Physical Therapy for Genetic Disorders

Family members should watch for persistent cough, recurrent respiratory infections, changes in breathing, choking during meals, and unexplained weight loss.

Before medical investigations, healthcare professionals must be informed of the diagnosis and the patient's increased radiosensitivity.

Genetic counseling is recommended for the family in view of autosomal recessive inheritance.

10. Conclusion

Ataxia-telangiectasia is a hereditary multisystem disease in which progressive neurological impairment is accompanied by immunodeficiency, respiratory complications, and an increased cancer risk.

The rehabilitation strategy must take account of motor development, feeding safety, respiratory function, and limitations associated with radiosensitivity.

The main objective of medical rehabilitation is to preserve available functions, prevent complications, and enable the greatest possible participation in everyday life.

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

Chapter 12. Huntington Disease

Part II. Hereditary Disorders of the Nervous System

Huntington Disease (HD)

1. General Characteristics of the Disease

Huntington disease is a hereditary, progressive neurodegenerative disorder characterized by a combination of motor, cognitive, and psychiatric disturbances.

The disease is caused by a pathological expansion of CAG repeats in the HTT gene on chromosome 4. This genetic alteration leads to the production of abnormal huntingtin protein, which disrupts neuronal function, predominantly in the basal ganglia and cerebral cortex.

Inheritance is autosomal dominant. If one parent carries a pathogenic gene variant, each child has a 50% chance of inheriting it.

The prevalence of Huntington disease varies substantially across populations. Epidemiological rates are heterogeneous across European countries, as confirmed by systematic reviews. According to a 2025 meta-analysis, the pooled prevalence in sub-Saharan Africa is approximately 2.8 cases per 100,000 people.

Symptoms usually begin between the ages of 30 and 50, although juvenile forms with onset in childhood or adolescence also occur. The disease is progressive and gradually limits the patient's independence.

2. Clinical Presentation

The best-known motor manifestation of Huntington disease is chorea: involuntary, irregular, rapid movements of the limbs, face, and trunk.

In the early stages, these movements may appear as minor motor clumsiness or restlessness. Later, disturbances of gait, coordination, balance, and the precision of voluntary movements develop.

Difficulties initiating and sequencing motor actions, slowed reactions, and impaired postural control are characteristic.

As the disease progresses, dystonia, bradykinesia, and muscle rigidity may develop. In juvenile Huntington disease, rigidity and slowness of movement often predominate over chorea.

Cognitive impairment manifests as reduced ability to plan, concentrate, and perform sequential tasks. Depression, irritability, anxiety, apathy, and behavioral changes may occur.

In advanced stages, severe impairments of speech, swallowing, nutrition, and self-care develop.

The diagnosis is confirmed by molecular genetic testing of HTT with determination of the number of CAG repeats.

3. Goals of Medical Rehabilitation

The primary goal of rehabilitation in Huntington disease is to preserve functional independence for as long as possible despite combined motor and cognitive deficits.