Open access peer-reviewed chapter
Physiotherapy interventions for types of muscular dystrophy [22, 23, 24, 25, 26, 27, 28, 29].
Abstract
Muscular dystrophies are rare neuromuscular conditions which are genetically and clinically diverse that cause gradual, progressive weakness and breakdown of skeletal muscles over time. Gene mutations, typically in those involved in producing muscle proteins, are the primary cause of muscular dystrophy. Based on these gene mutations and proteins involved a wide variety of muscular dystrophies have been identified. The primary muscles affected, the level of weakness, the rate at which symptoms increase, and the onset of symptoms vary among different muscular dystrophies. Some forms are linked to issues with other organ systems. The kind of muscular dystrophy will be ascertained through a physical examination, medical history, and other diagnostic techniques. Currently, there is no cure for muscular dystrophy. Multidisciplinary management plays a vital role in increasing life expectancy and improving the quality of life. Physical therapy as a part of supportive care management can help muscular dystrophy patients in various ways. It can help in maintaining joint range of motion, flexibility, and overall fitness. It helps in maintaining muscle strength, improving range of motion, and reducing pain. In this chapter, we will present the advanced physiotherapeutic interventions helpful for subjects with muscular dystrophies, based on the evidence available in the literature.
Keywords
- muscular dystrophy
- physiotherapy
- muscle strength
- assistive devices
- fall prevention
1. Introduction
Muscular dystrophies are inherited myogenic conditions distinguished by gradual muscle atrophy, variable distribution, and extreme weakness. Depending on the kind of muscular dystrophy, particular signs and symptoms appear at various ages and in various muscle groups. In muscular dystrophy, gene mutations prevent the body from making the necessary proteins for building healthy muscle [1]. According to estimates, there are 3.6 cases of muscular dystrophy per 100,000 persons worldwide. While the prevalence of the most prevalent types of muscular dystrophies, such as Duchene’s and Beckers, is estimated to be 4.6 and 1.6 per 100,000 individuals, respectively, with Americans having the highest prevalence at 5.1 per 100,000 and Africans having the lowest prevalence at 1.7 per 100,000 people [2].
Studies evaluating the burden of care and utilization of resources in patients with degenerative myopathy were more prevalent in both newly diagnosed patients and those who already had the disease. Duchene’s muscular dystrophy (MD) has a direct annual medical expenditure that can be anywhere between $20,000 and over $50,000. Medical expenses cover direct myopathy-related expenses and secondary issues such as cardiac, pulmonary, nutritional, and spine concerns. MD-related medical expenses rise along with their associated problems throughout time [3].
From the past centuries, the primary pattern of muscle involvement, age of onset, and other clinical characteristics have been used to categorise muscular dystrophies. Based on inheritance and the underlying genetic abnormality, subtypes were identified. Congenital muscular dystrophies typically manifest symptoms within the first few months of life or soon after birth. DMD and many limb-girdle muscular dystrophies appear in early infancy or adolescence, frequently after the development of independent ambulation. Myotonic dystrophy, facioscapulohumeral muscular dystrophy, and other limb-girdle muscular dystrophies typically present in adulthood [4].
An integrated approach that combines clinical signs, age of onset, distribution of muscle weakness, and cardiac involvement with specific diagnostic procedures like laboratory tests, muscle biopsy, muscle imaging, genetic testing, and brain imaging can help make a diagnosis of muscular dystrophies [5].
Pharmacological therapies used in the management and treatment of epilepsy, muscle tone, pain, and inflammation include anti-arrhythmic, anti-epileptic, anti-myotonic, non-steroidal anti-inflammatory medications (NSAIDs), and steroids. In order to achieve ambulation, surgical procedures including contracture release and spinal adjustments are useful. Muscular dystrophies can be prevented and managed with the use of genetic counselling, which should be given to the mother, female siblings, children, and any maternal relatives.
General supportive care, such as physical therapy, range-of-motion exercises, cushioning, skincare, orthotics, and safety awareness may be helpful in addition to pharmacological treatments [6].
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2. Classification
According to their inheritance, age of onset, rate of progression, the extent and distribution of muscle weakness, and other related clinical symptoms, muscular dystrophies are divided into different categories.
2.1 Congenital muscular dystrophy (CMD)
A collection of autosomal recessive muscular dystrophies that either manifest at birth or before age. This group of dystrophies is categorised based on their phenotypic features into collagenopathies, merosinopathies, and Dystroglycanopathies. The primary clinical signs of the CMDs are hypotonia and progressive skeletal muscle weakening. These conditions may appear in diverse combinations of pulmonary, ophthalmologic, neurologic, gastrointestinal, cardiovascular, and neurologic symptoms [7]
2.2 Dystrophinopathies
Dystrophinopathies are of two forms, Severe one as Duchenne Muscular Dystrophy (DMD) phenotype and milder Beckers Muscular Dystrophy (BMD) phenotype.
2.2.1 Duchenne muscular dystrophy (DMD) phenotype
A most common form of muscular dystrophy with childhood and young onset. This X-Linked recessive disorder primarily affects male births and females are carriers.it is caused due to mutations in the DMD gene, which incorporates a protein called dystrophin. Its absence causes myofiber necrosis as well as progressive muscle weakness and fatigue. Progressive muscle weakness and wastage in the proximal lower limbs and trunk muscles, followed by upper limb and distal muscles. Delay in gross motor development, Gait abnormalities such as toe walking, and waddling gait. Difficulty in climbing the stairs, raising from the floor (Positive Gowers sign), and frequent falls. Secondary skeletal abnormalities such as reduction in bone density, risk of fractures, joint contractures, and Scoliosis. Respiratory symptoms such as ventilatory insufficiency, decreased cough capacity, respiratory tract infections, and sleep disorder breathing caused by Obstructive sleep apnea. Congestive heart failure, cardiac insufficiency, abnormal cardiac conduction, ventricular or supraventricular arrhythmias, and risk of unexpected early death are all consequences of progressive dilated cardiomyopathy. There are certain other symptoms like Cognitive decline, neuropsychological issues, and atypical neurobehavioral actions. Children with Duchenne MD now live longer and enjoy a much better quality of life due to advancements in multidisciplinary care. Many people live through their 30s, and some even into their 40s [8].
2.2.2 Beckers muscular dystrophy (BMD) phenotype
This kind of dystrophy is less severe than Duchenne muscular dystrophy. It can also be brought on by mutations in the dystrophin gene, which cause the muscles to have abnormally high or low quantities of the dystrophin protein. Compared to Duchenne, the symptoms do not manifest until later [9].
2.3 Emery-Dreyfuss muscular dystrophy (EDMD)
It is a relatively rare form of muscular dystrophy that falls into one of three inheritance categories: X-linked, autosomal dominant, or autosomal recessive. The pathogenesis of EDMD has been linked to a number of genes. To particular EDMD subtypes, EMD, LMNA, SYNE1, SYNE2, FHL1, and TMEM43 have all been identified. The four defining symptoms of EDMD are muscle weakness, early contractures, abnormal cardiac conduction, and cardiomyopathy, however, the presence and severity of these manifestations differ by subtype and person [10].
2.4 Limb-girdle muscular dystrophies (LGMD)
These conditions have been found to be a diverse set of myopathies that can affect people of all ages, from children to adults and range in severity. Depending on the mode of inheritance, the LGMDs are divided into two main groups: LGMD1 (autosomal dominant) and LGMD2 (autosomal recessive) [11]. The proximal muscles of the arms and legs are most significantly impacted by limb-girdle Dystrophies. Sometimes other patterns also include scapula peroneal, humeroperoneal and distal patterns of weakness. Associated issues with this kind of muscular dystrophy are cardiac involvement, Dysphagia, pulmonary complications and musculoskeletal spinal deformities [12].
2.5 Facioscapulohumeral dystrophy (FSHD)
Facioscapulohumeral dystrophy is the third most prevalent type of muscular dystrophy. This condition is of autosomal dominant inheritance. From early infancy through late adulthood, FSHD can start at any age. Although the deltoids are not affected, facial, periscapular, and humeral muscles are frequently affected early in the disease progression. FSHD usually advances slowly yet unevenly. Respiratory insufficiency and cardiac complications are rare when compared with retinal vascular diseases and hearing loss. Most patients with childhood onset have significant hearing loss which may impair language development [7].
2.6 Myotonic dystrophy (DM)
There are two different forms of myotonic muscular dystrophies, known as DM1 and DM2, which are autosomal dominant diseases characterised by increasing weakening, myotonia, and early-onset cataracts. A repeat expansion that removes or separates RNA-binding proteins and leads to improperly controlled alternative splicing is the root cause of both DM1 and DM2. The various symptoms linked to both disorders are most likely caused by the widespread dysregulation of alternative splicing. DM1 causes distal weakness in the long finger flexors, facial muscles, and ankle dorsiflexion. Myotonia (delayed muscle relaxation) is simpler to provoke in DM1 than in DM2 both clinically and electrodiagnostically. Proximal weakness and noticeable muscle discomfort are more prevalent in those with DM2. Despite these differences, these conditions can result in multisystem symptoms in the heart, gastrointestinal tract, and brain [13].
2.7 Oculopharyngeal dystrophy (OPMD)
Oculopharyngeal muscular dystrophy (OPMD), a late-onset myopathy, is defined by progressive ptosis, dysphagia, and proximal limb weakening. The polyadenine (poly[A]) binding protein nuclear 1 gene’s exon 1 contains an aberrant extension of the alanine-encoding (GCN)n trinucleotide repeat, which is the source of the condition. Patients with OPMD may exhibit extra muscular symptoms like loss of respiratory function, particularly decreased forced expiratory volume, even while cardiac functions may still be intact. There have been instances of cohabitation with peripheral neuropathy, executive function problems, or dementia. The majority of the patients had problems walking and engaging in social activities, and nearly half of them reported feeling exhausted and in pain [14].
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3. Management
The type of muscular dystrophy and its severity play a huge role in how an individual is managed. It comprises appropriate clinical oversight and symptomatic care. The therapy of individuals with muscular dystrophy requires a multidisciplinary team since they often exhibit a variety of clinical symptoms, including musculoskeletal, neurological, cardiovascular, pulmonary, and gastrointestinal issues. The medical expert who organises clinical treatment should actively involve the patient and their family in the process.
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4. Advanced physiotherapy intervention for muscular dystrophy
Supportive physiotherapy is one of the strategies used to delay contractures and extend ambulation. It also plays an important role in the rehabilitation management of individuals with muscular dystrophy as these individuals are associated with several clinical manifestations depending upon the type of muscular dystrophy, they are suffering such as Musculo skeletal weakness, respiratory insufficiency, cardiac complications, gastrointestinal manifestations. This intervention’s major objective is to keep unaffected muscle groups functioning as long as possible. Although exercise helps maintain muscle function, it can also increase the breakdown of muscle fibres. Depending on the severity of the condition, a customized exercise routine combined with advice from the rehabilitation team may enable them to live longer, more actively and independently thus improving their quality of life [15].
Stages of progression of Muscular dystrophy can be categorised simply into ambulatory and non-ambulatory stages. The further categorisation may also include pre-symptomatic, early and late ambulatory stages and early and late non-ambulatory stages.
In the early ambulatory and presymptomatic stages, Education, prevention strategies to keep muscles extensible, and contracture minimization. encouragement of proper activity and exercise. The provision of adaptable devices is crucial in supporting participation and function. when ambulatory and non-ambulatory stages are late. To enable maximum independence in everyday activities, function, and participation, it is helpful to provide an adequate wheelchair and seating as well as use assistive equipment and adaptations [16].
4.1 Muscle extensibility and joint mobility training
Due to abnormal muscle function, which results in restricted joint movement, muscle imbalance, prolonged static positioning, muscle imbalance, and fibrotic alterations in the muscle, people with muscular dystrophy have decreased muscle extensibility and joint contractures. The mobility of the chest wall is also impacted by this type of alteration, which causes breathing issues. Regular stretching of the ankle, knee, and hip should begin soon after a diagnosis and continue until adulthood.
Stretching of the upper extremities is essential in non-ambulatory stages. Under the supervision of physical and occupational therapists, a daily preventative home stretching plan should be initiated before the loss of passive ranges of motion.
Active stretching, active-assisted stretching, passive stretching, and long-term stretching using positioning, splinting, orthoses, and standing devices are all necessary for effective stretching of the musculotendinous unit. Standing programmes are advised as standing and walking become more challenging. Along with stretching techniques in order to prevent joint contractures use of manual therapy techniques, splinting, orthotic interventions, and serial casting are needed [17, 18]
4.2 Muscle strength and conditioning
Most of the muscular dystrophy subjects will have reduced muscle activity and increased fatigue as the disease progress gradually [12, 19].
For people with muscular dystrophy who are in the early ambulatory to early non-ambulatory stages of the disease, physiotherapists may advise gentle low-impact aerobic exercises that improve cardiovascular performance, increase muscle efficiency, and lessen fatigue. They may also advise aerobic exercises combined with supervised sub-maximal strength training programmes. If it is deemed medically safe, it may occasionally be extended until the late non-ambulatory periods. Supra-maximal and high-intensity exercises should be avoided because of the modest risk of exercise-induced muscle damage, myoglobinuria, and later overwork weakness due to the muscle degradation associated with muscular dystrophy.
Aerobic activities with a sub-maximal intensity of 60%–80% of the Target heart rate for 4 days/week can be trained. Mostly stationary bicycling and swimming and arm ergometers are preferable to treadmills. Strength training at a low intensity of less than 50% of individual 1 repetition Maximum and 10 repetitions each set with 3–5 sessions per day. Gradually increase the percentage of 1RM as tolerated over a period of weeks to months. Ensure that an adequate resting period between each session for 2–3 days is advisable to decrease the metabolic damage in muscular dystrophy.
The symptoms of exhaustion and myoglobinuria, which include feeling weaker rather than stronger 30 min after exercise, excessive muscle soreness 24–48 h later, severe muscle cramping, heaviness in the limbs, and significant shortness of breath, should be explained as muscular dystrophy patients participating in an exercise programme.
4.3 Fall prevention strategies
Muscular dystrophy subjects are more prone to falls due to the factors like muscle weakness, muscle imbalances, gait abnormalities and improper balance. Most of the falls occurring in the ambulatory stages are due to extrinsic factors such as slippery floors and objects on the floor acting as obstacles during ambulation.
In order to avoid falling the use of assistive and adaptive devices, such as orthoses, braces, canes, walkers, and hand splints, as well as home and environmental modifications are required. Sedentary behaviour should be minimised [20].
Possible modifications at home such as removing obstacles (toys, rugs, cords etc), and resting in a chair for home tasks instead of standing for prolonged periods help in fatigue management. Providing a handrail for stair climbing is needed. Learning Safe transfer techniques while using wheelchairs and other mobility devices under the supervision of the therapists. Floor modifications in the home by using non-slippery mats, non-slip treads for steps, Adaptive equipment for bathing, and Assistance of handrails or bars during sitting and standing in the washroom is necessary. Educating self-care strategies to patients such as taking frequent rest breaks while going for long walks, playing, and doing any kind of physical activity. Planning a head of activities is also useful to avoid the stress of rushing to prevent the risk of falls [16].
4.4 Assistive devices and technology
4.4.1 In musculoskeletal management
In order to manage Musculo skeletal issues orthoses play an important role in the prevention of contractures, for joint positioning and standing programmes. In the late ambulatory and early non-ambulatory stages, customized Ankle-foot-orthoses and Knee ankle foot orthoses in accordance with the individual needs and comfort are help full in training standing programmes and assisting in ambulation for therapeutic purposes. Patients with tight long finger flexors should consider resting hand splints.
If contractures are not too severe and restrict positioning, standing aids such as passive standing devices and power standing wheelchairs are taken into consideration in the late ambulatory and early non-ambulatory periods.
4.4.2 In functional training
Functional training includes the assessment of activities of daily living and the need for adaptive equipment or assistive technology.
During the ambulation phase, mostly functional activity is preserved by avoiding a sedentary lifestyle and recommended exercises, and assistive devices are not indicated as they limit certain compensatory movements needed for effective ambulation and they also add difficulty by adding weight to the extremities. Sometimes people need knee ankle foot orthosis with a locked knee to prolong their ambulation phase.
In the early ambulatory stage for long-distance mobility, a lightweight mobility device is necessary. In the late ambulatory stages, an ultra-lightweight manual wheelchair with a solid seat and back rest and footrest are necessary to maintain the spinal symmetry and alignment of the lower extremities.
In the early non-ambulatory stage manual wheelchair with customized seating and recline features is necessary. later in the late non-ambulatory stage, it can be replaced by a powered wheelchair.
As the disease advances, a wheelchair with specialised seating and power positioning components is increasingly required. These components include headrests, solid seats, back and lateral supports, power-adjustable seat height, power-elevating leg rests, pressure-relieving cushions, hip guides, and flip-down knee adductors.
As upper-extremity strength drops in the non-ambulatory phase, rehabilitation assistive technology is required for the evaluation of alternative computer or environment control access, such as a tongue-touch control system, switch scanning, infrared pointing, or eye-gaze selection. Additionally, bathing and bathroom equipment, transfer devices, such as a hydraulic patient lift, ceiling lift (hoist), slide sheets, and environmental control options are all included in the rehabilitation management in the late and non-ambulatory phases of the disease [17].
4.5 Bed mobility exercises
As the progression of diseases, the proper assessment of the musculoskeletal system by the physiotherapist will help to plan for the bed mobility exercise and safe transfer. In the early stage, encourage the subjects to utilize maximal muscle activity and reduce the assisted mobility device utilization. In the late non-ambulatory stages assistive devices are helpful in managing bedridden individuals [21].
4.6 Respiratory muscle training
Baseline pulmonary function tests on all patients with Muscular dystrophy are necessary for the initial phases. Patients should be monitored regularly if they have abnormal baseline pulmonary function test results or any combination of severe proximal weakness, kyphoscoliosis, wheelchair dependence, or comorbid conditions that may affect ventilation.
Subjects with little activity and prolonged sitting or lying positions will lead to decreased chest mobility and diaphragmatic excursion. Respiratory muscles are also involved in the progression of diseases which lead to reduced pulmonary capacity and increased pulmonary complication. Training the subjects initially in the ambulatory phase with Proper positioning and relaxation techniques along with breathing exercises can help them to improve chest mobility and pulmonary capacity [7].
4.7 Swallowing exercise
In muscular dystrophy, the pharyngeal muscles also get involved and lead to swallowing difficulty. A thorough examination is done before the exercise and swallowing exercises are taught to them which will be highly beneficial along with the speech therapist training. Biofeedback stimulation can also be useful to stimulate the pharyngeal muscles to be more active [14].
4.8 Pain management
Muscular dystrophies can cause a variety of pains of varied kinds and intensities. Accurately identifying the reason is necessary for effective pain therapy, which may also include careful team management. There may be a need for pharmaceutical therapies, orthotic intervention, physical therapy, adapted equipment, assistive technology, and postural correction. To put an emphasis on the prevention and management of pain and to maximise pleasant function and movement with the transfer, bathing, and toileting equipment, adaptive equipment and assistive technologies should be used. On motorised wheelchairs and beds, power-positioning components that provide postural support and change, weight transfer, and pressure relief can be used as needed to preserve skin integrity and provide pain relief or prevention (Table 1) [22, 23, 24, 25, 26, 27, 28, 29, 30].
| At diagnosis | Evaluate the type of congenital muscular dystrophy, along with other systems of the body Monitor The skeletal system and any other Skeletal abnormalities. | |
| Early ambulatory stage | Contracture management: Stretching, Orthoses, Standing, Assistive devices. Early intervention exercises and exercises to strengthen the musculature. | |
| Late ambulatory stage | Therapies to increase range of motion, oedema and swelling:(Hydro kinesiotherapy), Promotion of ADLS, Training of use of assistive technology and Use of customized powered wheelchairs. | |
| Non-ambulatory stage | Pain management, use of assistive technology. | |
| At diagnosis | Multi-disciplinary rehabilitative assessment. | |
| Early ambulatory stage | Prevention of contracture and deformity: stretching of structures at risk of contracture, orthotic intervention, splinting, casting, positioning and use of equipment, Regular sub maximal, aerobic activity or exercise. | |
| Late ambulatory stage | Falls, fracture prevention and management with the help of supportive types of equipment for standing and walking. | |
| Non-ambulatory stage | Use of assistive technology and adaptive equipment and pain management | |
| At diagnosis | Multi-disciplinary rehabilitative assessment. | |
| Early ambulatory stage | Contracture management: to promote mobility, cramps and fatigue. Exercises such as endurance training help to maintain daily activities, aerobic and resistive training | |
| Late ambulatory stage | Use of supportive equipment for ambulation | |
| Non-ambulatory stage | Use of assistive and adaptive devices | |
| At diagnosis | Evaluate the limb muscle weakness in the elbow, neck and spine and early joint contractures. | |
| Early ambulatory stage | Stretching exercises to promote mobility and prevent contractures | |
| Late ambulatory stage | Mechanical aids such as canes, walkers and wheelchairs to help with ambulation | |
| Non-ambulatory stage | Use of assistive and adaptive devices. | |
| At diagnosis | Evaluate the proximal musculature in the shoulder and pelvic girdles and in some cases, involvement of distal muscles is also seen. Evaluation of spinal abnormalities and limb contractures is also a must. | |
| Early ambulatory stage | Contracture prevention with the help of stretching and splinting orthoses in order to maximise functional ability. Gentle exercise within comfortable limits and the avoidance of prolonged immobility. | |
| Late ambulatory stage | Fall and fracture prevention strategies, Cardiorespiratory management. | |
| Non-ambulatory stage | Use of assistive and adaptive equipment | |
| At diagnosis | Evaluate the overhead activities along with Fascial and shoulder girdle muscles and in some cases, it may affect the extraocular, pharyngeal, lingual, abdominal and lower extremities, Hence assessing these sections is also necessary. | |
| Early ambulatory stage | Flexibility training includes stretching and range of motion exercises, moderate-intensity resistive strengthening exercises moderate-intensity aerobic training programs | |
| Late ambulatory stage | In the cases where lower extremities are affected use of braces and orthoses for the support of ambulation is required. | |
| Non-ambulatory stage | Use of assisted powered wheelchairs for ambulation, respiratory and swallowing management with the help of respective professionals. | |
| At diagnosis | Evaluate cognition and communication, functional activities, and specific patterns of muscles like fascial muscles, neck hand and distal ankle muscles. | |
| Early ambulatory stage | Exercises such as flexibility, strength training, and cardiovascular and balance training are necessary for children with myotonic dystrophy and should be referred for early intervention exercises to improve fine and motor development, Aquatic therapy and hippotherapy have also proven beneficial. | |
| Late ambulatory stage | Pain and fatigue management, use of orthotics for gait abnormalities, use of canes, walkers, wheelchairs, and powered mobility devices can be used to allow a person to continue to be safe and independent in mobility | |
| Non-ambulatory stage | Use of assistive devices and adaptive equipment for continuing their daily activities. | |
| At diagnosis | Evaluate muscles of the eye and pharynx muscles and swallowing abilities. In some cases, Fascial muscle weakness, and proximal muscle weakness are also seen. | |
| Early ambulatory stage | If there is any neuromuscular involvement of lower limbs, contracture management, and exercises to avoid prolonged immobility are necessary. | |
| Late ambulatory stage | Pain and fatigue management falls and fracture prevention strategies. | |
| Non-ambulatory stage | Use of assistive and adaptive equipment. | |
| Physiotherapy for muscular dystrophy contributes to assessing gross motor, and fine motor skills, gait ambulation, need for adaptive devices. It helps the individuals in physical well-being by contracture management, and doing exercises and also helps the individuals with the usage of supportive equipment. physiotherapy interventions help muscular dystrophy individuals to do their ADLS Independently which increases their self-efficacy and mental well-being. Pain and fatigue management also play an important role in increasing the quality of life of individuals with muscular dystrophy. | ||
Table 1.
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5. Conclusion
Role of Physiotherapist in proper evaluation and early exercise intervention strategy is more important to maintain the general mobility and thereby improving the physical activity in Muscular dystrophy condition. Based on the different types and severity of the muscular dystrophy, prioritized and patient focused intervention will help to prolong the healthy wellbeing of patient with muscular dystrophy.
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