Physical therapy for Duchenne muscular dystrophy

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Physical therapy for Duchenne muscular dystrophy
Specialty neurology

The goal of physical and occupational therapy in Duchenne muscular dystrophy is to obtain a clear understanding of the individual, of their social circumstances and of their environment in order to develop a treatment plan that will improve their quality of life. [1] Individuals with DMD often experience difficulties in areas of self-care, productivity and leisure. This is related to the effects of the disorder, such as decreased mobility; decreased strength and postural stability; progressive deterioration of upper-limb function; and contractures. [1] Occupational and physical therapists address an individual's limitations using meaningful occupations and by grading the activity, by using different assessments and resources such as splinting, bracing, manual muscle testing (MMT), ROM, postural intervention and equipment prescription. [2]

Contents

Orthoses

Splints, also referred to as orthoses, are designed to maintain or improve ROM, prevent deformity, and improve function. Splints help to support and keep limbs stretched, which delays or prevents the onset of contractures that commonly affect the knees, hips, feet, elbows, wrists and fingers. [2] Ankle foot orthoses (AFOs) can be used during sleep or during the day. The purpose of this is to keep the foot from pointing downward and sustain the stretch of the Achilles tendon. [2] Maintaining the length of the tendo-Achilles, also referred to as the gastrocnemius-soleus complex, is extremely important for walking. Knee ankle foot orthoses (KAFOs) are also used for walking or for standing and can be used to prolong ambulation or help delay the onset of lower limb contractures. [2] Orthotic devices have also been suggested to help people that need mechanical support stand upright.

Standing devices

Devices to help a person with duchenne muscular dystrophy stand are a common treatment approach. [3] Orthotic devices are used (as discussed above) and also specific standing devices such as standing frames, standing wheelchairs, and tables that have a tilt function. Standing devices are designed to stabilize a person so that they can bear weight and be standing upright safely, even if they are not able to stand on their own. Studies to determine the benefits of standing devices are few and no high-quality randomized trials have been performed. [3] Proposed benefits of standing as a therapy include improved lengthening of the muscles, improvements in range of motion of hips and lower limbs, the potential for a delay in the start of scoliosis, improvements in bone density, improvements in muscle spasms, improved function of the respiratory system and voice, reduced pressure on the skin, and improved sleep and overall well being. [3]

Manual muscle testing (MMT) and range of motion (ROM)

MMT is used to evaluate muscular strength, whereas goniometry or ROM tests measure movement around a joint. These tests indicate need for intervention such as passive and active ROM, strengthening and splinting. Passive ROM combined with the use of night splints can significantly improve tendo-Achilles contractures. [4]

Exercise

Virtual reality devices can be used in order to motivate the individual to do certain upper extremity exercises. A physical therapist can use this device to enhance attention during the session possibly enhancing performance of the session. [5]

Seating and positioning

Proper seating is essential to prevent spinal curvatures. Severe scoliosis is common in DMD and can interfere with sitting, sleeping, and breathing. [6] A wheelchair that is fitted appropriately accounts for frame size, type of seat, lumbar support and cushioning to avoid pressure ulcers. [1] It should be equipped with other mechanical devices, such as tilt ability, in order to provide comfort and to protect the skin. Power wheelchairs are indicated for most clients who can no longer ambulate, as they do not have enough upper extremity strength to propel a manual wheelchair independently. [1] DMD affects many people in their adolescence, so it is crucial for rehab therapists to be conscious that significant development may occur during this time. [6] Without proper seating and postural support throughout development, deformation may occur. This could then result in dysfunctional positioning. It is important for rehab therapists to re-evaluate the fit of an individual’s wheelchair as often as every year during adolescence. [6] Other adaptions to seating and positioning may include head and neck supports, as well as supports for the legs and arms. [6]

Adaptive equipment and devices

There are many alternate mobility options, positioning aids and other equipment that rehab therapists may prescribe. These include walkers or quad-canes, which can be used for individuals who are able ambulate to reduce the risk of falling. In addition, transfer boards, mechanical lifts and specific transferring education are important because fractures have been seen to occur during transfers as a result of osteoporosis. [7] Handheld shower heads and bath benches are indicated to enable individuals to manage their own self-care needs as much as possible. [7] Individuals who are able to bear weight and take a few steps may utilize commode chairs, thus giving them the ability to visit the toilet independently. [7] To complement an individualized wheelchair, an occupational therapist may also consider prescribing a hospital bed, pressure-relieving mattresses and foam wedges for proper positioning to prevent pressure skin ulcers, contractures and deformities. [1] Specialized trays, input devices and software may also be prescribed to facilitate computer use. As DMD progresses other medical equipment may become necessary such as a ventilator or other respiratory aids. [8]

Social skills development

Along with physical difficulties, individuals with DMD may have social issues that an occupational therapist can assist them in overcoming. [7] Group sessions or individualized programs that focus on coping mechanisms for depression are examples of what an occupational therapist can facilitate. [7] Self-esteem building for individuals of all ages is an essential part of ensuring that a high quality of life is achieved. [7] Occupational therapy intervention can play an essential role in supporting the development of social skills through group interactions and other life experiences. [7] An occupational therapist can use a variety of psychosocial frameworks for developing strategies and techniques for individuals to utilize, which will help them work through various psychosocial issues they may be experiencing. [1]

Sexual health

Sexuality is a topic that many people feel uncomfortable discussing and thus may be overlooked by health care professionals. An occupational therapist will educate individuals with DMD on safe and effective ways to experience their sexual life. Such education can include various forms of sex as well as numerous positions that they would be able to perform. [1]

Employment

Gaining and maintaining employment can be difficult for individuals with DMD. An occupational therapist may collaborate with an individual, employer and case manager to ensure that the individual’s work environment is as enabling and accessible as possible. By adapting the physical work environment, the social environment and the work requirements and guidelines, an individual can maintain meaningful employment as well as be as an asset to his or her employer. This may not only impact the individual’s perceived self-efficacy but also his or her financial well-being. [1]

Home modifications

If it is a priority of the client, maintaining independence is often a main focus of occupational therapy interventions. Within the home, there are numerous obstacles that may prevent a client from being as independent as possible. Home modifications and adaptations are something that an occupational therapist can assist with. Such modifications may include: railings for safe mobility and transfers, lifts, adapted kitchens that are accessible for wheelchairs and bathroom modifications such as raised toilet seats or modified baths. [1] Other examples are adaptive equipment for playing computer and video games, supports for biking and adaptations for fishing rods.

Leisure

A recreational or occupational therapist can support individuals with DMD to find leisure activities in which it is meaningful for them to take part. Accommodations and adaptations can be made to enhance participation. [1]

Advocacy

In order to create a successful therapeutic relationship, it is important to coordinate with family members, friends and other social resources to ensure that a person with DMD has both physical and emotional support. An occupational therapist can act as an advocate for his or her client and can educate those around him or her regarding information about the illness, supports, resources and other concerns. An occupational therapist can also provide his or her client with the tools to learn how to provide his or her own advocacy. [1]

Related Research Articles

<span class="mw-page-title-main">Muscular dystrophy</span> Genetic disorder

Muscular dystrophies (MD) are a genetically and clinically heterogeneous group of rare neuromuscular diseases that cause progressive weakness and breakdown of skeletal muscles over time. The disorders differ as to which muscles are primarily affected, the degree of weakness, how fast they worsen, and when symptoms begin. Some types are also associated with problems in other organs.

<span class="mw-page-title-main">Dystrophin</span> Rod-shaped cytoplasmic protein

Dystrophin is a rod-shaped cytoplasmic protein, and a vital part of a protein complex that connects the cytoskeleton of a muscle fiber to the surrounding extracellular matrix through the cell membrane. This complex is variously known as the costamere or the dystrophin-associated protein complex (DAPC). Many muscle proteins, such as α-dystrobrevin, syncoilin, synemin, sarcoglycan, dystroglycan, and sarcospan, colocalize with dystrophin at the costamere. It has a molecular weight of 427 kDa

<span class="mw-page-title-main">Arthrogryposis</span> Medical condition

Arthrogryposis (AMC) describes congenital joint contracture in two or more areas of the body. It derives its name from Greek, literally meaning 'curving of joints'.

<span class="mw-page-title-main">Duchenne muscular dystrophy</span> Type of muscular dystrophy

Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy that primarily affects boys. Muscle weakness usually begins around the age of four, and worsens quickly. Muscle loss typically occurs first in the thighs and pelvis followed by the arms. This can result in trouble standing up. Most are unable to walk by the age of 12. Affected muscles may look larger due to increased fat content. Scoliosis is also common. Some may have intellectual disability. Females with a single copy of the defective gene may show mild symptoms.

Hypotonia is a state of low muscle tone, often involving reduced muscle strength. Hypotonia is not a specific medical disorder, but a potential manifestation of many different diseases and disorders that affect motor nerve control by the brain or muscle strength. Hypotonia is a lack of resistance to passive movement, whereas muscle weakness results in impaired active movement. Central hypotonia originates from the central nervous system, while peripheral hypotonia is related to problems within the spinal cord, peripheral nerves and/or skeletal muscles. Severe hypotonia in infancy is commonly known as floppy baby syndrome. Recognizing hypotonia, even in early infancy, is usually relatively straightforward, but diagnosing the underlying cause can be difficult and often unsuccessful. The long-term effects of hypotonia on a child's development and later life depend primarily on the severity of the muscle weakness and the nature of the cause. Some disorders have a specific treatment but the principal treatment for most hypotonia of idiopathic or neurologic cause is physical therapy and/or occupational therapy for remediation.

<span class="mw-page-title-main">Becker muscular dystrophy</span> Genetic muscle disorder

Becker muscular dystrophy is an X-linked recessive inherited disorder characterized by slowly progressing muscle weakness of the legs and pelvis. It is a type of dystrophinopathy. This is caused by mutations in the dystrophin gene, which encodes the protein dystrophin. Becker muscular dystrophy is related to Duchenne muscular dystrophy in that both result from a mutation in the dystrophin gene, but has a milder course.

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<span class="mw-page-title-main">Emery–Dreifuss muscular dystrophy</span> Medical condition

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The dystrophin-associated protein complex, also known as the dystrophin-associated glycoprotein complex is a multiprotein complex that includes dystrophin and the dystrophin-associated proteins. It is one of the two protein complexes that make up the costamere in striated muscle cells. The other complex is the integrin-vinculin-talin complex.

<span class="mw-page-title-main">Bethlem myopathy</span> Medical condition

Bethlem myopathy is predominantly an autosomal dominant myopathy, classified as a congenital form of muscular dystrophy. There are two types of Bethlem myopathy, based on which type of collagen is affected.

<span class="mw-page-title-main">Toe walking</span> Medical condition

Toe walking refers to a condition where a person walks on their toes without putting much or any weight on the heel or any other part of the foot. This term also includes the inability to connect one's foot fully to the ground while in the standing phase of the walking cycle. Toe walking in toddlers is common. Children who toe walk as toddlers commonly adopt a heel-toe walking pattern as they grow older. If a child continues to walk on their toes past the age of three, or cannot get their heels to the ground at all, they should be evaluated by a health professional who is experienced in assessing children's walking.

<span class="mw-page-title-main">Muscle contracture</span> Permanent shortening of a muscle

Muscle contractures can occur for many reasons, such as paralysis, muscular atrophy, and forms of muscular dystrophy. Fundamentally, the muscle and its tendons shorten, resulting in reduced flexibility.

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Over time, the approach to cerebral palsy management has shifted away from narrow attempts to fix individual physical problems – such as spasticity in a particular limb – to making such treatments part of a larger goal of maximizing the person's independence and community engagement. Much of childhood therapy is aimed at improving gait and walking. Approximately 60% of people with CP are able to walk independently or with aids at adulthood. However, the evidence base for the effectiveness of intervention programs reflecting the philosophy of independence has not yet caught up: effective interventions for body structures and functions have a strong evidence base, but evidence is lacking for effective interventions targeted toward participation, environment, or personal factors. There is also no good evidence to show that an intervention that is effective at the body-specific level will result in an improvement at the activity level, or vice versa. Although such cross-over benefit might happen, not enough high-quality studies have been done to demonstrate it.

<span class="mw-page-title-main">Genu recurvatum</span> Orthopedic deformity

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<span class="mw-page-title-main">Dynasplint Systems</span>

Dynasplint Systems, Incorporated (DSI) is a company that designs, manufactures and sells dynamic splints that are used for range of motion rehabilitation. The corporate headquarters are located in Severna Park, Maryland and it is considered a major employer in Anne Arundel County. Products are Made in the US in Stevensville, Maryland. There is a national sales force throughout the US as well as a presence in Canada and Europe.

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<span class="mw-page-title-main">Eteplirsen</span> Medication

Eteplirsen is a medication to treat, but not cure, some types of Duchenne muscular dystrophy (DMD), caused by a specific mutation. Eteplirsen only targets specific mutations and can be used to treat about 14% of DMD cases. Eteplirsen is a form of antisense therapy.

Toshifumi (Toshi) Yokota is a medical scientist and professor of medical genetics at the University of Alberta, where he also holds the titles of the Friends of Garrett Cumming Research & Muscular Dystrophy Canada Endowed Research Chair and the Henri M. Toupin Chair in Neurological Science. He is best known for his studies of antisense oligonucleotide-based therapeutics for muscular dystrophy that led to the development of an FDA-approved drug viltolarsen. His research interests include precision medicine for muscular dystrophy and genetic diseases. He has co-edited two books both published in the Methods in Molecular Biology series from Humana Press, Springer-Nature, and has published more than 100 refereed papers and patents. He is a member of the editorial boards for the International Journal of Molecular Sciences, Genes, Frontiers in Genome Editing, Frontiers in Physiology, and Nucleic Acid Therapeutics, a member of the Medical and Scientific Advisory Committee of Muscular Dystrophy Canada, and a co-founder of the Canadian Neuromuscular Network (CAN-NMD).

References

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  2. 1 2 3 4 Kinali, M; Manzur, AY; Muntoni, F (2008). "Recent developments in the management of Duchenne muscular dystrophy". Paediatrics and Child Health. 18 (1): 22–26. doi:10.1016/j.paed.2007.10.001.
  3. 1 2 3 Pedlow, Katy; McDonough, Suzanne; Lennon, Sheila; Kerr, Claire; Bradbury, Ian (2019-10-13). "Assisted standing for Duchenne muscular dystrophy". The Cochrane Database of Systematic Reviews. 10 (10): CD011550. doi:10.1002/14651858.CD011550.pub2. ISSN   1469-493X. PMC   6790222 . PMID   31606891.
  4. ↑ Hyde SA, FlŁytrup I, Glent S, Kroksmark AK, Salling B, Steffensen BF, Werlauff U, Erlandsen M (2000). "A randomized comparative study of two methods for controlling Tendo Achilles contracture in Duchenne muscular dystrophy". Neuromuscular Disorders. 10 (4): 257–263. doi:10.1016/S0960-8966(99)00135-2. PMID   10838252. S2CID   24827374.
  5. ↑ Baeza-Barragán, Maria Rosa; Manzanares, Maria Teresa Labajos; Vergara, Carmen Ruiz; Casuso-Holgado, María Jesús; Martín-Valero, Rocío (2020-12-08). "The Use of Virtual Reality Technologies in the Treatment of Duchenne Muscular Dystrophy: Systematic Review". JMIR mHealth and uHealth. 8 (12): e21576. doi: 10.2196/21576 . PMC   7755530 . PMID   33289679.
  6. 1 2 3 4 Richardson M, Frank AO (2009). "Electric powered wheelchairs for those with muscular dystrophy: problems of posture, pain and deformity". Disabil Rehabil Assist Technol. 4 (3): 181–8. doi:10.1080/17483100802543114. PMID   19199130. S2CID   5298721.
  7. 1 2 3 4 5 6 7 Wagner KR, Lechtzin N, Judge DP (2007). "Current treatment of adult Duchenne muscular dystrophy" (PDF). Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1772 (2): 229–237. doi:10.1016/j.bbadis.2006.06.009. PMID   16887341.
  8. ↑ Bell, Jennifer M; Shields, Michael D; Watters, Janet; Hamilton, Alistair; Beringer, Timothy; Elliott, Mark; Quinlivan, Rosaline; Tirupathi, Sandya; Blackwood, Bronagh (2017-01-24). "Interventions to prevent and treat corticosteroid-induced osteoporosis and prevent osteoporotic fractures in Duchenne muscular dystrophy". Cochrane Database of Systematic Reviews. 2017 (1): CD010899. doi:10.1002/14651858.cd010899.pub2. ISSN   1465-1858. PMC   6464928 . PMID   28117876.
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