Myopathies are the most diverse group of neuromuscular diseases as symptoms and severity of symptoms can vary widely - so many of them fall beyond any pattern. They have one thing in common - they are based on the malfunctioning of the muscles. What are the causes of myopathy? What role does rehabilitation play in myopathy?

Myopathiesare a group of rare diseases that lead to muscle weakness and wasting. The disease process begins in skeletal muscle cells. Diseases such as spinal muscular atrophy, myasthenia gravis, myasthenic syndromes or neuropathies are not included in myopathy because their symptoms are associated with damage to other structures of the nervous system. Specialists generally exclude from the group of myopathies muscular dystrophies, which have a slightly different course and a different picture in laboratory tests.

Patients with myopathy often say that they suffer from muscle atrophy, which is just a symptom of many neuromuscular diseases. What's more - in myopathies, it may not appear at all. These diseases are divided into two basic groups:congenital myopathiesandacquired myopathies . The former can come in a huge number of varieties.

Myopathies: Troubled Variety

Individual cases of myopathy differ in terms of cause, symptoms, and course. They are all genetically determined, but the way of inheritance is diverse. It can be both autosomal dominant (then the disease is passed on from generation to generation) and recessive. It also happens that a "defective" gene is associated with the X chromosome, then women are only its carriers, and only men suffer from the disease.

It also happens that the disease is not inherited, because it appears as a result of a gene modification in the cells that gave rise to a specific person. As myopathies are genetically determined, it seems that their symptoms always appear in childhood. Indeed, a large group of these diseases appear at this stage of life, but you can get sick at any age, even in the 5th or 6th decade of life.

Difficulties in describing myopathy are caused by the wide spectrum of symptoms and the varied course of these diseases. In some, disease progresses slowly, in others it progresses rapidly, leading to early disability and sometimes respiratory failure.they often need care from a family member. But this is not necessarily the case.

Patients whose disease manifested itself in adulthood may live to 90 years in a fairly good shape and he alth. They include, among others patients with certain metabolic myopathies for whom symptoms are not consistent. For example, they may sometimes experience severe muscle aches after exercise, and then everything returns to normal.

Myopathy Symptoms

Muscle weakness is the most characteristic symptom of myopathy, but nonspecific (it also occurs in other neuromuscular diseases) and one of many. So what are the early signs of myopathy that should be worrying?

  • Symptoms of myopathy in children- body laxity visible in the first year of life, often associated with a delay in motor or psychomotor development. Babies suffering from myopathy start to sit up, stand up and walk late. Another symptom that can add to laxity and movement delay is the early and rapidly worsening curvature of the spine. More rarely, a sign of myopathy are severe respiratory infections, starting with a banal runny nose. Sometimes the symptoms of myopathy are so subtle that they go unnoticed for a long time. The child is less physically fit than his peers, and avoids physical activity.
  • Symptoms of myopathy in adultsThe spectrum of symptoms is very wide, ranging from severe muscle pain several times in a lifetime after strenuous exercise, to the weakening of certain muscle groups. There may be difficulties with climbing stairs, getting out of the bathtub, and noticeable weakness in the hands when lifting them. Suddenly, combing or reaching for the wall cabinet becomes a problem.

Diagnosing myopathy: muscles under the microscope

The list of tests is neither short nor the same for all patients, given the wide range of symptoms, the varied course, and the different genetic mechanism in different myopathies. Some tests are always performed when myopathy is suspected. These include a laboratory test for the enzyme creatine kinase (CK). But only in some myopathies is CK elevated.

Electromyographic examination (EMG), which allows to assess the functions of peripheral muscles and nerves, is of auxiliary importance in people with myopathies, it does not determine the diagnosis.

The most information is provided by the histopathological examination of the muscle segment, which reveals myopathic changes and anomalies in the muscle fibers, characteristic of a specific myopathy.

In some cases, it is justified to extend the diagnosis to include the assessment of the respiratory system, because the weakening of the respiratory muscles may be an important elementdiseases, and also about ECG and echo of the heart, as damage to the heart muscle can be associated with some myopathies. Sometimes genetic tests are also performed.

Rehabilitation of myopathy is the key

We can't cure myopathy. However, we can treat them symptomatically to ensure a better quality of life for patients and prevent serious complications. The basic treatment is regular rehabilitation by a physical therapist to stretch and strengthen the muscles. This is the only currently known method of inhibiting disease progression and maintaining physical fitness for as long as possible, therefore patients with congenital myopathies require improved access to reimbursed rehabilitation.

Therapeutic activities are always personalized and corrected on an ongoing basis depending on the needs. For most congenital myopathies, pharmacology has nothing to offer patients yet.

Rehabilitation should be properly selected and dosed. One is necessary for 5 days a week throughout the year for the rest of his life, for others it is enough to exercise for a month under the supervision of a physiotherapist once a quarter or six months, supplemented with self-exercises at home.

The elements of constant care are also monitoring the work of the respiratory and cardiovascular systems in order to implement appropriate treatment, if necessary. Some require the use of orthopedic equipment (e.g. orthoses, corsets). Access to it has improved in recent years, but the situation is not ideal. The order for orthopedic supplies must be started within 30 days of being issued by a physician. For various reasons, this may be too short a deadline for caregivers with the most seriously ill. Also, the co-financing of orthopedic supplies from the National He alth Fund is not always sufficient.

Doctors are still waiting for novel therapies (e.g. gene, stem cell) that could breakthrough treatment of myopathy. A great deal of research has been done in the last 10 years, so neuroscientists are looking to the future with cautious optimism. But still the most important thing is to use all available methods of treatment so that, thanks to arduous exercises, careful neurological, cardiological, pulmonary and orthopedic care, patients keep them in the best possible shape.

Important

Acquired myopathies

Acquired myopathiesare autoimmune (autoimmune) inflammatory diseases that can develop at any age. The most common are dermatomyositis and polymyositis. Drug treatment is available for this group of diseases. It is generally effective.It improves mobility, slows down the progression of myopathy, and prevents its complications. However, rehabilitation should be woven into the therapeutic plan.

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Genetic diseases