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Increased body weight makes the patient more inactive, and this continues in a vicious cycle [ 83 — 85 ]. Therefore, when it is considered that all of the components required for exercise are relatively affected in NMDs, a reduction in exercise capacity in this disease group is inevitable. Mobility is defined as the movement of the person around self and transition from one position to another in a safe manner; it is a function that should be carefully observed throughout the course of the disease in NMD [ 86 ].
The reason for this is that the progressive weakness of the muscles affects the functional levels of the patients negatively after a while, leading to the defects in mobility activities such as standing up, walking, running, and stair climbing [ 87 ]. In the majority of NMDs, there is a chronic clinical course emerging slowly or progressing with a rapid decline in muscle strength that leads to impaired motor function.
Neuromuscular patients suffer from difficulty in standing up from the ground as clinical signs of weakness of hip extensors, quadriceps, and trunk muscles. The increasingly apparent loss of power in the gluteus maximus and quadriceps muscles leads to an excessively increased lordosis. As the patient tries to stabilize hips in extension, lordosis becomes more pronounced. To expand the area of support while walking, the patient walks like a duck Trendelenburg gait [ 88 ]. Fracture contracture is seen in hip joint with the loss of strength in hip extensor and the lumbar lordosis is increased so that the upright posture can be sustained and the loss of strength can be compensated.
However, the progression of the loss of strength in the muscles of the pelvic girth causes the knee flexion contracture to develop [ 39 ].
The weakness of the hip flexor and the eccentric muscle reduces the length of stride. The weakness of the knee extensor reduces the knee flexion moment in the midstance phase. Contractures may lead to postural disorders such as kyphoscoliosis and scoliosis, which can interfere with the continuation of sitting and lying activities, and as a result, pain.
Furthermore, ortheses that help maintain the force, which reduce the development of contractures and deformities, and surgical medical procedures lead to additional disorders [ 89 ].
This makes the patients dependent during their daily life activities. Even in normal individuals, being ill affects a person psychologically. In a condition such as that of neuromuscular patients where the disease is chronic and has many symptoms, this can make one feel more vulnerable.
While some of the patients may cope with the problems associated with the illness and adapt to the social life, some of them respond to these problems with limitations in school, social life, and daily activities.
For example, of two patients with muscular diseases with the same mobility level and the same severity of pain, one may continue to work while the other may quit or even show severe depression. It has been shown in the literature that mobility transfers and walking , which is one of the parameters of social participation, housekeeping, community life, education, work, and leisure activities were affected in NMD [ 91 ].
Biomechanical problems present in NMDs lead to participation problems as a result of the increased energy expenditure levels and fatigue [ 92 ]. According to ICF, falling affects participation by deterioration of the affected body structure and body functions [ 21 ]. Falling often has a complex form; it is defined as lying on the ground or at a lower level by accident, except conscious positional change for resting on seats, walls, or other objects, and is affected by multiple factors [ 93 — 96 ].
There are different descriptions, such as intrinsic and extrinsic factors, associated with the risk factors of falling [ 94 , 95 ]. Prevention and reduction of falling have a positive effect on the patient’s activity and participation level [ ]. Participation problems are encountered as a result of the interaction of environmental factors experienced.
As the disabilities and difficulties start to be permanent in a patient’s life, the patient may lose hope completely.
Such people remove themselves from activities and social life, and face many problems including depression as a consequence [ , ]. Hopelessness, the thought that no one can help them, is a common feeling for neuromuscular patients [ ].
In a study of 88 male patients with progressive musculoskeletal dystrophy, it was found that patients had problems in participating in private life and professional life and that more than half of the cases considered themselves to be socially isolated [ ].
In his work to assess participation in myotonic dystrophies, Gagnon noted that the participation problems of these patients were about communication, personal care, and interpersonal relationships [ ].
In NMD, the restriction of participation occurs in professional life, leisure activities, home, family, community, and social life [ ]. Deterioration of interpersonal interaction and relationships is another reason for the restriction of participation. Sometimes, this restriction can lead to extreme consequences such as no communication with people or not being able to eat or drink in public.
Participation in the community and social life can also decrease due to depression and fatigue. The psychological burden of having a degenerative and terminal illness affects the participation of the individual.
The presence of each of these factors has significant adverse effects on the quality of life [ ]. Nowadays, the key to planning a good rehabilitation program is to know the characteristics of the disease and the problems it will cause in the patient, and to evaluate the patient in detail in light of these features.
In NMDs, evaluation is performed to monitor the progression of the disease, to determine the appropriate treatment methods, to investigate the efficacy of treatment methods, and to predict and prevent possible complications.
Some evaluation methods are used, in which the disorders of the body structure and function, and the limitations of activity and participation are evaluated. These methods include evaluation of respiratory functions, muscle testing, normal joint movement, evaluation of flexibility, evaluation of motor functions and functional capacities, timed performance tests, functional posture, and gait analysis. Due to the diversity of neuromuscular diseases, it is crucial to determine the pattern or spatial distribution of weakness in the evaluation of muscular weakness to distinguish the etiology.
It should be determined whether the loss of strength is general e. The presence of the weakness predominantly in the proximal muscle groups or the dominance in the distal muscles, its presence on one or both sides of the body, and impairment in a single nerve or a group of nerves reflect the pattern of weakness [ 70 ]. In the case of huge weakness, it is determined whether the loss of function is proximal or distal, and which functional activities are limited by muscle weakness [ ].
If the patient is having difficulty in standing up around the hips or combing the hair around the shoulders , it indicates proximal muscle weakness, commonly observed among the weaknesses in myopathic diseases. If the weakness is pronounced around the hip, there are difficulties in getting up and down the stairs, standing up from the chair or toilet, or standing up from the ground or squatting position.
If there is a weakness in the shoulder, there are many functional difficulties such as lifting heavy objects, reaching to and taking the objects on high shelves, brushing teeth, bathing, dressing, and combing the hair [ — ]. However, some myopathies cause distal weakness. This pattern usually cannot be diagnosed and diagnostic errors are possible in relation to the neurogenic feature.
The types of myopathic diseases with this atypical distal phenotype are known as distal myopathies and include MD and inclusion body myositis [ — ].
In less frequent cases of distal myopathies and neuropathies, patients complain of distal upper extremity weaknesses that cause difficulty in activities such as opening jars, buttoning, turning the key, and turning the door handle. Patients experience difficulties standing on toes m. Methods such as manual muscle testing, dynamometric evaluation, isokinetic eccentric and concentric evaluation, and surface electromyography EMG are used in the clinical evaluation of muscle strength, but manual muscle test MMT is the most commonly used method because of its easy application in clinical practice.
Static and isometric contractions of the muscles are also measured with cable tensiometers or dynamometers. These measurements are superior methods because they provide numerical data in NMD, are objective, and reflect changes in muscular strength [ ].
However, manual muscle strength measurements remain valid today because of the low reliability of dynamometric measures in muscle groups that cannot complete their movements against the gravity or distal muscle groups [ , ]. Also, the physiotherapist should consider the time and quality of contraction, the range of motion ROM of the joint, and patient’s ability to maintain contractions.
Another method is to find the maximum weight that a person can lift at once. For this purpose, isokinetic instruments have been developed that measure the maximum force at the specified speed in NMDs. These tools give information about both concentric and eccentric contraction. Studies have shown that it is reliable in good unipolar joints, especially elbows and knees. The use of these instruments is somewhat reliable because it is difficult to isolate the shoulder, wrist, and ankle muscles while measuring their strengths during particular movements.
It is stated that it is more suitable to perform the force measurement using hand dynamometers providing better stabilization in these joints [ ]. Since there is the loss of muscle fibers in the intrinsic muscle tissue, contractures due to necrosis and fibrosis of the muscle fibers in NMDs, biomechanical analysis of the movement, and normal joint range of the motion and flexibility should be assessed for tracking the disease progression.
The range of motion of the joint is monitored objectively by goniometric measurements at regular intervals [ ]. The active and passive normal range of the motion should certainly be assessed. The physiotherapist should consider this situation in the treatment program [ 22 ]. There are some tests evaluating motor function in NMDs.
It was indicated that this is a scale, which evaluates the severity of motor impairment in the NMD group with good psychometric properties. It was indicated that, other scales, MFM is adapted to the severity of deficits at every level in patients who can or cannot walk and that it evaluates all of the head, trunk, lower, and upper extremities [ ]. Some of these tests are specific to the disease, while others focus only on one area of the body.
The timed and controlled tests of the subsequent tests applied to the patient, evaluating the patient’s ability to perform a specific activity in a specific time interval. There are no average values for the timed performance tests. The results are interpreted by comparing the clinical findings with the subsequent tests administered to the patient. Two different methods are used in fatigue evaluations: electrophysiological tests and scales. Since electrophysiological tests are expensive, scales are more commonly used in clinics.
While each of these tests has its advantages and disadvantages and is used in a large population of patients, none of the tests have been specifically developed for neuromuscular patients.
Cardiopulmonary exercise tests are the evaluation of respiratory muscle strength, thoracic environment measurements, and assessment of respiratory frequency. In the literature, the recommendations on which respiratory evaluation should frequently be done in neuromuscular disease are given in Table 2 [ ]. Symptoms of heart disease seen in NMDs depend on the severity of skeletal muscle insufficiency and the severity and type of effect.
The degree of neuromuscular insufficiency may modulate the symptoms of heart involvement and over time and may sometimes suppress these symptoms [ ]. Cardiac rhythm, intraventricular state, and ectopic beats can be evaluated noninvasively with ECG [ , ]. In particular, cardiopulmonary exercise tests in individuals with severe neuromuscular disease generally show a decrease in maximal oxygen consumption, a decrease in pulmonary ventilation, a reduction in work capacity, and an elevation of resting heart rate.
These findings reflect respiratory muscle involvement, cardiac decay, and poor physical fitness [ 69 ]. It should be established which of the causing factors of the pain are involved such as muscle imbalance, trigger points, joint tension, and muscle spasm. They are used especially in the evaluation of acute pain and in monitoring the efficacy of applied pain reliever. Multidimensional scales are thought to be useful in certain cases to assess all aspects of pain in chronic pain [ ].
The purpose of evaluating functional capacity is to assess whether or not the maximal or submaximal activities can be performed in nonclinical settings. The ultimate standard to evaluate the person’s aerobic exercise response is maximal increasing cardiopulmonary exercise test [ ]. A suitable cardiopulmonary exercise test allows determining the underlying pathophysiological mechanisms.
Functional capacity is assessed by maximal cardiopulmonary exercise tests, motorized treadmill, and stationary bicycle ergometer. The ability to walk at a specified distance is a quick, simple, and inexpensive way to evaluate physical function.
Walking is also a critical important component of the quality of life because it is highly necessary to accomplish the daily life activities and reflects patient’s capacity [ , ]. In clinical practice, the activity and participation problems are also encountered as a result of disorders seen in body structure and function in neuromuscular diseases according to ICF.
However, walking emerges as a function related to all of ICF subparameters body structure and functions, activity, participation, personal and environmental factors. Functional mobility, bed mobility, transfer, transfer grounds, gait, and wheelchair should be evaluated.
The physiotherapist should assess the level of effort to initiate movement, weight transfer, postural alignment, motion timing and motion completion, patient balance, support surface, walking assistance, and energy expenditure level [ 22 ].
The Rivearmed Mobility index is also used in mobility analysis [ ]. Some parameters and assessments may be used to analyze the gait. The evaluation should be advanced to investigate possible causes in case of detection of a possible impairment in these standards [ ]. Thomas Risk Assessment Tool may be used for the evaluation of falling in neuromuscular diseases [ — ].
However, there is no specific cutoff value for NMDs in these tests. Functional level deteriorates due to progressive muscle weakness in NMD, and dependence in ADL increases, while the tests such as Barthel, Katz, and Lawton are used for clinical evaluation of ADL in neurological patients [ ].
The advantage of FIM is that it has proven validity and reliability in evaluating many diseases and that it was found highly reliable by practitioners even when implemented by specialists with varying education and experience [ ].
In neuromuscular diseases with sensory involvement, especially in peripheral neuropathy, there is a need for frequent sensory evaluation. Although there have been some promising studies recently, there is no known curative approach to NMD. Physiotherapy and rehabilitation programs are gaining importance to maintain muscle strength, functional capacity, and quality of life as long as possible and to keep the patient in social life [ ]. The lack of therapeutic approaches that can curb the progression of the disease in a large proportion of neuromuscular diseases increases the importance of preventive, supportive, compensatory, and rehabilitative approaches.
The aim of physiotherapy rehabilitation approaches is to improve the quality of life of patients and their families. Applications in that direction are to delay muscle weakness or loss of strength, to prevent muscle shortness and distortion in joints, to prevent respiratory problems, to maintain the walking activity for as long as possible, to educate the family, to support and keep the function at different stages of the disease, and to increase functional capacity [ ].
The rehabilitation program should include the protection of the functional level of the patient and the physical and psychological functions, increasing the physical and mental capacity of the patient, and slowing the progress of the disease symptoms.
Patients have a significant number of clinical problems, so rehabilitation should be done with a multidisciplinary team. The effectiveness of the rehabilitation program to be administered in NMDs depends on the ability of physiotherapists to assess and analyze the main causes of the patient’s problems [ 22 ].
As a prominent member of the rehabilitation team, the physiotherapists who will evaluate and implement the rehabilitation in NMD should be specialized for this group of patients and should be able to individualize the rehabilitation program. The physiotherapist should be able to identify the needs of NMD and be able to individualize the treatment program based on needs.
The physiotherapist should have knowledge about the pathophysiology of the disorders in the patient and about the progression of the disease. The rehabilitation program should include the muscle strength preservation, an exercise program for the prevention of contractures, increasing in respiratory function, increasing the functional aerobic capacity, walking and balance training, fall prevention and the stages of deciding walking aids, nutrition expert support, psychosocial approach, vocational counseling, and ergotherapy processes.
Many international researchers agree on the use of exercise therapy in neuromuscular diseases. There are many physical and psychological benefits of exercise such as muscle strength preservation, prevention of contractures, increased flexibility, reduced energy expenditure, relieving fatigue, reducing pain, depression, social isolation and loneliness, ensuring the participation of the individual active life, sustaining mobility, and increasing the quality of life.
However, the number of studies with a high level of evidence about type, intensity, frequency, and speed of the exercise is limited. When deciding on a possible exercise program, the pathophysiology, onset, severity and the progression of the disease, the age and sex of the patient, and the intensity and frequency of the exercise to be given should be considered [ ]. In general, there is a consensus on the positive effects of mild to moderate exercise programs on muscular strength without causing significant muscle damage, particularly in the early stages of neuromuscular disease with moderate progress when the muscle strength was not severely affected [ ].
The static stretching, which is usually used for treatment in NMDs, is performed by proper alignment of the joint and bringing the muscle to its maximum length along the joint during stabilization of the unmovement joints. When the movement reaches the end, the position is held for at least 10 s and repeated. Although healthy individuals are recommended to make one to two repetitions a day or three to seven repetitions per week regarding the frequency of stretching, there is no definite information for neuromuscular patients.
Daily stretching exercises are recommended. It has been reported that ROM increases with stretching frequency and the improvement was maintained for 4 weeks after the exercise ends [ ]. Resting splints can be used during sleep to prevent contractures. When bed confinement has developed, lower extremities can be stretched using the body weight with standing table [ ].
Strength training can be done with resistance exercises. Resistance exercise training is one of the most effective ways to improve the functional capacity of the neuromuscular system. However, the potential benefits and risks of strength training in neuromuscular diseases are still a controversial subject in the literature. Progressive strengthening exercises are also commonly used to increase muscle strength in neuromuscular diseases [ ].
Progressive strengthening exercises improve lean body mass, muscle protein mass, contractile strength, strength, and physical function. This improvement varies according to the rate of progression of the disease.
Strengthening principles applied especially in healthy muscles should be used carefully here. The level of intensity and resistance, which is above the patient’s muscle strength, strain the patient, and cause muscle fatigue, should be avoided.
The patient should be recommended to do the exercises in parts during the day so as not to cause fatigue. The intensity and resistance of exercise should be revised if the patient experiences pain, muscle spasms, fasciculations, and excessive fatigue after exercises [ ]. Electrical stimulation commonly used in the clinic for strengthening should also be used with caution in NMDs. Since all muscle fibers contract at the same time with electrical stimulation, it can increase degeneration in patients with low muscle fiber counts.
For this reason, patients with muscle strength below three should use current types that will not cause fatigue [ ]. The water lift supports weakened muscles, permits functional movement, and in some cases can also be used as a resistance exercise. Pool exercises treat all muscle groups and maximize the aerobic capacity of the patient.
It is particularly effective in a group of patients with limited energy levels. It is recommended in the literature to apply 45 min twice a week. Limitations of pool therapy are lack of accessibility and insurance payment [ ]. Aerobic endurance training generates physiological responses that are different from strength training.
Aerobic training causes stimulation in the heart, the peripheral circulation, and the musculoskeletal system. As a result, circulation of more oxygen in the body leads to an increase in cardiac output, capillary density, and vascular transmission. For this benefit, aerobic exercises such as swimming, walking, and cycling can be performed, which put fewer burdens on the musculoskeletal system [ ].
A systematic review by Cup et al. It is stated that the whole program lasting at least 10 weeks for both muscle strengthening and aerobic exercises and regular physical therapist supervision increases the effectiveness and improves the safety and suitability of the exercise [ ]. In the literature, it is indicated that the aerobic exercise training in conjunction with muscle strengthening exercises is effective at evidence level of 2 or 3, especially in muscle diseases and neuromuscular patients with heterogeneous features [ ].
The activity of coming to sitting position from the supine position is an important activity of the body against the gravity and is one of the first stages of mobility. During this activity, which is very important for muscle patients also, the anterior trunk muscles contract concentrically while the posterior trunk muscles contract eccentrically. The difficulty of the patient in coming to the sitting position should bring into mind the possibility of encountering mobility problems and that the treatment should involve the precautions related to the trunk [ ].
The equilibrium reactions have been tested in patients with isolated muscle weakness, and it was concluded that the muscle weakness is important. In previous studies, it has been shown that balance correction strategies assessed by dynamic posturography can vary depending on body parts where muscle weakness is present. Therefore, the patient maintains the balance based on these sided sensitivities, and the question whether the patients with distal muscle weakness are more distressed in the sagittal plane and those with proximal lower extremity weakness are more distressed in the frontal plane should be answered.
It is thought that this information can also help in the planning of therapeutic interventions. For example, patients with complete proximal weakness are unstable in balance correction strategies associated with the frontal plane; these patients will need a different intervention than those with complete distal weakness and possibly unstable in strategies associated with the sagittal plane [ ]. If there is a coughing weakness in the patient, airway cleaning techniques such as air stacking glossopharyngeal breathing , mechanical, and manual coughing should be applied as soon as possible [ ].
Pulmonary expansion therapy and maximal insufflation therapy mask or mechanically assisted hyperinsufflation increase the forced inspiratory vital capacity. It is reported in the literature that maximum insufflation therapy is important in increasing peak cough flow for neuromuscular patients with vital capacities less than mL [ ].
Manually supported coughing techniques should be continued for maximum expansion. Secretion mobilization can also be provided by a positive expiratory pressure device. With a positive expiratory pressure device, patients breathe freely and breathe against a moderate resistance; air pressure activates secretions, preventing atelectasis. Traditional chest physiotherapy techniques used for airway cleaning should be taught to this patient population. This involves taking the patient to different positions, then clapping on the chest wall, vibrating, and coughing.
However, it should be taken into account that Trendelenburg, lateral recumbent, and prone positions are difficult to tolerate in NMDs [ ]. The assisted coughing device operates according to the principle of vacuum cleaning. Cleansing of strong expiratory flow and secretions is achieved without tracheostomy by applying negative pressure after maximal insufflation with a positive pressure of the oronasal mask.
It is also known to be more effective than aspiration catheters in tracheostomized patients. It is a very vital and efficient device to use in patients using a mechanical ventilator and has reduced coughing ability [ ]. Noninvasive mechanical ventilation devices are employed in later stages of NMDs. Indications for noninvasive mechanical ventilation are shown in Table 3. Indications for noninvasive ventilation in neuromuscular diseases [ ].
The mechanism of pain has not been identified in detail in neuromuscular patients. There are even contradictory results regarding the increased muscle destruction of the ultrasound and hot application. Physiotherapists should be so cautious in their use.
It is thought that TENS is preferred because it uses different ways of inhibiting pain. In the loss of muscle strength, joint pain can often be associated with improper alignment or excessive stretching of the joint capsule.
Pain relief is possible with proper alignment of the joint and removal of excessive tension. However, since the weakness of each NMD patient is seen in different forms, it should be analyzed well before choosing the appropriate treatment. An external shoulder splint may be utilized for the shoulder pain resulting from shoulder subluxation while an abdominal mattress may be preferred for back pain due to the excessive weakening of the abdominal muscles [ 22 ].
If the patient has a lack of postural control and the arms carry the whole load when the walker is used, this may be considered as a possible cause of pain in the upper extremity. Wheelchair cushions, unsuitable pillows, and the bed should be considered as possible reasons for pain. The preference of a pressure distributing bed is also an important factor in reducing pain in bed dependence [ 22 ]. Mobility target should be determined according to the evaluation and the progression of the disease.
In NMDs, the level of energy expenditure during walking increases [ ]. For this reason, physiotherapists should choose the most appropriate aerobic exercise for the patient; the disease and exercise tolerance should be closely monitored. Physiotherapists should evaluate and recommend ambulatory assistive devices, transfer supports, and orthoses for improved walking, energy conservation, and safety if the patient develops weakness.
However, the use of wrong assistive devices may alter the patient’s optimal gait pattern and may prevent gait function or cause new problems in the patient. It has been shown that walking aids affect stability in a negative way in a group of studies in the literature. It is stated that the reciprocal movements necessary to use the walking aid in these situations are difficult to achieve. Choosing the right walking aid, using the right size, and training with the walking aid can reduce the risk of falling [ ].
Walking aids prevent falls when used safely; it should be kept in mind that they may be the most important reason for falling if misused [ ]. When the falling story is evaluated, the frequency of falls, during which activity the fall occurred, the balance, sense, proprioception, the characteristics of the fall area, and the home environment should be evaluated.
Balance and proprioception training should be given as a result of these evaluations. Recommendations for orthosis can be made by a physiotherapist, an orthotist, or a doctor.
When orthosis advice is given, the desired function, weight, and device tolerance should be considered, and a lightweight material should be used. The articulated orthoses may be granted if the patient has muscular strength to control the dynamic orthosis, fixed orthoses may be given if not. Walking training should be provided with the orthosis given [ 22 ].
It has been shown that there is a negative correlation between manual muscle test results and FIM results in studies performed [ ].
The manual muscle test score of 3 is a critical threshold value. Weakness in the upper extremities causes patients to lose their independence in basic activities of daily living such as dressing, nutrition, and personal hygiene. To be able to perform the activities of daily living independently, the functional capacity of the individual and the environmental conditions necessary to carry out the activity should be able to match fully with each other.
When there is a discrepancy between these two parameters, problems arise which affect the quality of life of the person negatively. These problems can be solved by increasing the functional capacity of the individual, reducing environmental demands, and adapting the environment to the individual [ ].
Neuromuscular patients need different aids at various periods of the disease to be able to perform their daily life activities independently as the disease progresses. Assistive devices include tools designed or modified to increase the functional capacities of persons with disabilities that can be considered in a broad spectrum.
This equipment can range from simple tools such as jar openers, pen holders, electronic environmental control systems, toilet lifts to prevent fatigue, handlebars, forks, and spoons with thickened stalk, and adjustable beds to complex technological tools.
Parallel to the developments in technology, assistive devices are also renewed every day. As the complexity and technology increase, the costs of the assistive devices also increase, making it difficult for patients to obtain these devices.
Appropriate devices prescribed to a neuromuscular patient increase the patient’s quality of life [ , ]. Licensee IntechOpen. This chapter is distributed under the terms of the Creative Commons Attribution 3.
Edited by Toshiaki Suzuki. Impact of this chapter. Abstract Neuromuscular diseases NMDs are a heterogeneous group of diseases that are inherited or acquired, resulting from an abnormality in the anterior horn motor cells, peripheral nerves, neuromuscular junctions, or muscles.
Keywords neuromuscular diseases physiotherapy rehabilitation ICF assessment. Introduction 1. Identification and classification of NMD Neuromuscular diseases NMDs are a heterogeneous group of diseases that are inherited or acquired, resulting from an abnormality in the anterior horn motor cells, peripheral nerves, neuromuscular junctions, or muscles [ 1 ].
Muscular dystrophies 2. Myotonic and relaxation disorders 3. Myopathies 4. Disorder of the neuromuscular transmission 5. Disorder of the motor neurons 6. Neuropathies 1. Congenital muscular dystrophy2. Duchenne muscular dystrophy3. Becker muscular dystrophy4. Facioscapulohumeral dystrophy6. Limb girdle muscular dystrophy7.
Distal myopathy9. Oculopharyngeal muscular dystrophy Myotonic dystrophy type Other muscular dystrophies 1. Paramyotonia congenita4. Familial periodic paralysis5. Other myotonic disorders a. Congenital myopathies 1. Central core disease2. Multiminicore disease3. Nemaline myopathy4. Myotubular b. Myopathy 5. Centronuclear myopathy6. Metabolic myopathies8. Muscle glycogenoses9. Disorders of fatty acid metabolism mitochondrial myopathy c. Inflammatory myopathies Inclusion body myositis Other myopathies 1.
Myasthenia gravis2. Congenital myasthenia3. Other disorders of neuromuscular transmission 1. Amyotrophic lateral sclerosis2. Primary muscular atrophy3. Postpolio syndrome4. Primary lateral sclerosis5. Intermediate spinal muscular atrophy7. Adult spinal muscular atrophy9. Distal spinal muscular atrophy Hereditary spastic paraplegia Other disorders of motor neurons a.
Hereditary 1. Hereditary motor and sensory neuropathy2. Hereditary neuropathy with liability to pressure palsies3. Inflammatory 4. Chronic inflammatory demyelinating polyneuropathy6. Multifocal motor neuropathy7. Neuropathy associated with paraproteinemia9. Neuropathy associated with plasma cell dyscrasia Neuropathy in systemic disease Other neuropathies 7.
Hereditary ataxias and others. Table 1. Loss of strength The progressive loss of strength, severity of which changes depending on the type of the disease, is one of the leading problems that constitute the deficiencies seen in neuromuscular diseases. Postural control and balance problems The strength necessary for the movement of the extremities is generated, collected, and transferred to the upper extremity from the lower extremity by the postural control.
Atrophy In this disease group that proceeds with progressive muscle weakness, the patients become more inactive and sedentary in time because the muscles are the active structures responsible for movement in the body. Pseudohypertrophy Pseudohypertrophy is a false hypertrophy seen in the muscle. Myotonia Clinically, myotonia refers to any condition that prevents the relaxation of the muscles after contraction. Pain Pain is an important problem in most of NMDs, but it is not typically a direct consequence of disease, and now researchers agree that chronic pain is a common symptom that can be seen in all forms of NMDs [ 58 ].
Contracture Joint contractures, subluxations, and dislocations are common problems in NMDs [ 61 , 62 ]. Cardiopulmonary problems Neuromuscular diseases cause respiratory problems mainly due to the inadequacy of the respiratory muscles, namely upper airway muscles mouth and tongue muscles , external intercostal muscles, diaphragm, and abdominal muscles.
Exercise intolerance and the impact on functional capacity Exercise intolerance is a type of abnormally severe tiredness that develops with a certain movement in the muscle involved in that movement. Walking and mobility problems Mobility is defined as the movement of the person around self and transition from one position to another in a safe manner; it is a function that should be carefully observed throughout the course of the disease in NMD [ 86 ].
Psychological and other problems Even in normal individuals, being ill affects a person psychologically. Falling and fear of falling According to ICF, falling affects participation by deterioration of the affected body structure and body functions [ 21 ]. Environmental factors Participation problems are encountered as a result of the interaction of environmental factors experienced.
Psychological factors As the disabilities and difficulties start to be permanent in a patient’s life, the patient may lose hope completely. Assessment of muscle strength Due to the diversity of neuromuscular diseases, it is crucial to determine the pattern or spatial distribution of weakness in the evaluation of muscular weakness to distinguish the etiology. Assessment of range of motion and flexibility Since there is the loss of muscle fibers in the intrinsic muscle tissue, contractures due to necrosis and fibrosis of the muscle fibers in NMDs, biomechanical analysis of the movement, and normal joint range of the motion and flexibility should be assessed for tracking the disease progression.
Assessment of motor function There are some tests evaluating motor function in NMDs. Performance tests The timed and controlled tests of the subsequent tests applied to the patient, evaluating the patient’s ability to perform a specific activity in a specific time interval. Fatigue Two different methods are used in fatigue evaluations: electrophysiological tests and scales.
Table 2. Assessment of cardiac functions Symptoms of heart disease seen in NMDs depend on the severity of skeletal muscle insufficiency and the severity and type of effect.
Assessment of aerobic functional capacity The purpose of evaluating functional capacity is to assess whether or not the maximal or submaximal activities can be performed in nonclinical settings. Assessment of functional mobility and falling In clinical practice, the activity and participation problems are also encountered as a result of disorders seen in body structure and function in neuromuscular diseases according to ICF.
Sensory evaluation In neuromuscular diseases with sensory involvement, especially in peripheral neuropathy, there is a need for frequent sensory evaluation. The characteristics of the physiotherapist present in the rehabilitation team of neuromuscular patients The effectiveness of the rehabilitation program to be administered in NMDs depends on the ability of physiotherapists to assess and analyze the main causes of the patient’s problems [ 22 ].
Preservation of muscle strength and prevention of contractures Many international researchers agree on the use of exercise therapy in neuromuscular diseases. Strength training Strength training can be done with resistance exercises. Aerobic endurance training Aerobic endurance training generates physiological responses that are different from strength training.
Development of postural control The activity of coming to sitting position from the supine position is an important activity of the body against the gravity and is one of the first stages of mobility. Increasing respiratory capacity If there is a coughing weakness in the patient, airway cleaning techniques such as air stacking glossopharyngeal breathing , mechanical, and manual coughing should be applied as soon as possible [ ].
Table 3. Reduction of pain The mechanism of pain has not been identified in detail in neuromuscular patients. Walking and balance training Mobility target should be determined according to the evaluation and the progression of the disease.
Training for the activities of daily living and adaptive approach It has been shown that there is a negative correlation between manual muscle test results and FIM results in studies performed [ ].
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