Muscular system – myopathies/dystrophies

Myopathies and dystrophies form a large group of muscle diseases whose diagnosis is very complex and often involves several medical disciplines, while treatment is challenging and looks to the future. Diagnosis and treatment allow no superficiality or mediocrity, even though the outcome is often uncertain and unfavourable. Particular patience and a special approach to all diagnostic and therapeutic measures are needed. Specialist doctors (physiatrist, neurologist, anaesthetist, orthopaedic surgeon and others), as well as the family doctor, should take a detailed medical history, and the clinical status is monitored by several doctors. Some myopathies, such as dermatomyositis and myositis in inflammatory rheumatic diseases, are the area of expertise of the rheumatologist. The role of the specialist physiatrist in diagnosis and treatment is complex, because some patients come with weakness, pain and an inability to work and carry out activities of daily living. The physiatric aspect covers rehabilitation medicine, which includes monitoring the effect of medication, coordinating all the measures taken and efforts made, programmed exercise, and the use of orthotics, rehabilitation robotics, and mobility and self-help aids.

Goals of the rehabilitation programme for muscular dystrophies and myopathies in general:
– preventing and minimising joint contractures
– minimising the harmful effects of immobilisation and deconditioning
– maintaining and improving strength and endurance
– maximising functional mobility
– maximising independence in activities of daily living

Myopathies, myositis and dystrophies are a large and diverse group of diseases, which include:
– hereditary muscular dystrophies (Duchenne, Becker, facioscapulohumeral, limb-girdle, and myotonic muscular dystrophy of the Curschmann–Steinert type)
– toxic myopathies (alcohol-related, steroid-induced, or caused by medicines such as statins)
– autoimmune disorders (myasthenia gravis)
– autoimmune inflammatory myopathies/myositis (polymyositis, dermatomyositis)
– myopathies and myositis in systemic diseases (progressive systemic sclerosis, Sjögren's syndrome, systemic lupus erythematosus, rheumatoid arthritis, collagenoses, mixed connective tissue disease, overlap syndrome, polyarteritis nodosa, Behçet's disease, giant cell arteritis/polymyalgia rheumatica, diffuse fasciitis with eosinophilia, eosinophilic polymyositis, sarcoidosis, myositis in Crohn's disease, myositis ossificans, myosclerosis)
– mitochondrial myopathies, myotonic syndromes and periodic paralysis syndromes (channelopathies)
– metabolic myopathies (disorders of lipid and glycogen metabolism, mitochondrial myopathy, disorders of the purine nucleotide cycle)
– paraneoplastic syndromes (Lambert–Eaton syndrome)
– congenital myopathies (Thomsen's congenital myotonia)
– endocrine myopathies (hypothyroidism, hyperthyroidism)
– infectious myopathies (AIDS, trichinellosis)

The role of exercise in myopathies and muscular dystrophies:
Strength exercises should be optimal and adapted to the patient's health status and functional abilities, which means that in most cases the intensity of physical activity should be submaximal – rarely, if ever, maximal – and a feeling of excessive fatigue should be avoided. Continuous monitoring and adjustment during exercise are advisable, under the simultaneous supervision of a specialist in physical medicine and rehabilitation (a physiatrist). Submaximal movement and resistance exercises must be strictly dosed to avoid excessive fatigue and weakness after overexertion. Some patients tolerate higher-intensity activities involving several muscle groups, and such activities can significantly improve muscle strength. Supervision is also mandatory in these cases.

High-intensity exercise, especially eccentric muscle contractions, can cause raised muscle enzyme levels (CK), muscle tenderness and pain. A slowly progressive or non-progressive muscle disease (myopathy, muscular dystrophy) is more likely to respond well clinically to physical activity, even to resistance exercise. The foundation of exercise therapy for these patients is slowing progression and preventing joint contractures. Balance exercises are useful, especially when the clinical examination reveals postural compensatory mechanisms for maintaining an upright position and stance. Energy conservation techniques, sensible management of activities and planning of daily activities are of vital importance. Monitoring exercise often also requires consultation with a doctor, because patients exercise not only during therapy sessions in the presence of a physiotherapist, but also outside the healthcare facility, in their free time. Symptoms that warn of inappropriate exercise therapy are increased fatigue and weakness after excessive muscle activity that are still present 30 minutes after the end of exercise. Pain, fatigue and weakness 24–48 hours after a particular activity are a warning that the exercise intensity very probably needs to be adjusted. The same applies to cramps, prolonged shortness of breath and a feeling of difficulty swallowing.

The role of orthoses and mobility aids:
Orthoses have a stabilising role and prevent contractures. They also serve as a useful external support that can compensate for some of the muscle weakness and improve movement control and joint stability. Caution is needed with lower-limb orthoses when the weight of the orthosis becomes relatively too great and it can no longer provide support in relation to the muscle weakness. Changes in joint relationships and biomechanics caused by orthoses or exoskeletons can create compensatory mechanisms during movement and walking, and ultimately make walking more difficult or lead to falls and injuries. Night orthoses and corrective splints are useful for providing passive support. The same applies to walking aids, walking and conditioning platforms, rehabilitation robotics, parapodiums, standing frames and other aids. When walking becomes unsteady, falls become frequent and the person no longer has the strength to stay on their feet unaided, a (powered) wheelchair or a mobility scooter becomes necessary. The complexity of diagnosis, treatment and rehabilitation requires good coordination between several experts, and only a small number of healthcare institutions can provide this level of care.

Faktor Zdravlje Polyclinic makes great efforts to maintain a high standard of care for patients with myopathies and muscular dystrophies. Our experts strive to give you an objective and rational picture of these diseases and conditions.