Muscular dystrophy (also muscle wasting) is an umbrella term for various primary (ie without other underlying disease) muscle breakdown. There are more than 30 different subclasses of muscular dystrophies known.
The most common, however, are the Duchenne muscular dystrophy (with circa 1: 5000 most common childhood muscle diseases) and Becker-Kiener type (adult with a slightly better prognosis and slower course). Other subtypes are rare.
All types have in common that the diseases are accompanied by a progressive, usually symmetrical muscle weakness with subsequent muscle wasting.
Muscular atrophy or muscular dystrophy is not due to an external cause, but is almost exclusively hereditary. Inheritance is usually X-linked recessive, so the gene defect is located on the X chromosome and in order to get sick, both X chromosomes would be affected. Therefore, usually only male individuals are affected because they do not have a second X chromosome and thus a gene defect leads to disease severity.
The defective gene can only be transmitted by the mother (she is a conductor), but she herself is not manifestly affected. Of course, new mutations (that is, without any inheritance existing genetic defect) are possible. The genetic defect causes a reduced amount (Becker type) or a complete disintegration of dystrophin (Duchenne), a building block of skeletal muscle, which is necessary for the stability and contractility (ie the ability of the muscle to contract). This dystrophy deficiency ultimately leads to muscle weakness and muscle atrophy.
In order to differentiate a new mutation from an inheritance (especially for the determination of the risk of recurrence in case of a new pregnancy), a genetic analysis of the mother can be performed. In many cases, however, an increased muscle breakdown enzyme (CK) is also detectable in the asymptomatic mother.
Muscular dystrophy is characterized by progressive muscle weakness. This affects predominantly certain body regions and usually occurs symmetrically. When and if it comes to any complaints depends mainly on the form of muscular dystrophy. Thus, more than 30 different forms are known, which are associated with different complaints.
In the rather slowly progressive muscular dystrophy of the Becker-Kiener type, muscle weakness initially shows in the region of the thigh and pelvic muscles. The disease begins between the ages of six and twelve, so walking is maintained until the 30th or even 40th year in most patients due to the slow course of the disease. Muscle weakness also affects the function of the lungs and heart only in later stages.
On the other hand, muscle wasting of the Duchenne type progresses rapidly. The first symptoms appear in infancy. The affected children stumble more often and fall quickly. About one third of those affected also suffer from calf pain and a waddle walk.
Due to progressive muscle weakness, patients with Duchenne muscular dystrophy need wheelchair access and full care before the age of 18. As a result of dystrophy, the respiratory and cardiac output are increasingly limited, so it can also lead to fatigue, headache and lack of concentration.
Already in early childhood (type Duchenne) or in adolescence to early adulthood, the first symptoms of muscle atrophy (muscular dystrophy). Characteristic is a progressive muscle weakness, which usually begins symmetrically on the pelvic and shoulder girdle. Later it comes to the actual muscle wasting.
The placeholder is adipose tissue, which leads to optical hypertrophy (typical are the so-called gnome calves). In the process, children or adults lose the ability to stand up without help and finally leave. Since the muscular dystrophies are not curable, it comes to death after many years (life expectancy in type Duchenne about 25 years, with type Becker much longer). The cause of death is usually respiratory depression with resulting infections.
In case of muscle atrophy, it can happen that the heart muscle thickened and weakened. Disorders of heart rhythm and respiration are the result. Because the skeleton is no longer supported by the muscles, it can also cause limbs to be deformed and the spine to contract in a pathological manner. In this case, the sufferer often suffers from severe back pain.
Deformities of the joints can not be excluded due to the strong shortening caused by the regression of the muscle. These are then usually not correct. At later stages of the course, respiratory muscle problems may arise. Breathing then becomes heavier and there is nocturnal waste of oxygenation. This is associated with an increased susceptibility to respiratory diseases.
If patients no longer have the ability to change their lying position in bed, the result is pressure sores on the lying skin. This is also known as bedsores. All complications can be limited by a medical treatment, but usually can not be prevented. In general, complications, not muscle atrophy itself, ultimately lead to death.
A continuous reduction in physical performance should be discussed with a physician. If usual sporting or everyday obligations can no longer be performed, a check-up with a doctor is recommended. Pain in the muscles, a fast physical overstrain of the person concerned, fatigue and fatigue are indications of a health impairment.
If you frequently experience headaches, a general malaise, an increased need for sleep and an inner restlessness, a doctor is needed. If the limbs shake, if the body is maladjusted, or if there are restrictions on the possibilities of movement, a doctor should be consulted. An irregularity of the respiratory activity, a general malaise and visual abnormalities in locomotion must be investigated. Frequently the affected persons are attracted by a waddle during the forward movement.
In addition, if you experience behavioral problems, mood swings or other psychologically related irregularities, a doctor's visit is recommended. The physical changes threaten emotional or emotional problems that should be prevented in good time. An increased risk of accidents or falling must be taken into account in case of muscle wasting. Therefore, a doctor should be informed of the peculiarities, if there are repeated injuries. If the attention or concentration of the person concerned decreases, he also needs medical help.
The therapy of muscular atrophy (muscular dystrophy) serves above all the long preservation of the muscle strength (and thus the independence), the balance of already existing deficits and the avoidance of complications. An interdisciplinary therapy makes sense without restriction. So family doctor, neurologist, physiotherapist, physiotherapist, nursing staff and of course the parents should be involved. Likewise, the person affected should be allowed a largely normal life. School visits and work (eg in a special workshop for those affected) should be sought.
In addition to physiotherapy exercises a variety of tools are available to compensate for deficits (eg electric wheelchair, lifter for transfers, eating and washing aids, etc.). Not infrequently it comes through the weakened back and abdominal muscles to spinal curvatures. These should be corrected surgically in order to maintain the sitting ability. Crucial to the prognosis is the treatment of respiratory depression.
In addition to physiotherapeutic and physiotherapeutic interventions, nocturnal positive pressure ventilation can significantly increase the prognosis and the quality of life. Psychological concomitant therapy of the often depressed patients should be offered.
A cure for muscular dystrophy is not possible today. However, the quality of life of patients can be significantly improved by treating the symptoms and professional physiotherapy. In particular, those affected benefit from respiratory therapy, heat treatments, knock-pressure massage, electrotherapy and the combination of dynamic and isometric exercises. However, it should be noted that overstraining and over-exertion of the musculature should be avoided as this could accelerate the course of the disease.
According to new studies, the use of so-called creatine monohydrate, in the lighter cases of muscular dystrophy, can increase the strength of the patient for some time. Also important is a professional psychological care of patients and their families, as this incurable disease is a heavy burden. Self-help groups can also provide good support in this regard. In addition, tendon-prolonging surgery, when performed on time, can prolong patient walking ability. The resulting spinal curvature, which manifests itself after a few years, should also be corrected in a timely manner, as this has a negative impact on respiration.
As soon as the disease has affected the respiratory muscles, nightly home ventilation should be used to improve the breathing. Due to the fact that there is still no way to cure the disease, the life expectancy of patients with muscular dystrophy rarely exceeds 25 years.
The aftercare for muscle atrophy is essentially in alleviating the discomfort and disability that occurs. Physiotherapy is very important here. Via physiotherapy and occupational therapy, mobility and residual functions of the muscles can be promoted. However, the physiotherapy should not be too strenuous, because you can not necessarily be sure that this does not affect in the end. Patients also receive hand rails or walking aids.
This allows them to compensate for the failure of individual muscle groups as long as possible. Later, treating swallowing and speech disorders is important and necessary. Nevertheless, these measures can not avoid a later diet via probes - in this way, a potential penetration of food into the airways should be prevented.
Supporting the respiratory function reduces the effort of breathing for the person concerned. Slight strokes via palms prove to be extremely beneficial. The same goes for gentle watering - all the more so as the sensitive nerves remain intact for a lifetime. An important factor is also the diet - right foods can certainly provide relief.
For example, protein-rich drinks can improve muscle strength and quality of life in elderly, sick people. However, it also seems important to properly educate and motivate the mostly older people in order to save them from the downward spiral of aging - including muscle atrophy.
In case of muscle atrophy, sufferers can do a lot to relieve the symptoms and maintain their quality of life as long as possible. Tools such as a grab or a walker promote independence and make everyday life easier. Also a raised toilet seat and a bath seat are sometimes useful. At least as important is exercise, such as in the form of physiotherapy, to slow down muscular dystrophy. However, any kind of sport should be discussed with the attending physician because: The tissue is very susceptible to muscle atrophy, so not every sport is suitable.
Basically, it is essential in muscular dystrophy that the person concerned adheres to the instructions of the doctor and, for example, regularly takes the prescribed medication. Physiotherapists can apply knock-on massages and instruct the patient to do some exercises on their own at home.
Since the diagnosis of muscle wasting can also affect the emotional stability, it is also advisable to visit a self-help group. Here affected people can make contact with other patients and exchange their daily lives with muscular dystrophy. Regular visits to a self-help group also help to keep patients active, which is also very important for muscle atrophy.Tags: