Physical Therapy for Genetic Disorders

Ankle-foot orthoses (AFOs) may be used when foot positioning is impaired during the swing phase of gait. Their design is selected according to the balance between spasticity, muscle weakness, and knee stability.

For substantial walking limitations, canes, walkers, and other mobility aids are used. When mobility is severely reduced, wheelchair provision is considered.

Functional rehabilitation includes training in rising from a chair, turning safely, negotiating thresholds, and transferring between different surfaces.

Established contractures may require orthopedic correction. Decisions about surgery are made after assessing muscle balance, gait characteristics, and the possible impact of the operation on the patient's independence.

7. Rehabilitation for Systemic and Associated Impairments

In complicated forms of HSP, particularly those associated with SPG11, swallowing function should be assessed specifically: clinically significant dysphagia occurs in a substantial proportion of these patients and requires timely assessment by a speech and swallowing specialist and nutritional modification.

Bladder dysfunction is a characteristic associated problem in HSP, manifesting as frequent urination, urgency, or urinary incontinence.

These symptoms require urological assessment. Medication and an individualized bladder-management program are used when indicated.

Baclofen, tizanidine, and other antispastic medications may be used to reduce marked spasticity. Botulinum toxin injections may be considered for focal increases in muscle tone, and intrathecal baclofen for severe generalized spasticity.

Pharmacological reduction of tone requires functional monitoring because excessive muscle relaxation may impair stability.

In complicated HSP, rehabilitation must also take account of ataxia, peripheral neuropathy, speech disorders, and cognitive impairment.

8. Contraindications and Limitations

When rehabilitating patients with HSP, abrupt passive movements and forced stretching of spastic muscles should be avoided.

Exercises performed without support require particular caution in patients with severe balance impairment or a tendency to fall.

Before increasing physical activity, muscle strength, the severity of contractures, and the presence of pain syndromes should be assessed.

Reducing spasticity must not become an end in itself. After botulinum toxin administration or changes in antispastic treatment, the patient's ability to stand and walk must be reassessed.

New, rapidly progressive weakness, substantial sensory disturbance, or sudden worsening of urinary function requires further investigation to exclude another neurological disorder.

9. Recommendations for Patients and Families

Patients are advised to maintain regular physical activity, alternating joint-mobility exercises with functional-skills training.

Particular attention should be paid to safe movement on uneven surfaces, stairs, and in confined spaces.

With marked spasticity, prolonged positioning that encourages the fixation of abnormal limb postures should be avoided.

Family members should help patients retain motor independence rather than routinely taking over activities they can perform themselves.

The treating physician should be informed if frequent urination, painful muscle spasms, or a substantial change in gait occurs.

Genetic counseling is recommended for patients and their relatives, taking account of the identified genetic variant and inheritance pattern.

10. Conclusion

Hereditary spastic paraplegia is a group of genetic disorders in which gradually developing lower-limb spasticity is the predominant motor impairment.

The distinctive challenge of rehabilitation is maintaining a functional balance between reducing pathological muscle tone and preserving the muscle activity needed for independent mobility.

The practical effectiveness of treatment is determined not only by reduced spasticity but, above all, by preservation of safe walking, joint mobility, and the patient's ability to carry out everyday activities.

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

Chapter 10. Friedreich Ataxia

Part II. Hereditary Disorders of the Nervous System

Friedreich Ataxia (FRDA)

1. General Characteristics of the Disease

Friedreich ataxia is a hereditary neurodegenerative disease characterized by progressive impairment of movement coordination and involvement of spinal cord pathways, the peripheral nervous system, and several internal organs.

In most cases, the disease is caused by a pathological expansion of GAA repeats in both copies of the FXN gene on chromosome 9. This results in a deficiency of the protein frataxin and disruption of mitochondrial processes. Inheritance is autosomal recessive.

In countries with predominantly European populations, the prevalence of Friedreich ataxia is estimated at approximately 0.5–1.8 cases per 100,000 people, depending on diagnostic criteria. Rates vary considerably between regions.

The disease usually manifests in childhood or adolescence, although later-onset forms also occur. Progression of motor impairment is often accompanied by cardiac, orthopedic, and endocrine complications.

2. Clinical Presentation

The most characteristic manifestation is progressive ataxia—impaired coordination of movements accompanied by instability when standing and walking.

Gait becomes broad-based and irregular, with side-to-side swaying of the trunk. The patient experiences difficulty turning, changing walking speed, and performing precise motor tasks.

Damage to the posterior columns of the spinal cord and sensory nerve fibers reduces vibration sense and proprioception. As a result, the patient is less able to determine limb position without visual feedback.

As the disease progresses, dysmetria, intention tremor, dysarthria, and reduced precision of hand movements develop. Tendon reflexes in the lower limbs are often absent, although pathological pyramidal signs may persist.

Scoliosis and foot deformities, including pes cavus, are characteristic. Hypertrophic cardiomyopathy, arrhythmias, hearing and swallowing disorders, and disturbances of glucose metabolism may occur.

The diagnosis is confirmed by molecular genetic testing of FXN, including mandatory assessment of GAA repeat expansion.

3. Goals of Medical Rehabilitation

The rehabilitation strategy aims to preserve coordination, functional mobility, and patient independence while simultaneously monitoring systemic complications.

The main objectives include:

improving balance and the precision of voluntary movements;

maintaining the ability to stand, walk, and change body position safely;

preserving upper-limb function;

preventing falls and injuries;

preventing secondary contractures and restrictions of mobility;

adapting everyday activities to progressive ataxia;

maintaining endurance with due regard for cardiovascular status.

Objective monitoring uses the Scale for the Assessment and Rating of Ataxia (SARA), the modified Friedreich Ataxia Rating Scale (mFARS), and functional tests of gait and balance.

Assessment should cover not only the severity of ataxia but also the patient's ability to eat, dress, move about, and use objects independently.

4. Therapeutic Exercise

Motor rehabilitation is based on exercises for coordination, dynamic balance, and trunk postural control.

In the early stages, movements requiring a specified degree of accuracy are used: touching marked targets with the hand or foot, controlled limb movements, and sequential performance of multicomponent motor tasks.

Balance training involves gradual changes in the base of support, direction of movement, and position of the center of gravity. In pronounced sensory ataxia, the patient's reliance on visual feedback for stability must be considered.

For ambulatory patients, exercises include varying step length, negotiating small obstacles, making safe turns, and walking with external visual cues. The level of assistance is determined by fall risk.

When independent walking is lost, rehabilitation focuses on seated postural control, weight shifting, transfers between surfaces, and preservation of functional hand movements.

Low-resistance exercises and graded aerobic activity may be included after cardiac function has been assessed. Session duration is determined by tolerance and movement quality rather than the number of repetitions.

5. Massage and Device-Based Physical Therapy

Massage in Friedreich ataxia may be used to relieve secondary muscular discomfort arising from altered gait, prolonged sitting, or orthopedic deformities.

When proprioception is impaired, massage does not restore the lost mechanism of coordination and must not replace specialized motor training.

TENS may be considered for associated pain syndromes after assessing skin sensation and contraindications.

Neuromuscular electrical stimulation (NMES) is not a standard treatment for ataxia. Its use for specific motor impairments requires individualized functional justification.

Active coordination exercises, balance training, and adaptation of motor skills are of greatest importance in rehabilitation. There is no convincing evidence that therapeutic ultrasound, infrared therapy, or magnetotherapy alters the course of Friedreich ataxia.

6. Orthopedic and Functional Rehabilitation

Scoliosis and foot deformities are common orthopedic complications of Friedreich ataxia.

During growth, the spine should be assessed regularly, since progressive curvature can impair trunk stability, seated posture, and respiratory function.

Individually fitted orthoses and footwear are selected for foot deformities and ankle instability. Their purpose is to provide mechanical support without imposing additional restrictions on movement.

Patients with progressive instability may require walkers and, later, a wheelchair with trunk support and an appropriate seating system.

Functional rehabilitation includes adapting writing instruments, eating utensils, and household devices to accommodate dysmetria and tremor.

When surgical correction of scoliosis is considered, comprehensive preoperative assessment is required, especially of cardiac and respiratory function.

7. Rehabilitation for Systemic and Associated Impairments

Cardiac complications are particularly important in Friedreich ataxia. Hypertrophic cardiomyopathy and rhythm disturbances may limit exercise tolerance.

Cardiology follow-up with ECG and echocardiography is recommended at diagnosis and at least once annually. Cardiac symptoms warrant an additional, unscheduled assessment.

Because of the risk of impaired glucose metabolism, blood glucose and HbA1c should be monitored regularly. If diabetes mellitus is diagnosed, the physical activity program should be coordinated with an endocrinologist.

Dysarthria requires speech and language therapy aimed at improving speech intelligibility and using compensatory communication strategies.

Swallowing disorders are widespread in Friedreich ataxia. In one study, symptoms of dysphagia were reported in 98% of the patients examined. Silent aspiration, which occurs without a protective cough, is particularly dangerous. Swallowing function should be assessed regularly, even in the absence of pronounced complaints. When aspiration is suspected, instrumental swallowing assessment is indicated because clinical examination cannot reliably exclude it.

In later stages, possible reduction of respiratory reserve, sleep disturbances, and the need for respiratory support must be considered.

Specific pharmacological treatment is considered by the neurologist separately from the rehabilitation program, taking into account approved indications and drug availability in the country concerned.

8. Contraindications and Limitations

The main limitations relate to impaired balance, reduced deep sensation, and possible cardiac involvement.

Exercises with a high risk of falling are unacceptable without appropriate support. In pronounced ataxia, patients should avoid independently performing complex coordination tasks on unstable surfaces.

In cardiomyopathy, arrhythmias, or signs of heart failure, exercise intensity is determined following cardiological assessment.

Chest pain, fainting, marked shortness of breath, or palpitations during a session require immediate cessation of activity and medical evaluation.

In significant scoliosis and foot deformities, traumatic manipulations and exercises that cause excessive mechanical loading should be avoided.

9. Recommendations for Patients and Families

A home rehabilitation program should include regular, safe coordination exercises and maintenance of motor activity within the patient's capabilities.

Fall risk at home should be reduced by ensuring good lighting, using non-slip surfaces, and providing stable handholds where needed.

When independent walking becomes difficult, appropriate mobility aids should be selected promptly, without waiting for repeated injuries.

Family members should watch for changes in speech, choking or coughing during meals, increased fatigue, and cardiovascular symptoms.

Regular follow-up with a neurologist, cardiologist, orthopedist, and other specialists allows timely modification of the rehabilitation program.

Genetic counseling is recommended for the patient and family, taking into account the autosomal recessive inheritance pattern.

10. Conclusion

Friedreich ataxia is a hereditary neurodegenerative disease in which impaired coordination is accompanied by damage to sensory pathways and systemic complications.

The distinguishing feature of medical rehabilitation is the need to combine coordination and balance training with orthopedic support and regular cardiac monitoring.

The principal measure of rehabilitation effectiveness is preservation of the patient's functional independence, safe mobility, and ability to participate in everyday life.

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

Chapter 11. Ataxia-Telangiectasia (Louis–Bar Syndrome)

Part II. Hereditary Disorders of the Nervous System

Ataxia-Telangiectasia (A-T)

1. General Characteristics of the Disease

Ataxia-telangiectasia is a rare hereditary multisystem disease characterized by progressive neurological impairment, immunodeficiency, increased sensitivity to ionizing radiation, and a predisposition to malignant neoplasms.

The disease is caused by biallelic pathogenic variants in the ATM gene on chromosome 11. The protein encoded by this gene is involved in detecting DNA damage and regulating the cellular response to it. Inheritance is autosomal recessive.

According to published epidemiological estimates, the disease occurs in approximately one in 40,000–100,000 people; lower rates are reported in some populations.

A distinction is made between the classic form, with early onset and marked progression of neurological impairment, and variant forms with milder or atypical courses.

2. Clinical Presentation

The first signs of classic ataxia-telangiectasia usually appear in early childhood, when a child begins to stand and walk independently.

Characteristic findings include an unsteady gait, impaired trunk coordination, difficulty with precise hand movements, and progressively worsening ataxia. As the disease advances, dysarthria, dystonia, choreiform movements, and peripheral neuropathy may develop.

Telangiectasias—dilated superficial blood vessels often visible on the conjunctiva and skin—are of particular diagnostic importance. They may appear after the first neurological symptoms.

Some patients exhibit oculomotor apraxia and difficulty fixing or shifting their gaze. These disturbances complicate motor tasks requiring visual guidance.

Immune abnormalities manifest as increased susceptibility to infections, particularly of the respiratory tract. Chronic bronchopulmonary complications, nutritional difficulties, and swallowing disorders may occur.

Diagnosis is based on clinical findings, immunological assessment, measurement of alpha-fetoprotein (AFP), and molecular genetic testing of ATM. Elevated AFP is characteristic but is not sufficient as a stand-alone diagnostic criterion.

3. Goals of Medical Rehabilitation

The rehabilitation program aims to preserve the patient's functional abilities while taking immune and respiratory risks into account.

The main objectives are:

maintaining head and trunk postural control;

improving stability and coordination of movements within the patient's abilities;

preserving independent mobility and self-care skills;

preventing contractures and secondary orthopedic complications;

reducing the risk of falls;

supporting effective breathing and airway clearance;

preventing functional consequences of swallowing disorders.

Outcome assessment should consider not only the severity of ataxia but also tolerance of everyday activities, frequency of respiratory complications, and the amount of assistance required.

Ataxia scales, including SARA, may be used to monitor coordination, but their results should be supplemented by an assessment of the child's actual motor abilities.

4. Therapeutic Exercise

Motor rehabilitation in ataxia-telangiectasia focuses primarily on trunk control, functional coordination, and safe performance of everyday movements.

In early stages, play-based exercises involving changes in body position, controlled weight shifting, and reaching for objects are used. When oculomotor coordination is impaired, tasks are adapted so that excessive visual demands do not interfere with movement.

For ambulatory patients, training includes stable turns, changes in stepping direction, and walking short routes with the necessary support.

As motor impairment progresses, emphasis shifts to seated stability, independent transfers, preservation of upper-limb function, and prevention of contractures.

Gentle joint mobility exercises are combined with active movement within the patient's capabilities. Prolonged intensive sessions are inappropriate in the presence of marked fatigue, respiratory symptoms, or general deterioration.

The choice of rehabilitation setting should account for the increased risk of infection and the need to limit contact with people showing signs of contagious disease.

5. Massage and Device-Based Physical Therapy

Massage may be used to relieve associated muscular discomfort and improve tolerance of positioning, but it has no proven effect on the neurodegenerative process.

In patients with pronounced weakness, deformities, or low body weight, gentle techniques without traumatic pressure are preferred.

TENS may be considered for certain pain syndromes but is not a treatment for the underlying neurological disorder.

Muscle electrical stimulation has no established efficacy against progressive ataxia and should be used only for separate functional indications.

Therapeutic ultrasound, infrared therapy, and magnetotherapy have no proven ability to alter the course of the disease. Before prescribing any device-based procedure, its purpose, safety, and associated complications must be assessed.

Physical therapy procedures must be distinguished from diagnostic irradiation: the particular radiosensitivity of these patients is primarily associated with ionizing radiation.

6. Orthopedic and Functional Rehabilitation

Progressive impairment of trunk control can contribute to scoliosis, abnormal limb postures, and difficulty sitting for prolonged periods.

Individually adapted seating systems, orthopedic supports, and positioning aids are used when needed. Ankle-foot orthoses are selected according to gait characteristics and associated muscle weakness. Their use should facilitate mobility rather than further restrict available movements.

As fall risk increases, a wheelchair may become necessary. Timely provision helps the patient continue participating in education, communication, and everyday activities.

When hand movement precision is impaired, adapted cutlery, writing implements, and assistive devices are used.

Decisions about surgical correction of severe orthopedic deformities are made after comprehensive assessment of respiratory function, immune status, and potential anesthetic risks.

7. Rehabilitation for Systemic and Associated Impairments

One of the most serious problems in ataxia-telangiectasia is the combination of immunodeficiency and chronic respiratory disease.

Recurrent infections, impaired cough mechanisms, and aspiration may lead to bronchiectasis and declining lung function.

Respiratory rehabilitation includes assessment of cough effectiveness, instruction in feasible airway-clearance techniques, and selection of assisted methods for removing bronchial secretions. Specialized cough-assist devices are used when necessary.

Immunological management may include immunoglobulin replacement therapy and infection prevention according to individual indications.

Oropharyngeal dysphagia in ataxia-telangiectasia may progress and increase the risk of aspiration-related respiratory complications. Aspiration can occur without a protective cough; therefore, recurrent pneumonia or worsening respiratory function warrants targeted assessment of swallowing safety even without complaints of choking. When indicated, instrumental swallowing evaluation, speech and swallowing therapy, modification of food consistency, and nutritional support are provided.

The increased risk of malignancies, particularly lymphomas and leukemias, is especially important. Patients require specialist surveillance.

Because of impaired DNA repair, standard approaches to radiotherapy and certain anticancer drugs may cause severe toxicity and require management by specialists experienced in treating this condition.

8. Contraindications and Limitations

The key limitation in ataxia-telangiectasia is increased sensitivity to ionizing radiation.

Whenever possible, X-ray examinations and computed tomography are replaced by methods that do not use ionizing radiation, including diagnostic ultrasound and MRI. If an examination involving radiation is essential, the decision is individualized and the dose minimized.

Radiotherapy is generally contraindicated because of the risk of severe tissue damage.

In pronounced immunodeficiency, unnecessary contact with patients who have acute infections should be avoided. Active infection, fever, or respiratory failure requires reassessment of the exercise program.

Exercises with a high risk of falling must not be performed without appropriate support.

In severe swallowing disorders, exercise immediately after feeding is inappropriate if body position or exercise intensity increases aspiration risk.

9. Recommendations for Patients and Families

Families should understand that rehabilitation for ataxia-telangiectasia must take account of not only motor impairments but also the state of the immune and respiratory systems.

Home sessions should be conducted regularly using short functional tasks suited to the child's abilities.

It is important to adapt the environment promptly to prevent falls, preserve independent participation in daily activities, and ensure appropriate positioning.