:

Waddling gait

Tightened IT Band

Resultant hip and knee pain/deformities

Equinovarus:

Ankle plantarflexion and supination

Tight gastrocnemius mm/Achilles tendon

Associated weakness of tibialis anterior and peroneal mms

Complications include:

Difficulty wearing shoes

Foot pain

Hypersensitivity

Concern about foot’s appearance

Associated Pathologies: Joint Contractures


Associated pathologies scoliosis
Associated Pathologies:Scoliosis

  • Most commonly seen when non-ambulatory, due to increased amount of time spend seated in a wheelchair

  • May require spinal fusion to promote better sitting and comfort, to prevent further deformity, avoid respiratory compromise


The multidisciplinary team

Can alter the natural progression of the disease and improve function and quality of life.

Comprehensive set of recommendations to manage the wide spectrum of complications

Includes:

Rehabilitation

Orthopedics

Pharmocologics

Psychosocial

Respiratory care

Cardiovascular care

Pain

Gastroenterology/ Nutrition

The Multidisciplinary Team


Corticosteroids
Corticosteroids function and quality of life.

  • Currently the best treatment option available

  • Improve muscle strength and function

  • Significantly slow the progression of muscle weakness

  • Prolong ambulation to mid-teens or later

  • Delay the onset of respiratory and/or cardiac dysfunction

  • [Use caution: complications include weight gain, vertebral fractures, failure to gain height, irritability]


Respiratory management
Respiratory Management function and quality of life.

  • Patients with DMD are at increased risk of respiratory complications

  • Because of progressive loss of muscle strength:

    • Cough may be ineffective

    • Nocturnal hypoventilation

    • Sleep-disordered breathing

  • PT can assist with respiratory management by having patient breathe against a resistive load (water in pool), breath-holding, bubble-blowing, to improve ventilatory strength and endurance.

  • Important to note signs and symptoms of hypoventilation to refer patient to respiratory physician.

    • Fatigue, dyspnea, tachycardia, morning/continuous headaches, sleep dysfunction, nightmares, difficulty concentrating


Cardiac management
Cardiac Management function and quality of life.

  • Cardiomyopathy and/or cardiac arrhythmia are major sources of mortality in DMD

  • The heart/myocardium have areas of hypertrophy, atrophy, and fibrosis

  • Failure to see a cardiac specialist early in the disease process have led to late treatment and poor outcomes

  • Higher levels of fitness are associated with better cardiac health


Potential surgeries
Potential Surgeries function and quality of life.

  • Heelcord lengthening

  • Hamstring lengthening

  • ITB lengthening

  • Cannot perform hip flexor lengthening (responds poorly, weakens muscles and cannot properly brace)

    • Hip deformities often correct themselves once knee and ankle malalignments have been altered.

  • Surgery in the late ambulatory phase or after is usually not effective.


Other important teams
Other Important Teams: function and quality of life.

  • Nutritional, swallowing, gastrointestinal, speech and language, pain management, psychosocial, pharmacological

  • All fields are continuously changing as the stages of the disease change


Goals of physical therapy
Goals of Physical Therapy function and quality of life.

  • Prolong independent ambulation

  • Maximize functional ability

  • Prevent complications of inactivity

  • Improve emotional well-being


Physical therapy interventions

Stretching/Positioning function and quality of life.

Management of contractures

Assistive devices

Exercise

Objective measures and testing to monitor progression

Physical Therapy Interventions


Objective measures

Strength testing function and quality of life.- MMT to monitor disease progression and predict functional losses, assess responses to treatment and monitor muscle imbalances

Test LEs every 6 months when ambulatory; test UE and LE every 6 months when non-ambulatory

ROM: goniometry to identify hypomobility, jt contractures that may contribute to functional deterioration or to musculoskeletal/integumentary complications, or to note need of splinting/orthotics.

In ambulatory phase, measure hips, knees, ankles (ITB, H/S, heelcords). In non-ambulatory phase, measure UE as well as LE (elbows, wrists, finger flexors)

Objective Measures


Objective measures con t

Timed Testing function and quality of life.: Standardized tests are responsive to change, easy to administer, relevant to function (when ambulatory only)

Timed 10 meter walk, timed Gower’s manuever, time to climb 4 stairs, 6 min walk test

ADLs: Assessment of impairment in home, school, community settings

Frequency of falls, self-care skills

Objective Measures, Con’t


Stretching

Combination of AROM, AAROM, PROM, prolonged elongation (splinting, positioning)

Minimum of 4-6 days per week, at home/school and in the clinic

Heelcords: Gastrocnemius/ Achilles Tendon lengthening into dorsiflexion

Tensor Fascia Latae/Iliotibial Band: stretch hip into adduction, internal rotation, and extension.

Other muscles throughout the hips, knees and ankles

In non-ambulatory phase, also focus on upper extremities: finger flexors, wrist flexors, elbow and shoulder joints

Stretching


Assistive devices afos
Assistive Devices: AFOs (splinting, positioning)

  • Custom-molded and comfortable for optimum foot and ankle alignment

  • Throughout life: AFO’s are appropriate at night to prevent or minimize the progression of equinus contractures

  • Late stages:

    • KAFOs for non-ambulatory boys to prevent contracture and deformity (not for use at night)

    • Resting hand splints for finger flexors


Assistive devices con t

Wheelchair: Need appropriate postural positioning to prevent scoliosis and back pain/aches

Powered for more involved patients.

Manual Lightweight for less involved patients so can self propel and increase independence, as well as provide arm exercise

Standing Frames: A few hours per day, even with minimal weight bearing, to prevent and reduce the severity of contractures, decubitis ulcers, and scoliosis.

Also improves bone mineral density, circulation, and GI and respiratory functions.

Assistive Devices Con’t


Exercise
Exercise scoliosis and back pain/aches

  • There is a high level of controversy concerning whether exercise is beneficial or harmful to patients with DMD

  • Normal, dystrophic muscle (those without muscular dystrophy) can withstand mechanical forces during contraction.

  • Those with muscular dystrophy are compromised due to weakened muscles, joints, tendons, and bones during muscle contractions and weight-bearing.

  • But exercise is very important to avoid disuse atrophy and other secondary complications of inactivity


Type i vs type ii fibers

Type I muscle fibers are slow twitch for slower contractions, and fatigue-resistant, so good for continuous contractions (postural muscles)

Type II muscle fibers are fast twitch for quick contractions, and are easily fatigued (“sprinter” muscles). They are also less resistant to mechanical stresses (more easily injured)

It is possible to switch Type II muscle fibers to Type I with exercise training, so with an increased number of Type I fibers, the muscles are more durable and more resistant to degeneration.

But the form of exercise needed to switch Type II fibers to Type I is very specific

Type I vs Type II Fibers


Current evidence regarding exercise

In a mouse study, a greater percentage of Type I muscle fibers were observed after low intensity, long-term exercise

Sedentary mice with DMD had a higher percentage of Type I fibers than sedentary mice without DMD

It has been observed that Type II muscle fibers are subject to greater degeneration, and the majority of research using animal models and some human studies suggest that increasing activity may actually slow the degeneration in dystrophic muscle.

Current Evidence Regarding Exercise


Current evidence con t
Current Evidence, Con’t fibers were observed after low intensity, long-term exercise

  • Further studies and information are needed for each subtype of muscular dystrophy to create subtype-specific recommendations, including specifics such as age, severity, rate of progression, and level of motivation.


Recommended exercise for dmd

Low resistive and aerobic exercise are justified to: fibers were observed after low intensity, long-term exercise

Prevent deconditioning, decreased fitness, disuse atrophy and joint contractures

Counteract secondary complications of inactivity such as obesity, Diabetes, osteoporosis and cardiovascular diseases

Long term, low-intensity, preferably no load (or low-load) weight-bearing activity to reduce mechanical stress on the muscle

Increased Type I fibers, which are less vulnerable to degeneration

Will not promote hypertrophy

Recommended Exercise for DMD


Recommended exercise for dmd con t

Use caution to ensure that cardiovascular or muscular complications do not develop

High-resistance and eccentric exercise is NOT recommended, although it has not actually been proven harmful for a DMD patient

Aquatic Therapy! Excellent for improving/ maintaining mobility, strength, flexibility, and aerobic conditioning and cardiopulmonary fitness

Recommended Exercise for DMD, Con’t


Current evidence
Current Evidence complications do not develop

  • Research and studies are being done with continuous advances and milestones in DMD research

  • The severity of DMD can be determined by a positive correlation to the amount of dystrophin present in the muscle (the more dystrophin, the less severe the symptoms and progression)

  • Corticosteroid prednisone was found effective in slowing the progression of DMD, and it also stimulates utrophin production ( a mm protein similar to dystrophin)

  • Gene therapy clinical trials are underway and dystrophin gene injections are judged safe in clinical trial including 6 boys with DMD; studies are being continued


Works cited
Works Cited complications do not develop

Ansved, Tor. "Muscular Dystrophies: Influence of Physical Conditioning on Disease Evolution." Current Opinion in Clinical Nutrition and Metabolic Care 6 (2003): 435-39. Print.

Bushby, Katharine, Richard Finkel, and David Birnkrant. "Diagnosis and Management of Duchenne Muscular Dystrophy, Part 1: diagnosis, and pharmacological and psychosocial management." 30 Nov. 2009. Web. 1 Dec. 2009. <http://quest.mda.org/files/pdfs/Part_1-newDMD.pdf>.

Bushby, Katharine, Richard Finkel, and David Birnkrant. "Diagnosis and Management of Duchenne Muscular Dystrophy, Part 2: implementation of multidisciplinary care." 30 Nov. 2009. Web. 1 Dec. 2009. <http://http://quest.mda.org/files/pdfs/Part_2-newDMD.pdf>.

Ciafaloni, MD, Emma, and Richard T. Moxley, MD. "Treatment Options for Duchenne Muscular Dystrophy." Current Treatment Options in Neurology 10.2 (2008): 86-93. Print.

Milestones in Duchenne's Muscular Dystrophy Research. MDA.org, Feb. 2009. Web. 1 Dec. 2009. <http://www.mda.org/publications/milestones/dmd.html>.

Palmieri, B., V. Sblendorio, A. Ferrari, and A. Pietrobelli. "Duchenne Muscle Activity Evaluation and Muscle Function Preservation." Obesity Reviews 9 (2008): 121-39. Print.

Sayers, Stephen P. "The Role of Exercise as a Therapy for Children with Duchenne Muscular Dystrophy." Pediatric Exercise Science 12 (2000): 23-33. Print.