Muscle wasting (muscular dystrophy)

Of the muscular dystrophy or specialist medical Muscular dystrophy is a muscle disorder that is primarily caused by heredity. The muscle wasting can take different forms and differs in the course and the prognosis. Unfortunately, muscular dystrophy cannot yet be cured. Therefore, the main focus of any treatment is the slowing down of the disease and the alleviation of the symptoms associated with muscle wasting.

What is muscle wasting (muscular dystrophy)?

Targeted muscle building does not always help against pathological muscle wasting and weakness, but it can serve supporting physiotherapeutic purposes.

The Muscular dystrophy (also muscular dystrophy) is an umbrella term for various primarily (i.e. without any other underlying disease) dismantling muscle diseases. There are more than 30 different subclasses of muscular dystrophies known.

The most common, however, are the Duchenne muscular dystrophy (with around 1: 5000 most common muscle diseases in children) and the Becker-Kiener type (adult form with a slightly more favorable prognosis and a slower course). Other subforms are rare.

What all types have in common is that the diseases are associated with progressive, usually symmetrical muscle weakness with subsequent muscle wasting.

causes

For muscular dystrophy or. Muscular dystrophy is not based on an external cause, but is almost exclusively hereditary. The inheritance is usually X-linked recessive, so the genetic defect is accordingly on the X chromosome and in order to fall ill, both X chromosomes would have to be affected. Therefore, only male individuals are usually affected, as they do not have a second X chromosome and a genetic defect leads to the expression of the disease.

The defective gene can only be transmitted from the mother (she is a carrier), but she is not manifestly affected herself. Of course, new mutations (i.e. a genetic defect without any inheritance) are also possible. The genetic defect causes a reduced amount (Becker type) or a complete breakdown of dystrophin (Duchenne), a building block of the skeletal muscle, which is necessary for the stability and contractility (i.e. the ability of the muscle to be able to contract). This lack of dystrophy ultimately leads to muscle weakness and atrophy.

A genetic analysis of the mother can be carried out to distinguish a new mutation from an inheritance (especially to determine the risk of recurrence in the event of a new pregnancy). In many cases, however, an increased muscle breakdown enzyme (CK) can also be detected in the asymptomatic mother.

Symptoms, ailments & signs

Muscular dystrophy is characterized by progressive muscle weakness. This predominantly affects certain areas of the body and usually occurs symmetrically. When and whether symptoms occur at all depends primarily on the type of muscular dystrophy. More than 30 different forms are known that are associated with different complaints.

In the case of the rather slowly progressing muscular dystrophy of the Becker-Kiener type, the muscle weakness initially shows in the area of ​​the thigh and pelvic muscles. The disease begins between the ages of six and twelve years, so that due to the slow course of the disease, most patients can walk up to the age of 30 or even 40. Only in later stages does the muscle weakness also affect the function of the lungs and heart.

Duchenne-type muscle wasting, however, progresses rapidly. The first symptoms appear in toddler age. The affected children trip more often and fall quickly. Around a third of those affected also suffer from calf pain and waddling.

Due to the progressive muscle weakness, patients with Duchenne muscular dystrophy are dependent on a wheelchair and full care before the age of 18. As a result of the dystrophy, the respiratory and cardiac output are increasingly restricted, so that fatigue, headaches and poor concentration can also occur.

Course of disease

The first symptoms appear in early childhood (Duchenne type) or in adolescence to early adulthood Muscle wasting (muscular dystrophy). It is characterized by progressive muscle weakness, which usually begins symmetrically in the pelvic and shoulder girdles. The actual muscle loss occurs later.

Fat tissue serves as a placeholder, which leads to optical hypertrophy (so-called gnome calves are typical). In the further course, the children or adults lose the ability to stand up without assistance and finally to walk. Since the muscular dystrophies cannot be cured, death occurs after many years (life expectancy for the Duchenne type approx. 25 years, for the Becker type significantly longer). The cause of death is usually poor breathing with resulting infections.

Complications

Muscle wasting can cause the heart muscle to thicken and weaken. Disorders of the heart rhythm and breathing are the result. Since the skeleton is no longer supported by the muscles, it can also happen that limbs are deformed and the spine becomes pathologically curved. In this case, the person concerned often suffers from severe back pain.

Misalignments of the joints cannot be ruled out due to the severe shortening caused by the regression of the muscles. In most cases, these can no longer be corrected. Problems with the respiratory muscles can arise in later phases of the course.It is then more difficult to breathe and the oxygen supply drops at night. This goes hand in hand with an increased susceptibility to diseases of the respiratory tract.

If patients no longer have the ability to change their lying position in bed, pressure sores on the skin on top are the result. This is also known as bedsores. All complications can be limited by medical treatment, but usually cannot be prevented. In general, it is the complications, not the muscle wasting itself, that ultimately lead to death.

When should you go to the doctor?

A continuous decrease in physical performance should be discussed with a doctor. If usual sporting or everyday obligations can no longer be fulfilled, a check-up visit with a doctor is advisable. Muscle pain, rapid physical overload of the person concerned, tiredness and exhaustion are indications of a health impairment.

If headaches, general malaise, an increased need for sleep and inner restlessness occur frequently, a doctor is required. A doctor should be consulted if the limbs are trembling, the body is incorrectly positioned or the range of motion is restricted. Irregular breathing, a general feeling of illness and visual abnormalities when moving must be examined. Often the affected persons stand out by waddling while moving forward.

If there are also behavioral problems, mood swings or other psychologically-related irregularities, a visit to a doctor is recommended. The physical changes threaten mental or emotional problems, which should be prevented in good time. An increased risk of accidents or falls must be taken into account in the event of muscle wasting. Therefore, a doctor should be informed of the special features if injuries occur repeatedly. If the victim's attention or concentration drops, he or she also needs medical help.

Treatment & Therapy

The therapy of Muscle wasting (muscular dystrophy) serves primarily to maintain muscle strength for a long time (and thus independence), to compensate for existing deficits and to avoid complications. An interdisciplinary therapy makes full sense. General practitioners, neurologists, physiotherapists, nursing staff and of course parents should also be involved. Likewise, the person affected should be able to lead a largely normal life. Attendance at school and work (e.g. in a special workshop for those affected) are desirable.

In addition to physiotherapy exercises, a wide variety of aids are available to compensate for deficits (e.g. electric wheelchair, lifts for transfers, eating and washing aids, etc.). It is not uncommon for the weakened back and abdominal muscles to lead to curvature of the spine. These should be corrected surgically in order to maintain the ability to sit. Treatment of respiratory failure is decisive for the prognosis.

In addition to physiotherapy and physiotherapy interventions, nocturnal positive pressure ventilation can significantly increase the prognosis and quality of life. Psychological support therapy for the often depressed patients should be offered.

You can find your medication here

➔ Medicines for muscle weakness

Outlook & forecast

A cure for muscular dystrophy is not yet possible today. However, the patient's quality of life can be significantly improved by treating the symptoms and performing professional physiotherapy. Respiratory therapy, heat applications, tap-and-pressure massage, electrotherapy and a combination of dynamic and isometric exercises are particularly helpful for those affected. It should be noted, however, that overworking and overworking of the muscles 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 milder cases of muscular dystrophy, can increase the patient's strength for some time. Professional psychological support for patients and their families is also important, as this incurable disease is a heavy burden. Self-help groups can also provide good support in this regard. In addition, if performed in good time, tendon-lengthening operations can increase the patient's ability to walk. The curvature of the spine that appears after a few years should also be corrected surgically in good time, as this has a negative impact on breathing.

Once the disease has affected the respiratory muscles, home ventilation should be used at night to improve breathing. Due to the fact that there is as yet no possibility of a cure for the disease, the life expectancy of patients with muscular dystrophy is rarely more than 25 years.

Aftercare

Aftercare for muscle wasting consists essentially of alleviating the symptoms and disabilities that arise. Physiotherapy is of great importance here. The mobility and residual functions of the muscles can be promoted through physiotherapy and occupational therapy. The physiotherapy should not be too strenuous, however, as you cannot be absolutely sure whether this will not have a negative effect in the end. The patients are also given hand rails or walking aids.

This enables them to compensate for the failure of individual muscle groups for as long as possible. Treatment of swallowing and speaking disorders later becomes important and necessary. However, these measures cannot avoid subsequent feeding via tubes - this is intended to prevent potential penetration of the food into the airways.

Supporting the breathing function reduces the effort required to breathe for the person concerned. Light strokes with the palms of the hands prove to be extremely beneficial. The same applies to gentle pouring of water - all the more so as the sensitive nerves remain intact for a lifetime. Diet is also an important factor - the right foods can certainly bring relief.

For example, high-protein drinks can improve muscle strength and quality of life in older, 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 wasting.

You can do that yourself

In the case of muscle wasting, those affected can do a lot to alleviate the symptoms and maintain their quality of life for as long as possible. Aids such as a gripper or a rollator promote independence and make everyday life easier. A raised toilet seat and a bathtub seat are also useful. Exercise, for example in the form of physiotherapy, is at least as important to slow down muscular dystrophy. Any kind of sport should, however, be discussed with the attending physician, because: The tissue is very sensitive to stretching when muscles are atrophied, so that not every sport is suitable.

In the case of muscular dystrophy, it is essential that the person concerned follows the doctor's instructions and, for example, regularly takes the prescribed medication. Physiotherapists can use tap-and-push massages and instruct the patient to do some exercises independently at home.

Since the diagnosis of muscle wasting can also affect emotional stability, it is also advisable to visit a self-help group. Here, those affected can make contact with other sick people and exchange ideas about their everyday life with muscular dystrophy. Regularly attending a self-help group also helps patients stay active, which is also very important in the case of muscle wasting.