A characteristic waddling gait is often noticed in the early stages – muscle atrophy, also called muscular dystrophy, is one of the neuromuscular diseases. It can already affect children. But what exactly is it?. How the disease becomes noticeable?
Different types of muscle atrophy
In muscle atrophy, the musculature regresses. Different parts of the body can be affected. This includes mainly the arms, legs and trunk, the face, the eyes, and the heart, swallowing and breathing muscles.
The phenomenon is triggered by the death of the muscle cells themselves or by the death of the nerve cells that supply the muscles. Another variant of neuromuscular diseases that causes similar symptoms is impaired impulse transmission between nerves and muscles.
The different forms of muscle wasting are named after their discoverers: Duchenne, Becker-Kiener, Werdnig-Hoffmann, Kugelberg-Welander. In children, it is usually the Duchenne or Becker-Kiener form. The former is the most common form of muscular dystrophy. It is hereditary. Already occurs in young children. Only boys are affected, one in 3,500 male newborns to be exact. The latter is rarer, can also occur at school age or later and is usually less pronounced or at least slower.
How the disease manifests itself?
Symptoms depend on the type of muscular atrophy, the progress of the disease, the age at which it occurs and the treatment given. Movements controlled by the responsible muscle groups are always restricted or even impossible.
The first signs of pre-existing muscle atrophy in children can already appear in the womb; the infant moves conspicuously little. If a child is born with muscular atrophy, he or she may have to struggle with a pronounced weakness in drinking from an early age, which can lead in part to failure to thrive. Motor development is also noticeable: the infant has problems lifting his head, sitting alone and learning to walk.
If a child becomes ill when he or she is already able to walk, he or she loses the muscle strength that has been built up and the ability to move that goes with it. There may be frequent, clumsy-looking stumbling, perhaps climbing stairs is suddenly difficult or the child can only stand up with support.
Parents often notice a characteristic waddling gait in their children in the early stages of the disease. Particularly strong calves are deceptive – they are not due to muscles but to fat deposits. If the condition progresses, there will be increasingly limited ability to walk, up to and including a hunched posture or an excessively hollow back. In extreme cases, the limited motor function can lead to the child being dependent on a wheelchair.
The curved posture accelerates further progression of the disease, as the respiratory muscles are impaired: The lung capacity and thus the oxygen supply of the entire organism decreases. Susceptibility to respiratory infections increases and there is a risk of respiratory failure and heart failure.
The course of muscle atrophy depends very much on the age at which it occurs and the stage at which it is treated. In early forms, the condition usually worsens more quickly than in later disease without appropriate therapy. In Duchenne muscular dystrophy, children usually lose their ability to walk at the age of 8-15 years. Are dependent on a wheelchair from this point on. Life expectancy is greatly reduced, but can extend beyond the age of forty thanks to newer therapeutic approaches.
Causes and diagnosis
The common forms of muscle atrophy that affect newborns or young children are usually genetic: Due to damage in the hereditary disposition, the protein dystrophin, which is necessary for muscle metabolism, is missing or insufficiently present, which leads to the death of the muscle cells. Detection can be made by genetic testing. A muscle biopsy is performed. Since the muscle enzymes in the blood increase with the degeneration of the muscles, a laboratory examination is also possible. Electromyography provides further information – it can detect abnormalities in muscle activity.
treatment in children
If you notice abnormalities in the ability to move together with other developmental delays or behavioral problems in your child, you should consult a doctor immediately. Early diagnosis is important in order to initiate appropriate therapy. Muscular atrophy is not considered curable, but timely treatment can have a positive effect on its course.
Research is still being conducted into possible genetic engineering measures, so treatment starts with the symptoms and the affected muscle groups.The goal of symptomatic treatment is to maintain the best possible functional ability and an associated quality of life.
Furthermore, the treatment is aimed at preventing or stopping possible sequelae such as respiratory diseases. Physical and occupational therapy are used to maintain mobility as much as possible and, if necessary, to prescribe and adapt aids. Medication can also be used (e.g.B. Cortisone) and surgical procedures may be part of the therapy and in some cases regular respiratory training or home ventilation at night (with a respiratory mask) may be necessary.
As far as possible, the quality of life of affected children should be maintained. Since the limitations associated with muscular atrophy always represent a burden and have an impact on social life, psychological stabilization is important in addition to physical treatment. This also affects the parents – the care for the child. The amount of care required must be managed. Siblings often also need advice and help.
All affected persons can consult a psychologist. In addition, support is available from self-help groups such as the Deutsche Muskelschwundhilfe (German Muscular Dystrophy Association) or the Deutsche Gesellschaft fur Muskelkranke (German Muscular Dystrophy Society).