Physical Therapy for Genetic Disorders

4. Therapeutic Exercise

Therapeutic exercise should be prescribed individually, taking into account muscle strength, fatigability, and cardiac status.

When motor function is preserved, moderate aerobic activities may be used, including walking on level ground, exercising on a stationary bicycle with low resistance, swimming, and water-based exercise.

Cautious low-resistance exercises aimed at maintaining muscle strength may be permitted if they are well tolerated and approved by a specialist.

Gentle stretching of the calf muscles, hip flexors, and other muscle groups prone to shortening is recommended.

Exercises to improve balance, coordination, and stability during walking are beneficial.

Patients must not be pushed to marked muscular exhaustion. Excessive resistance training, intensive eccentric exercise, and exercising through pain should be avoided.

The duration, frequency, and intensity of exercise are selected individually. Muscle pain, weakness, and recovery time should be assessed after exercise.

5. Massage and Device-Based Physical Therapy

In Becker muscular dystrophy, massage may be included in a rehabilitation program when localized muscle discomfort or associated pain is present.

Particular attention should be paid to gentle treatment of overloaded muscle groups, taking into account the degree of weakness and individual tolerance of the procedure.

Gentle techniques without substantial pressure are preferred. Painful kneading, intense vibration, and aggressive manipulation of weakened muscles are undesirable.

Massage does not correct the genetic defect or stop the progression of muscular dystrophy.

TENS may be used for symptomatic pain relief in selected cases; however, disease-specific evidence of effectiveness in Becker muscular dystrophy is insufficient.

The use of NMES should be considered in light of residual muscle function, the degree of fatigability, and the patients functional goals. When selecting stimulation parameters, the specialist must take into account the characteristics of the dystrophic process and the individuals tolerance of the load.

In Becker muscular dystrophy, therapeutic ultrasound, infrared therapy, and magnetic therapy may be considered by a specialist as adjunctive methods for associated symptoms when there are independent indications. Their inclusion in the program depends on individual tolerance, safety, and the anticipated symptomatic benefit; evidence that these procedures influence the progression of dystrophy is insufficient.

6. Orthopedic Rehabilitation

As muscle weakness progresses, the likelihood of restricted joint mobility, gait abnormalities, and contracture development increases.

Regular assessment of the feet, knee and hip joints, spine, and the patients stability is necessary.

Orthoses, walking aids, and devices that facilitate daily activities may be used according to individual indications.

In cases of pronounced weakness, falls should be prevented and the surrounding environment adapted.

When prescribing orthoses, their potential effects on preserved motor function must be considered.

7. Respiratory and Cardiac Rehabilitation

Respiratory disturbances in Becker muscular dystrophy generally develop later and do not occur in all patients. Nevertheless, respiratory function should be monitored as muscle weakness progresses.

Cardiac monitoring is particularly important.

Cardiac follow-up should begin at diagnosis and include electrocardiography (ECG), echocardiography, and, when necessary, cardiac magnetic resonance imaging (MRI). According to GeneReviews recommendations, cardiac assessment is performed annually, or more frequently if myocardial dysfunction is identified, as determined by the cardiologist. If cardiomyopathy develops, medications may be prescribed to treat heart failure and prevent complications. In such cases, physical activity should be coordinated with the cardiologist. Specialized respiratory support methods are used in cases of respiratory failure.

8. Contraindications and Limitations

Rehabilitation planning must take into account the possible combination of muscle weakness, cardiac arrhythmias, and reduced exercise tolerance. Particular caution is required in the presence of cardiomyopathy and arrhythmias. Even when muscle strength is relatively preserved, physical activity may need to be restricted by the cardiologist following cardiac assessment.

The following should be avoided:

High-intensity resistance training and exercise to exhaustion.

Substantial eccentric loading.

Aggressive stretching and painful massage techniques.

Physical exertion in the presence of unstable cardiomyopathy or significant arrhythmias.

Exercise during acute infections, fever, or marked deterioration in general condition.

Device-based procedures without justified indications and a safety assessment.

If chest pain, fainting, severe shortness of breath, or palpitations occur, the activity must be stopped and a medical assessment arranged.

Severe muscle pain, a sudden increase in weakness, or dark urine after exercise requires urgent evaluation to rule out muscle injury.

9. Recommendations for Patients and Family Members

Patients and their families should understand that moderate, regular activity is preferable to either complete avoidance of movement or excessive training.

A home program may include gentle exercises, safe walking, maintenance of joint mobility, and rest periods.

Adequate recovery time after exertion should be observed, and prolonged overexertion should be avoided.

Working-age patients may require workplace adaptations, changes in the nature of physical demands, and ergonomic aids.

Particular attention should be paid to regular cardiac follow-up, even when muscle weakness is mild.

10. Conclusion

Becker muscular dystrophy is characterized by considerable clinical variability and often progresses more slowly than Duchenne muscular dystrophy (see Part I, Chapter 1).

Timely medical rehabilitation helps maintain motor activity, prevent contractures, and preserve independence.

Cardiac monitoring is particularly important because the severity of cardiac involvement does not always correspond to the degree of muscle weakness.

Comprehensive care should involve a neurologist, a rehabilitation physician, a cardiologist, a physical therapist, and other specialists.

The central principle of rehabilitation in Becker muscular dystrophy is to maintain physical activity while balancing the functional benefits of exercise against the safety of the muscular and cardiovascular systems.

Vladimir Maletskyi | 36.6 — 366 Days a Year | Physical Therapy for Genetic Disorders

Chapter 3. Limb-Girdle Muscular Dystrophies (Erb–Roth)

Part I. Hereditary Muscle Diseases

Limb-Girdle Muscular Dystrophies (LGMD)

1. General Characteristics of the Disease Group

Limb-girdle muscular dystrophies are a group of hereditary neuromuscular disorders characterized by progressive weakness primarily affecting the muscles of the shoulder and pelvic girdles.

Historically, some limb-girdle forms were referred to as Erb–Roth muscular dystrophy. Modern classification is based on specific genetic abnormalities.

Numerous LGMD subtypes are known, associated with variants in CAPN3, DYSF, SGCA, FKRP, and other genes. Inheritance may be autosomal recessive or autosomal dominant. Age at symptom onset and rate of progression vary considerably. According to Orphanet, the combined prevalence of limb-girdle muscular dystrophies is estimated at approximately 1 in 44,000–123,000 people. The frequency of individual genetic subtypes varies substantially between populations.

2. Clinical Presentation

The disease may manifest in childhood, adolescence, or adulthood.

The most characteristic difficulties involve climbing stairs, rising from a chair, running, and walking long distances. When the shoulder girdle is affected, patients may have difficulty raising their arms, dressing, and performing everyday activities.

A waddling gait, Gowers sign, scapular winging, muscle atrophy, and joint contractures may be observed. Certain genetic forms may involve the myocardium and respiratory muscles.

Diagnosis includes neurological examination, creatine kinase testing, muscle imaging, and molecular genetic testing. Identification of the subtype is necessary for appropriate planning of monitoring and rehabilitation.

3. Goals of Medical Rehabilitation

The rehabilitation strategy for LGMD is determined primarily by the genetic subtype and the distribution of muscle weakness. For some patients, the priority is maintaining stable walking; for others, it is preserving the ability to raise their arms, dress independently, and perform daily activities. Functional goals are therefore established after assessing shoulder- and pelvic-girdle function and the patients overall condition.

Accordingly, the main goals of medical rehabilitation include:

Preserving mobility of the shoulder and hip joints and preventing contractures;

Maintaining muscular endurance within individual tolerance;

Improving balance and stability during walking;

Preserving upper-limb function and independence in daily activities;

Preventing falls.

4. Therapeutic Exercise

Therapeutic exercise is the foundation of the rehabilitation program.

When independent mobility is preserved, the specialist may include stationary cycling with minimal resistance, graded walking, and pool-based exercise. Particular attention is given to pelvic-girdle stability, trunk control, and preservation of upper-limb function. Exercise must take into account possible asymmetry of muscle weakness and differences between genetic subtypes of the disease.

Exercises for the shoulder- and pelvic-girdle muscles, maintenance of joint range of motion, and balance training are important.

Stretching should be performed gently and without pain. Excessive eccentric loading, training to exhaustion, and exercises causing marked muscle soreness should be avoided.

After each session, fatigue, muscle pain, and recovery of motor function are assessed.

5. Massage and Physical Therapy Modalities

In limb-girdle muscular dystrophies, the choice of massage technique depends on the distribution of muscle weakness and the condition of the shoulder and pelvic girdles. The specialist assesses tenderness, restricted movement, and compensatory overuse of individual muscle groups before deciding whether gentle manual techniques are appropriate.

Gentle techniques without intensive kneading or painful pressure on weakened muscles are preferred.

TENS may be used for selected pain syndromes but does not affect the genetic mechanism of the disease.

The potential use of NMES depends on the genetic subtype of LGMD and the pattern of muscle involvement. The method requires careful selection of parameters and assessment of the patients response, because evidence of its effectiveness in different forms of limb-girdle dystrophy is limited.

Therapeutic ultrasound and infrared therapy may be considered adjunctive physical therapy modalities when concomitant pain syndromes and muscle discomfort are present. Their use is primarily directed toward symptomatic goals, improving patient comfort, and increasing tolerance of rehabilitation interventions.

Magnetotherapy (PEMF) may also be considered an adjunct within a comprehensive rehabilitation program. The specialist makes an individual decision based on the patients clinical condition, potential contraindications, and the limited scientific evidence for the effectiveness of this method specifically in LGMD.

A rational combination of therapeutic exercise, massage, and additional device-based modalities allows the rehabilitation program to be individualized according to the patients functional capabilities. The choice of each intervention should be based on specific therapeutic goals and its anticipated clinical benefit.

6. Orthopedic Rehabilitation

As the disease progresses, joint contractures, postural abnormalities, gait instability, and reduced mobility may develop.

Regular assessment of joint mobility and gait analysis are necessary.

The choice of orthopedic aids in LGMD depends on whether pelvic- or shoulder-girdle muscle involvement predominates. In patients with lower-limb weakness, the specialist selects orthoses and walking aids to compensate for gait impairment and reduce the risk of falls. With marked shoulder-girdle involvement, the patients ability to perform manual tasks independently and use adaptive devices for daily living must be assessed. If mobility is substantially reduced, an individually fitted wheelchair and positioning aids are considered.

Particular attention should be given to fall prevention and maintaining safe activity.

7. Respiratory and Cardiac Rehabilitation

Some genetic subtypes of LGMD are associated with cardiomyopathy, cardiac rhythm disturbances, and respiratory muscle weakness.

Cardiac and respiratory monitoring is therefore determined according to the identified genetic variant.

When indicated, assessments include ECG, echocardiography, pulmonary function testing, and other examinations.

When cough effectiveness decreases, respiratory support techniques may be used; in respiratory failure, noninvasive ventilation may be required.

Physical activity is adjusted if cardiopulmonary complications are identified.

8. Contraindications and Limitations

Rehabilitation planning must take into account the genetic subtype, degree of muscle weakness, and risk of muscle fiber damage. In certain genetic forms of LGMD, particularly some dysferlinopathies, intense physical exertion may be accompanied by substantial muscle damage. The specialist should therefore consider the genetic diagnosis, muscle enzyme levels when indicated, and the patients response to previous sessions.

The following should be avoided:

High-intensity training to exhaustion;

Excessive eccentric loading;

Aggressive stretching and painful deep massage;

Exercises with a high risk of falling;

Exertion in the presence of unstable cardiopulmonary disorders;

Unjustified use of device-based physical therapy modalities.

The onset of sudden weakness, prolonged muscle pain, severe shortness of breath, or dark urine after physical exertion requires discontinuation of exercise and medical evaluation.

9.Recommendations for Patients and Family Members

Patients should be informed about the importance of regular but appropriately graded physical activity.

A home program may include gentle joint mobility exercises, safe walking, balance exercises, and rest periods.

Physical overload should be avoided, and the home environment should be adapted in a timely manner if independence decreases.

The specialist teaches family members safe ways to assist with rising from a chair, transferring from bed, and negotiating obstacles at home. In cases of marked shoulder-girdle weakness, particular attention is given to preserving independence in dressing, eating, and performing manual activities, using adaptive devices when necessary.

Psychological support, maintenance of social activity, and vocational adaptation are also important.

10. Conclusion

Rehabilitation in limb-girdle muscular dystrophies requires an understanding of the clinical heterogeneity of this group of disorders. Even when muscle weakness appears similar, patients may differ substantially in their rate of progression, tolerance of physical exertion, and risk of cardiorespiratory complications.

Successful specialist care is therefore determined not by the number of prescribed procedures, but by the accuracy of individual assessment, evidence-based selection of methods, and timely adjustment of the rehabilitation program.

Vladimir Maletskyi | 36.6 — 366 Days a Year | Physical Therapy for Genetic Disorders

Chapter 4. Facioscapulohumeral Muscular Dystrophy

(Landouzy–Dejerine)

Part I. Hereditary Muscle Diseases

Facioscapulohumeral Muscular Dystrophy (FSHD)

1. General Characteristics of the Disease

Facioscapulohumeral muscular dystrophy (Landouzy–Dejerine) is a hereditary disorder that primarily affects the muscles of the face, shoulder girdle, and upper limbs. As the disease progresses, the muscles of the trunk and lower limbs may also become involved.

Two main genetic forms are recognized: FSHD1 and FSHD2. Their development is associated with dysregulation of DUX4 gene expression, which causes pathological changes in muscle cells. The more common form, FSHD1, results from a contraction of D4Z4 repeats in a specific region of chromosome 4.

A characteristic feature of the disease is marked variability in clinical manifestations, even among members of the same family. In some patients, motor limitations remain moderate for decades; in others, weakness gradually spreads to additional muscle groups. According to various epidemiological estimates, the prevalence of FSHD is approximately 4–10 cases per 100,000 people. It is among the relatively common forms of hereditary muscular dystrophy, and most diagnosed cases are FSHD1.

2. Clinical Presentation

The first manifestations often occur during adolescence or early adulthood. Patients may find it difficult to whistle, close their eyes tightly, smile, or maintain facial expressions.

Examination frequently reveals scapular winging (winged scapulae), limited ability to raise the arms above shoulder level, and weakness of the muscles that stabilize the scapulae. Muscle involvement is often asymmetric.

When the abdominal and back muscles are affected, posture changes and lumbar lordosis may become more pronounced. Weakness of the ankle dorsiflexors makes walking more difficult and increases the risk of tripping.

Some patients experience chronic pain, increased fatigue, and sleep disturbances. In early-onset disease, hearing impairment and retinal vascular abnormalities may also occur.

The diagnosis is confirmed by specialized molecular genetic testing.

3. Goals of Medical Rehabilitation

In FSHD, rehabilitation focuses primarily on preserving useful movements of the shoulder girdle and the ability to perform activities independently with the hands.

The main goals include maintaining the available range of motion in the shoulder joints, improving scapular positioning and control, preventing compensatory postural abnormalities, and preserving stable gait.

Another focus is reducing the functional consequences of asymmetric weakness. The specialist assesses not only muscle strength but also the patients ability to lift objects, dress, use household items, and perform occupational tasks.

When facial muscles are involved, the adequacy of eye closure, articulation, and other functions affecting everyday life are also assessed.

4. Therapeutic Exercise

The therapeutic exercise program is developed after assessing shoulder mobility, scapular position, trunk muscle strength, and the patients stability.

For the upper limbs, active and active-assisted movements are performed within the available range of motion. Exercises with the forearms supported on a table or sliding surface help reduce the effects of gravity and facilitate arm movement.

Sessions may include exercises for scapular positioning and control, trunk stabilization, and preservation of thoracic spine mobility. It is important not to attempt to correct scapular winging mechanically through excessive resistance training.

For lower-limb weakness, balance exercises, weight-shifting activities, and safe gait training are used. Stationary cycling and pool-based exercise may be included according to the patients motor abilities.

Moderate aerobic activity and individually selected resistance exercises may benefit physical fitness. The specialist assesses not only tolerance during the session but also the preservation of movement quality afterward. Current studies indicate that individually tailored moderate resistance training in FSHD may be well tolerated and help maintain muscle function. However, study findings are heterogeneous, so exercise intensity and effectiveness must be assessed in relation to the degree of muscle involvement and the patients response.

5. Massage and Device-Based Physical Therapy

In FSHD, massage may be used to relieve associated muscle discomfort, particularly in the neck, shoulder region, and back, where compensatory overuse commonly develops.

Treatment must take into account the uneven distribution of muscle involvement. Gentle techniques aimed at relieving tenderness and relaxing overworked areas are preferred.

TENS may be considered for selected pain syndromes. The potential use of NMES is assessed cautiously, taking into account the degree of atrophy and the functional condition of the muscles to be stimulated.

Therapeutic ultrasound, infrared therapy, and magnetotherapy are not disease-specific treatments for FSHD. Their use for associated symptoms may be discussed on an individual basis, but convincing evidence of their effectiveness specifically for this dystrophy is lacking.

When selecting physical therapy modalities, priority is given to a specific functional goal: facilitating movement, reducing pain, or improving tolerance of the core exercise program.

6. Orthopedic Rehabilitation

One of the most characteristic orthopedic problems in FSHD is inadequate scapular stabilization, which limits upper-limb movement.

To assess potential functional benefit, the specialist may perform a manual scapular fixation test, observing how much the range of arm elevation increases.

In selected patients, surgical fixation of the scapula to the chest wall may be considered. This intervention requires specialist assessment because it is not suitable for everyone and may be associated with complications. A key selection criterion is preserved deltoid muscle strength: when the deltoid is markedly weak, scapular fixation does not provide functional improvement.

For ankle dorsiflexor weakness, ankle-foot orthoses are used to reduce the risk of tripping. In cases of postural abnormalities, supportive devices are selected and the workplace is adapted.

Contrary to a common assumption, orthopedic management in FSHD aims not only to prevent deformities but also to improve functional use of the upper limbs.

7. Respiratory and Cardiac Rehabilitation

In most patients, the heart muscle is not a primary site of involvement; therefore, intensive cardiac monitoring without relevant indications is generally unnecessary.

Respiratory failure also does not develop in every patient, but its likelihood increases with marked generalized weakness, postural abnormalities, and substantially reduced mobility.

If shortness of breath, morning headaches, daytime sleepiness, or signs of nocturnal hypoventilation occur, respiratory function should be assessed and the need for respiratory support evaluated.

In severe cases, noninvasive ventilation may be required. Physical activity in such cases is planned jointly with relevant specialists. If cough effectiveness declines, assisted coughing techniques and respiratory physiotherapy may be used, as in other neuromuscular diseases.

8. Contraindications and Limitations

The greatest caution in rehabilitation for patients with FSHD is required with exercises involving prolonged holding of the arms in an elevated position or substantial resistance imposed on the shoulder-girdle muscles.