Description myopathy

Myopathy is a disease affecting the structure of the skeletal muscles. It’s actually a heterogeneous group of diseases differing symptoms, progress and causes. Therefore, we talk about them in general, but specifically analyze the various subgroups.


a) Muscular Dystrophies

Muscular dystrophy is a genetic, fatal disease caused by mutations in the gene encoding dystrophin. This disease is characterized by progressive wasting of skeletal muscle.

Further subdivided into several forms, the most common is calledDuchenne Muscular Dystrophy (acronym DMD) and Becker muscular dystrophy (BMD abbreviation). Both forms are characterized by a reduction in muscle strength associated with fluctuations in the size of muscle fibers, which gradually begin to convert to connective and adipose tissue. This disease attacks almost exclusively boys, and the first symptoms appear between the ages 1-3 years of age. Muscular dystrophy Duchenne / Becker is according to research, the most common lethal genetic defect in the world.


Risk factors for muscular dystrophy

The only risk factor is heredity or mutations in the genes.

Disorder is caused by complete or partial deficiency of dystrophin, which binds to sex chromosome X. Women unlike men these chromosomes 2, and therefore are only transmitters (ie. That they disease itself does not show). The probability of illness the carriers of 50:50 with his son and likely carrier of 50:50 with her daughter.

But the disease can also occur in families where neither parent is affected nor a carrier, and due to gene mutations. The gene encoding the dystrophin gene is the largest known about the size of 2.4 Mb and its size is very prone to spontaneous mutations. Dystrophin function is not yet fully understood, but apparently stabilizes sarcolemma (cell membrane on the surface of muscle fibers) during the contraction and relaxation of the muscle.


Prevention muscular dystrophy

No known prevention of this disease does not exist.


Signs and symptoms of muscular dystrophy

In Duchenne children are born “healthy”, but their motor development is slightly delayed and toddlers can be noted enlarged calf muscles (hypertrophy).

Aged 1-3 years are beginning to show ** ** difficulties with walking, preschool children are frequent crashes and problems with climbing stairs, getting up from the ground and over.

During school age is characterized by a walk on tiptoe and increasing the lumbar curvature (lordosis). There are problems with raising hands above his head and almost all the children lose the ability to walk at the age of 7-12 years.

Typical is also increasing muscular weakness and incoordination.

Weakening first affects legs, pelvic muscles, then the upper limbs, neck, and respiratory muscles.

The average length of individuals with this disease is approximately 20 years. The cause of death is usually a heart or shortness of breath (after muscles to ensure this activity will diminish as well).

Becker muscular dystrophy is a milder form, which allows a longer survival time. The first symptoms appear at age 5 years, there are muscle pain, cramps. The progress may be less critical.


Diagnosis of muscular dystrophy

Disease is diagnosed on the basis of the above symptoms and abnormally high levels of the enzyme creatine kinase * * in the blood. Among other tests, clarifying the type of development and disease are muscle biopsy, genetic testing, EMG (electromyography), EEG (electroencephalogram) and histochemical tests showing abnormalities of dystrophin.


Treatment of muscular dystrophy

Ducheneova muscular dystrophy and Becker type incurable diseases, but there are many ways to slow down its development, and after some time to stabilize.

It is indicated primarily immunosuppressive therapy that suspends the course of the disease.Served as corticosteroids (prednisone), postponing the inability to walk up to 3 years if the disease is detected in time, and cyklosporun A, improving muscle strength.

Necessity is the diet, due to weight control. Obesity is excessively burdened muscles and fatigue are thus manifested earlier.

Treatment of muscular dystrophy can do even without the help of a physiotherapist. It will deal mainly with prevention of contractures and stretching shortened muscles, especially the muscles of the hip, Achilles tendon and knee tendons.

Patients can not be done even without the various rehabilitation aids. From the beginning it aids to promote walking and various orthoses and the last stage is no longer needed an electric wheelchair.

It is also appropriate swimming (to reduce muscle tension and benefits for the respiratory function) and hyppoterapie (therapy using horseback riding, which involves muscle involvement, which is not affected boys normally be able to use it).


Complications muscular dystrophy

Due to the malfunction of the muscle apparatus are among the complications of muscle shortening, contractures and development of scoliosis.

Muscles dystrofici suffer often repeated respiratory infections and decrease in vital capacity.

In the third confirmed loss of intellectual functioning with an IQ below 75, cataracts, a disorder of the endocrine glands and atrophy of reproductive organs.


b) myositis

Myositis is a general term for inflammation of the muscle. This condition can be caused by injury,infection or autoimmune disease. It is associated with several different diseases, e.g. polyomyelitidou and dermatomyozou.

Myositis may also act on various parts of the body. Mostly affects the joints, heart, lung, gut and skin.

In fact, it is a very rare disease with various forms. More frequently, it affects women, children between 5 and 15 years and adults between 30 and 60 years of age.

Risk factors myositis

Causes of this disease are not yet fully known as risk factors and prevention.

Signs and symptoms of myositis

The main symptom of myositis is muscle weakness, usually localized to the shoulder or hip joints.

Later, the muscles of the neck and neck cause difficulty swallowing, throwing his head, singing well or articulate, fluent.

It is present and fatigue to exhaustion and problems with the position of the seat.

Attacked may also be respiratory muscles, including the chest muscles, resulting in difficulty in breathing.

Other symptoms that often occur with myositis are fever, weight loss, muscle aches, low muscle strain or arthritis.

The symptom may also be Raynaud’s phenomenon, manifested by decreased blood flow through his fingers, which consequently changes its color to white and then to blue. Occasionally, it may have a damaging effect on myositis irregular heartbeat.

The diagnosis of myositis

Necessary to determine the final diagnosis in addition to history-taking also conduct several tests.These include blood tests, muscle biopsy and EMG (electromyogram).

treatment of myositis

Although at myositis no cure, there are several treatments. These include pharmacotherapy, exercise, physical therapy and rest.

Specific treatment is highly individualized for each person and may change during treatment. For the most effective therapeutic agent they are treated with corticosteroids. In the event that either they are unable to relieve all the symptoms, then accessing treatment with immunosuppressants,which are designed to suppress the autoimmune system of the individual.

complications myositis

General complications include cancer, dysphagia (difficult swallowing), intestinal and pulmonary damage and problems with the autoimmune system.

Further complications are usually associated with the use of corticosteroids, which have many side effects. Negative effects are associated with weight gain, thinning of the bones, depression, high blood pressure and increased risk of infection.

c) Myopathy contingent malfunctioning thyroid

This type of disease is, as the name implies, in close connection with thyroid function. If this is thethyrotoxicosis (excess thyroid function), the symptoms of muscle weakness, loss of muscle mass and strength.

There are also problems with climbing stairs and final stage is characterized by difficulty in swallowing and breathing.

In hypothyroidism (underactive thyroid gland), in addition to muscle weakness and musclesoreness occurs and elevated blood cholesterol.

It is a relatively rare disease that has not yet been explored in detail.

d) myotonic myopathy

This type of muscle myopathy is associated with increased muscle strength and impaired relaxation prior muscle contraction. E.g. convulsive handshake with the impossibility for some time to loosen the grip. Typical is the loss of muscle (atrophy) and numerous organ involvement such as heart abnormalities, hormonal disorders and psychological changes. It is caused by a gene mutation and inheritance.

Risk factors myotonic myopathy

Similar illness in the family.

Prevention myotonic myopathy

Does not exist.

Signs and symptoms of myotonic myopathy

Besides the already mentioned include bulging forehead, weakened muscles on the front of the neck (sternocleidomastoid), bending the neck to crouch (swan neck) and weakness of muscles on the front of the shin, which results in a tripping over their own toe.

Present is too monotonous voice with a nasal overtones, as a result of weakness deep neck muscles. Increased muscle tension manifests itself after a strong hand grip and easily can be called up on the tongue.

Prognosis myotonic myopathy

The prognosis is highly variable for each individual. Much will depend on the physical and mental state.

Treatment of myotonic myopathy

Rehabilitation is recommended, use of orthoses and rehabilitation aids that can often dramatically improve the quality of life. Treatment is indicated also by drugs (procainamide, quinine, acetazolamide, diphenylhydantoin, carbamazepine or steroids). In many ways can help a visit to an orthopedist.

Complications myotonic myopathy

Weakening muscles of the diaphragm can influence the development of chronic bronchitis.

They are also common cardiac conduction disturbances with a reduction in heart rate and other heart abnormalities that can lead to sudden death. Therefore with these difficulties prescribed by special devices – pacemakers.

Nevertheless, the majority of patients with this type of disease die prematurely, either a pulmonary infection, heart block or failure.

Other names: muscle weakness, muscular dystrophy, Duchenne muscular dystrophy, Becker muscular dystrophy, myositis, myopathy Myotonic

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