Myopathies are muscle diseases. In most cases, striated skeletal muscle is affected. Muscular dystrophies or myotonic syndromes belong, for example, to the group of myopathies.

What are myopathies?

The term myopathy comes from the Greek and means muscle floss. Myopathies are accordingly disorders of the musculature. They usually affect the striated musculature of the skeleton. But diseases of the heart muscle, the so-called cardiomyopathy, belong to the group of myopathies.

Myopathies are to be differentiated from other illnesses, which are also associated with a weakness of the musculature. For example, amyotrophic lateral sclerosis or spinal muscular atrophy are not myopathies. They belong to the diseases of the motor neuron. Myopathies can be subdivided into primary and secondary myopathies.

causes

Primary myopathies are primarily based on disorders of the musculature. They are therefore based on no other disease. Muscular dystrophies are among the degenerative primary myopathies. These include:

  • limb dystrophy,
  • Facioscapulohumeral muscular dystrophy
  • Congenital muscular dystrophy.

Most muscular dystrophies are genetic. Myotonic syndromes such as myotonic dystrophy type 1, myotonic dystrophy type 2, Paramyotonia congenita Eulenburg or Myotonia congenita Thomsen are also inherited. Congenital myopathies are already present in newborns. Diseases such as nemaline myopathy, central-core myopathy or myopathy with congenital fiber-type disproportion are also caused by genetic defects.

The same applies to mitochondrial myopathies. Due to a [[[mutation]] in mitochondrial DNA, the mitochondria are reduced or altered. This leads to a disruption of the energy metabolism within the cell organelles. Myopathies also occur in the context of other underlying diseases. These muscle diseases are also called secondary myopathies. Secondary myopathies are often the result of diseases of the endocrine system.

They occur in hyperthyroidism or hypothyroidism, in Cushing's disease and in diseases of the parathyroid gland (hypo- or hyperparathyroidism (parathyroid hyperfunction)) on. Metabolic diseases can also be manifested by myopathies. The muscles need a lot of energy. Therefore, especially disturbances of the energy metabolism in the muscles express. Important diseases here are the lipid storage disease or the glycogen storage disease.

Myopathies can also be the result of a nutrient deficiency. Thus, the muscle diseases occur in vitamin D deficiency or selenium deficiency. Inflammatory myopathies occur in autoimmune diseases or infectious diseases. Trichinosis is an infectious disease that often causes myopathies. Autoimmune diseases with myopathies are polymyositis and inclusion body myositis. However, myopathies can also be caused by drugs, alcohol abuse or other exogenous toxins.

Symptoms, complaints & signs

Characteristic symptom of all myopathies is muscle weakness. In muscular dystrophies, in addition to progressive muscle weakness, muscles degenerate. Congenital myopathies begin right after birth or in the first few months of life. Musculature develops too slowly or incompletely. The children can not operate their muscles against gravity.

Myotone syndromes are characterized by a pathologically prolonged period of muscle tension. The inflammatory myopathies is based on an inflammatory process. In addition to muscle weakness, there is redness and overheating of the muscles. Even pain is possible. If the heart muscle is affected by myopathy, the conduction is impaired. The result is cardiac arrhythmia.

Mitochondrial myopathy can lead to impaired brain function. There may be symptoms similar to strokes. These phenomena are also referred to as MELAS syndrome. Mitochondrial myopathy is a multisystemic disease. The eyes or the inner ear can also be affected. The damage to the retina and the optic nerve can lead to blindness. The development of diabetes mellitus is also favored by mitochondrial myopathy.

Diagnosis & disease course

Initial evidence of myopathy provides muscle weakness as a characteristic syndrome. In a detailed medical history, the doctor clarifies possible risk factors or causes. If you suspect a muscle disease, a blood laboratory can be performed. Muscular dystrophy increases creatine kinase (CK) in the blood serum. This increases in a decline of skeletal muscle fibers.

The increase in creatine kinase in the blood is called hypercreatinemia. Although aspartate aminotransferase (ASAT), alanine aminotransferase (ALAT) and lactate dehydrogenase (LDH) are also elevated, they are not as sensitive and specific as serum creatine kinase. The level of creatine kinase differs quite clearly between the individual muscular dystrophies. The value can therefore also be used for differential diagnosis.

To ensure the diagnosis, a muscle biopsy is performed on most myopathies. Depending on the type of disease, various typical structures are revealed in the histological examination.

complications

Due to the myopathy it comes primarily to a strong muscle weakness. The resilience of those affected drops significantly and it comes to severe restrictions in everyday life. The affected people are tired and beaten off by the illness and can no longer carry out ordinary everyday activities. Not infrequently, the myopathy also causes heart problems, so it can lead to disturbances of the heart rhythm.

In the worst case, the person affected by this complaint can also die from a sudden cardiac death. The heart complaints continue to negatively affect the direction of stimuli. In some cases, myopathy causes paralysis and further limitations of sensitivity. The motor system may also be affected negatively by this disease. Those affected continue to suffer from diabetes.

The treatment of myopathy can take place with the help of medicines and through therapies and exercises. This can reduce and reduce many complaints. However, it can not be predicted whether a complete cure will occur. Complications can occur when a tumor has occurred. This may reduce the life expectancy of the patient.

When should you go to the doctor?

A persistent general feeling of illness as well as an internal weakness should be clarified by a doctor. If it comes to disorders of the metabolism or irregularities of the heart rhythm, a doctor's visit should be made to clarify the cause. Sleep disorders, a concentration and attention deficit and a decrease in overall performance are to be examined and treated. With an increased energy requirement, a fast fatigue or lower load capacity there is a health impairment, which should be clarified. If it comes to general dysfunction, loss of vision or hearing, a doctor is needed.

An internal irritation, sensory disturbances, numbness of the skin and hypersensitivity to temperature or touch should be discussed with a physician. Inflammation of the muscles, an internal heat development, an increased need of fluid and headaches are signs of the organism for an existing illness. If it comes to interruptions of consciousness, a muscle weakness or a malaise, the consultation of a doctor is necessary. Discolouration of the skin is considered a warning and should be presented to a doctor.

Tachycardia, sleep disturbances, restlessness and emotional abnormalities should also be discussed with a doctor. With changes in behavior, a depressive appearance or mood swings sequelae may occur, which must be taken into account in the diagnosis. They can worsen an existing condition indirectly or cause other disorders that should be treated.

Therapy & Treatment

The primary myopathies can not usually be treated causally because they are based on a genetic defect. Depending on myopathy, various medications are used to treat the symptoms. Physiotherapy can also help those affected. Secondary myopathies focus on the treatment of the underlying disease. Thyroid subfunctions are treated with thyroid hormone preparations.

In hyperthyroidism, antithyroid drugs are administered. Cushing's disease is treated with synthetic glucocorticoids. If the Cushing syndrome is caused by a tumor, it must of course be removed. Nutritional myopathies require substitution of the nutrient. Myopathy with cardiac involvement is usually treated with cardiotonic drugs and antiarrhythmic drugs.

Outlook & Forecast

Myopathy is unlikely to be fully cured until the next few years, if there is progress in genetics. In some forms of myopathy, the prospect of healing is rather poor, as there are cases of fatal outcome. This is particularly the case in infants and neonates born with congenital myopathy and other health disorders.

In contrast, sufferers with myopathies who show only minimal symptoms, with a normal life expectancy. These easier myopathies do not progress and can also be handled well with today's modern treatment methods. Affected children can also cope well with some forms of myopathy until adulthood and often well into old age.

In particular, the life expectancy and quality of life of patients with congenital and non-congenital muscle atrophy have improved in recent years. Life-threatening symptoms are extremely rare and occur only in isolated cases. The majority of myopathies today are experiencing increasing levels of recovery as well as marked improvements in well-being, even if healing is not always possible. The prognosis of myopathy is therefore extremely different and individual. In addition, the myopathies can be treated only causally or depending on the type, only predominantly symptomatically.

prevention

Primary myopathies are inherited. Prevention is not possible here. Secondary myopathies can be prevented by early detection and treatment of the underlying disease. An adequate intake of nutrients and vitamins such as vitamin D or selenium can reliably prevent nutritive myopathies.

aftercare

In myopathy, the measures or the possibilities of direct follow-up are in most cases clearly limited. For this reason, the person should ideally seek medical attention at an early stage to prevent the onset of other symptoms and complications. It usually can not come to an independent healing, so always a treatment by a doctor is necessary.

The sooner a doctor is consulted for myopathy, the better is usually the further course of the disease, so that the focus is on the early diagnosis. As a rule, patients are dependent on the use of various medications in myopathy.

It is important to ensure the correct dosage and regular intake. Most sufferers are dependent on regular examinations and checks by a doctor, so that further tumors can be detected early. It may be due to the myopathy to a reduced life expectancy of the patient, the further course is very much dependent on the exact severity of the disease.

You can do that yourself

In the case of genetic myopathy, the treatment can only relieve symptoms and improve the quality of life. This includes regular participation in physiotherapy. Especially with water gymnastics very good results could be achieved in the area of ​​muscle building. A balanced diet and a healthy balance of stress and relaxation are generally supportive.

Secondary myopathy can treat the underlying condition and correct muscle weakness. Affected persons should first check their consumption of medicines, alcohol and other recreational poisons. If there is a lack of nutrients, this is well balanced by a targeted diet of those affected. Perhaps a targeted nutrient therapy can also be used. Selenium intake has been shown to help with this form of muscle weakness. Selenium is also recommended for existing hypothyroidism as a supplement to hormone intake. Especially with an existing autoimmune disease, a healthy lifestyle with sufficient sleep, hydration and stress reduction (autogenic training, yoga) is fundamentally important.

Since myopathy is mostly inherited and even toddlers show symptoms, parents of affected children should seek advice early on or seek support in a support group or psychological support. The psychological burden on those affected and their parents should not be underestimated. The statutory health insurance companies can also apply for household support for affected families.

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