Advanced Physiotherapy
Advanced Physiotherapy
Advanced Physiotherapy
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Advanced Physiotherapy
Intervention for Muscular
Dystrophy
Saina Swathi, Kandhili Chandrasekaran Gayathri
and Purushothaman Senthil
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 manage-
ment 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 pres-
ent the advanced physiotherapeutic interventions helpful for subjects with muscular
dystrophies, based on the evidence available in the literature.
1. Introduction
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Potential Therapeutic Strategies for Muscular Dystrophy
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, facioscapulo-
humeral 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].
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.
2.2 Dystrophinopathies
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 insuf-
ficiency, decreased cough capacity, respiratory tract infections, and sleep disorder
breathing caused by Obstructive sleep apnea. Congestive heart failure, cardiac insuffi-
ciency, abnormal cardiac conduction, ventricular or supraventricular arrhythmias, and
risk of unexpected early death are all consequences of progressive dilated cardiomyopa-
thy. 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].
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].
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 identi-
fied. The four defining symptoms of EDMD are muscle weakness, early contractures,
abnormal cardiac conduction, and cardiomyopathy, however, the presence and sever-
ity of these manifestations differ by subtype and person [10].
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
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Potential Therapeutic Strategies for Muscular Dystrophy
patterns also include scapula peroneal, humeroperoneal and distal patterns of weak-
ness. Associated issues with this kind of muscular dystrophy are cardiac involvement,
Dysphagia, pulmonary complications and musculoskeletal spinal deformities [12].
There are two different forms of myotonic muscular dystrophies, known as DM1
and DM2, which are autosomal dominant diseases characterised by increasing weaken-
ing, 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].
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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Advanced Physiotherapy Intervention for Muscular Dystrophy
DOI: http://dx.doi.org/10.5772/intechopen.113080
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 effi-
ciency, and lessen fatigue. They may also advise aerobic exercises combined with
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Potential Therapeutic Strategies for Muscular Dystrophy
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 modifi-
cations 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].
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.
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Advanced Physiotherapy Intervention for Muscular Dystrophy
DOI: http://dx.doi.org/10.5772/intechopen.113080
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 effec-
tive 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 wheel-
chair 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 environ-
ment 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].
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
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Potential Therapeutic Strategies for Muscular Dystrophy
phase with Proper positioning and relaxation techniques along with breathing exer-
cises can help them to improve chest mobility and pulmonary capacity [7].
In muscular dystrophy, the pharyngeal muscles also get involved and lead to swal-
lowing 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 pharyn-
geal muscles to be more active [14].
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 tech-
nologies should be used. On motorised wheelchairs and beds, power-positioning
components that provide postural support and change, weight transfer, and pres-
sure relief can be used as needed to preserve skin integrity and provide pain relief or
prevention (Table 1) [22–30].
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.
Late ambulatory stage Falls, fracture prevention and management with the help of supportive
types of equipment for standing and walking.
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Advanced Physiotherapy Intervention for Muscular Dystrophy
DOI: http://dx.doi.org/10.5772/intechopen.113080
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Potential Therapeutic Strategies for Muscular Dystrophy
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 Use of assistive devices and adaptive equipment for continuing their
stage 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.
Late ambulatory stage Pain and fatigue management falls and fracture prevention strategies.
Non-ambulatory Use of assistive and adaptive equipment.
stage
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.
Physiotherapy interventions for types of muscular dystrophy [22–29].
5. Conclusion
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Advanced Physiotherapy Intervention for Muscular Dystrophy
DOI: http://dx.doi.org/10.5772/intechopen.113080
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Potential Therapeutic Strategies for Muscular Dystrophy
References
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