Dorothy FarrarMuscle wasting (muscular dystrophy)
The term muscle wasting refers to a serious inherited condition known in medical jargon as muscular dystrophy . This muscle disease leads to a continuous and irreversible breakdown of muscle tissue.
What is muscle wasting (muscular dystrophy)?
Muscle wasting (muscular dystrophy) is characterized by increasing weakness and progressive loss of muscle performance . A lack of protein , which is necessary as a basic building block for the growth and formation of muscle substance, leads to muscle atrophy.
The muscle wasting is basically based on a massive undersupply of the muscle cells by dystrophin. This special protein is required for building muscle tissue, especially muscle fibers.
Muscle wasting is also known as a hereditary disease. The term muscle wasting is a classifying term for all diseases of the muscle substance, which are characterized by a reduction in these structures. Muscle wasting disorders are known as dystrinopathies.
causes
Genetic factors are the sole cause of muscle wasting. Defects in some genes are very specific in this context. In childhood, this imbalance in protein supply can go unnoticed. In the course of life, however, muscle atrophy occurs as a result of this deficiency.
In addition to genetic causes, underuse of individual muscle groups is also the trigger for muscle atrophy, which, however, is related to individual areas of the body. Missing or faulty nerve stimuli due to polyneuropathy, various nerve diseases and other muscle diseases or prolonged immobilisation of individual muscle parts can also lead to partial or general muscle atrophy.
Untreated childhood illnesses such as polio or a so-called synomelia, impairment of the functionality of the spinal cord due to insufficient blood flow and squeezing spinal cord bleeding are other causes of muscle atrophy.
symptoms and course
Classic symptoms of muscle atrophy are bilateral joint misalignments and deformation of the bones of the extremities as well as curvature of the spine. Muscle atrophy is an inability to move in the affected areas of the body. The body regions involved show no muscle activity whatsoever and seem paralyzed.
At the onset of muscle wasting, there is pain in the calves. Affected children trip easily and often fall. In childhood it is impossible to realize a bilateral raising of the arms. Muscle wasting is usually characterized at a young age by an inability to walk.
The individual forms differ from each other. In addition to thickened calves and spherical calf shapes, there are abnormal positions of the shoulder blades. Typical of Duchenne muscle wasting are limitations in respiratory and cardiac function, permanent loss of performance, headaches and sometimes even painful symptoms in the advanced stage.
Diagnose
Muscle atrophy (muscular dystrophy) can already be announced in childhood – namely when a noticeable weakness of the muscles is observed. A well-founded diagnosis can provide more information here – it can be done by a pediatrician as well as by a family doctor or specialist. After a general physical examination with questioning of the patient or the parents regarding individual symptoms, various laboratory tests of the blood and urine are the focus of the diagnosis.
Even before the first symptoms appear, which indicate muscle atrophy, certain enzymes specific to the musculature are increased in the blood: This applies to creatine kinase (CK) as well as lactate dehydrogenase (LDH), which are found in the cells of the skeletal muscles and in the heart muscle are localized. In the case of muscle atrophy, ie when these muscle cells are destroyed, these enzymes (CK and LDH) are released and can be detected in the blood using special laboratory tests. An initial diagnosis is usually possible immediately after birth. The reduced value of creatinine in the urine is also typical of muscle atrophy.
Muscle wasting can weaken both skeletal muscle and heart muscle, which is why electromyogram (EMG) and electrocardiogram (ECG) are also used to diagnose muscular dystrophy. In addition, the doctor usually also performs an ultrasound examination . Sometimes there is also a magnetic resonance imaging . Tissue samples (muscle biopsy) and genetic tests are useful in order to ultimately differentiate between the specific forms of muscle atrophy.
complications
The loss of muscle strength leads to a decrease in internal forces. In many cases, in an advanced stage, the person concerned can no longer cope with everyday life without help. Emotional and mental problems arise from the helplessness, which contribute to further deterioration in health. In severe cases, mental disorders develop, which contribute to a significant decrease in the quality of life.
The reduced muscle strength is responsible for a decrease in the natural stabilization of the skeletal system. With increasing muscle atrophy, this leads to deformation of the bones. The consequences are a crooked spine, back pain or a changed appearance of the neck. Malpositions or problems with joint activity develop. The entire musculoskeletal system is severely impaired.
When the patient is confined to bed, pressure points can develop on the skin due to the low mobility. Ulcers of the overlying skin develop and open wounds form. There is a risk of sepsis because pathogens can get inside the body.
The disease is characterized by thickening of the heart muscle. This is limited in its way of working and no longer supplies the organism adequately. The consequences are disturbances in cardiac activity and respiratory impairments. Most patients do not die from the diagnosed muscle atrophy but from the complications or subsequent symptoms of the disease.
treatment and therapy
Symptomatic treatments that focus on the alleviation and reduction of individual symptoms are particularly suitable as therapy for muscle atrophy. In addition to the prescription of special medical aids for locomotion and for coping with everyday activities, some medications are also the focus of treatment. Unfortunately, muscle atrophy cannot currently be treated directly and successfully.
Physiotherapy exercises are also the focus of the therapies in order to maintain the existing performance capability of the muscles and to stimulate muscle growth.
Since physiotherapy can hardly include physical movements by those affected, only passive forms of movement are selected. In addition, specific physiotherapeutic procedures such as a so-called tapping technique represent sensible treatment options.
In addition to drug and physiotherapy therapy, surgical interventions are sometimes used. These are indicated when severe malpositions and bone deformations are evident, which limit those affected enormously and become painful.
Scoliosis due to muscle wasting can also be treated with surgery . The aim of the surgical procedures is to preserve the ability to walk as much as possible.
It is not possible to prevent muscle wasting. Early gene damage and the resulting muscle wasting can be detected early by genetic testing and by observing familial accumulation.
outlook and prognosis
The prognosis of muscle wasting is unfavorable. The course of the disease is progressive and there is no prospect of a cure for the genetic disease with the current options. Since, for legal reasons, no changes can be made to human genetics, treatment can only be symptomatic.
With muscular dystrophy, doctors focus on slowing the progression of the disease. This should be prevented for as long as possible or minimized in its extent. Timely and extensive use of medical care is crucial to the success of this approach. Muscle strength is promoted and supported in targeted exercises and training sessions. The cooperation of those affected is important for this. The physiotherapy exercises should be carried out independently in addition to the fixed therapy appointments.
Nevertheless, the progression of the disease cannot be stopped completely. With an increase in symptoms, the patient’s helplessness increases. Mental and emotional irregularities usually increase. If the symptoms and developments also lead to a psychological sequelae, the quality of life decreases further. In addition, many patients experience impaired breathing and a weakened cardiovascular system.
As a special feature of muscular dystrophy, the complications of muscle atrophy are often listed as the cause of death and less so the disease itself. The undersupply of the organism often leads to cardiac arrest.
Hello and welcome to my Health Guide & Encyclopedia! My name is Dorothy Farrar, and I'm the founder and main author of this platform.
My passion for health and wellness started at a young age when I became interested in the connection between the food we eat and the way we feel. This fascination led me to study nutrition and dietetics in college, where I learned about the importance of a balanced diet and the impact of various nutrients on the body.