Muscle wasting, or more technically called muscular dystrophy, is a muscle disease that is mainly 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 to slow down the disease and relieve symptoms associated with muscle wasting.
What is muscle wasting (muscular dystrophy)?
Muscular dystrophy (also known as muscle wasting) is an umbrella term for various primary (i.e. without any other underlying disease) degrading muscle diseases. More than 30 different subclasses of muscular dystrophies are known. See deluxesurveillance for Arteriovenous Fistula Guide.
The most common, however, are the Duchenne muscular dystrophy (with around 1:5000 most common muscle diseases in childhood) and the Becker-Kiener type (adult form with a somewhat more favorable prognosis and slower course). Other subforms are rare.
What all types have in common is that the diseases are accompanied by progressive, usually symmetrical muscle weakness with subsequent muscle atrophy.
Muscle wasting or muscular dystrophy is not based on an external cause, but is almost exclusively inherited. The inheritance is usually X-chromosomal recessive, i.e. the genetic defect is located on the X chromosome and in order to become ill, both X chromosomes would have to be affected. Therefore, as a rule, only male individuals are affected, as they do not have a second X chromosome and a genetic defect thus leads to the development of the disease.
The defective gene can only be transmitted by the mother (she is the carrier), but she herself is not manifestly affected. Of course, new mutations (i.e. without any inheritance of existing genetic defects) are also possible. The genetic defect causes a reduced amount (Becker type) or a complete breakdown of dystrophin (Duchenne), a building block of skeletal muscle that is necessary for stability and contractility (i.e. the ability of the muscle to contract). This lack of dystrophy ultimately leads to muscle weakness and wasting.
In order to differentiate a new mutation from an inheritance (especially to determine the risk of recurrence in the case of a new pregnancy), a genetic analysis of the mother can be carried out. 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 mainly affects certain parts of the body and usually occurs symmetrically. When and if there are any symptoms at all depends primarily on the form of the muscular dystrophy. More than 30 different forms are known, which are associated with different symptoms.
In the rather slowly progressing muscular dystrophy of the Becker-Kiener type, muscle weakness first appears in the thigh and pelvic muscles. The disease begins between the ages of six and twelve, so that the ability to walk is maintained in most patients until the age of 30 or even 40 due to the slow course of the disease. Only in later stages does the muscle weakness also affect the function of the lungs and heart.
Duchenne-type muscle wasting, on the other hand, progresses rapidly. The first symptoms appear in infancy. Affected children trip more often and fall easily. Around a third of those affected also suffer from calf pain and a waddling gait.
Due to 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, respiratory and cardiac output are increasingly restricted, which can also lead to fatigue, headaches and poor concentration.
Course of the disease
The first symptoms of muscle atrophy (muscular dystrophy) appear in early childhood (Duchenne type) or in adolescence to early adulthood. A progressive muscle weakness is characteristic, which usually begins symmetrically in the pelvic and shoulder girdle. The actual muscle atrophy occurs later.
Fatty tissue serves as a placeholder, which leads to optical hypertrophy (the so-called gnome calves are typical). As the disease progresses, the children or adults lose the ability to stand up unaided and eventually walk. Since muscular dystrophies cannot be cured, death occurs after a long course (life expectancy in the Duchenne type is around 25 years, in the Becker type significantly longer). The cause of death is usually respiratory failure with resulting infections.
Muscle atrophy 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 is bent in a pathological way. In this case, the person affected often suffers from severe back pain.
Malpositions of the joints cannot be ruled out due to the strong shortening that occurs due to the atrophy of the muscles. These can then usually no longer be corrected. In later stages of the course, problems with the respiratory muscles can develop. Breathing then becomes more difficult and there is a drop in oxygen supply at night. This is associated with an increased susceptibility to respiratory diseases.
If patients are no longer able to change their lying position in bed, pressure sores on the overlying skin are the result. This is also known as bed sores. All complications can be limited by medical treatment, but usually cannot be prevented. Generally, it is the complications, and not the muscle wasting itself, that eventually lead to death.
When should you go to the doctor?
A continuous reduction in physical performance should be discussed with a doctor. If you can no longer perform your usual sporting or everyday obligations, we recommend that you see a doctor for a check-up. Pain in the muscles, a 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 needed. A doctor should be consulted if the limbs tremble, the body has a bad posture or there are restrictions on the range of motion. An irregularity in breathing, a general feeling of illness and visual abnormalities in locomotion must be examined. The affected persons often stand out due to a waddling gait when moving forward.
If there are additional behavioral problems, mood swings or other psychologically-related irregularities, a doctor’s visit 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 case of muscle atrophy. Therefore, a doctor must be informed of the specifics if injuries occur repeatedly. If the affected person’s attention or concentration drops, they also need medical help.
Treatment & Therapy
The main purpose of treating muscle wasting (muscular dystrophy) is to maintain muscle strength for a long time (and thus independence), to compensate for existing deficits and to avoid complications. Interdisciplinary therapy makes absolute sense. Family doctors, neurologists, physiotherapists, physiotherapists, nursing staff and of course the parents should be involved. The person concerned should also be able to lead a largely normal life. School visits and work (eg in a special workshop for those affected) should be aimed for.
In addition to physiotherapy exercises, a wide variety of aids are available to compensate for deficits (e.g. electric wheelchairs, lifters for transfers, eating and washing aids, etc.). It is not uncommon for spinal curvature to occur due to the weakened back and abdominal muscles. These should be surgically corrected to maintain the ability to sit. The treatment of the respiratory weakness is decisive for the prognosis.
In addition to physiotherapy and physiotherapeutic interventions, nocturnal positive pressure ventilation can significantly improve the prognosis and quality of life. Psychological concomitant therapy of the often depressive patients should be offered.
Outlook & Forecast
A cure for muscular dystrophy is not yet possible. However, the quality of life of the patient can be significantly improved through treatment of the symptoms and professional physiotherapy. Those affected are particularly helped by respiratory therapy, heat applications, tapping and pressure massage, electrotherapy and a combination of dynamic and isometric exercises. However, it should be noted that overstraining and overexertion 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 also increase the patient’s strength for some time. Professional psychological care 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, tendon-lengthening operations, if performed in good time, can extend the patient’s ability to walk. The curvature of the spine that occurs after a few years should also be surgically corrected in good time, as this has a negative impact on breathing.
Once the disease has affected the respiratory muscles, nocturnal home ventilation should be used to achieve improvement in breathing. Due to the lack of a cure for the disease, the life expectancy of patients with muscular dystrophy rarely exceeds 25 years.
Aftercare for muscle atrophy essentially consists of alleviating the symptoms and disabilities that occur. Physiotherapy is of great importance in this regard. Physiotherapy and ergotherapy can be used to promote mobility and residual muscle function. However, the physiotherapy should not be too strenuous, as you cannot be sure that this will not have a negative effect in the end. Patients are also given hand splints or walking aids.
This enables them to compensate for the loss of individual muscle groups for as long as possible. Later, the treatment of swallowing and speech disorders turns out to be important and necessary. However, these measures cannot prevent subsequent feeding via tubes – this is intended to prevent the food potentially entering the airways.
Supporting the respiratory function reduces the effort for those affected to breathe. Slight strokes via the palms of the hands prove to be extremely beneficial. The same applies to gentle water showers – all the more so as the sensitive nerves remain intact for life. Diet is also an important factor – the right foods can certainly bring 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 protect them from the downward spiral of aging – including muscle atrophy.
You can do that yourself
When people suffer from muscle wasting, there are a number of things they can do to relieve the symptoms and maintain their quality of life for as long as possible. Aids such as a gripper or a walker promote independence and make everyday life easier. A raised toilet seat and a bath seat are also sometimes useful. Exercise is at least as important, for example in the form of physiotherapy, to slow down muscular dystrophy. However, any type of sport should be discussed with the doctor treating you, because: The tissue is very sensitive to stretching when the muscles are atrophied, so that not every type of sport is suitable.
In principle, it is essential in the case of muscular dystrophy that the person concerned follows the doctor’s instructions and, for example, takes the prescribed medication regularly. Physiotherapists can use tapping and pressure massage and guide 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 support group. Here those affected can make contact with other sufferers and talk about their everyday life with muscular dystrophy. Regular attendance at a support group also helps patients stay active, which is also important when dealing with muscle wasting.