In addition to the typical clinical symptoms, which are more pronounced in different muscle groups depending on the type and often already point the physician in the direction of the diagnosis, laboratory tests and functional tests lead to the diagnosis. In the case of muscular dystrophies, there is typically an increase in muscle enzymes in the blood, which is due to the massive loss of muscle mass.
In all forms of muscle wasting, typical changes are seen in electromyography. Muscle activity is pathologically altered – in the dystrophies one sees many small discharges, in the nerve-related forms there is a massive decrease in single discharges. Muscle biopsy and genetic testing can be used to conclusively differentiate the individual forms.
What can be done about muscle atrophy?
Muscular atrophy diseases are not yet curable, but many affected individuals and their relatives place great hope in gene therapy. Although research into the genetic defect, its effects on the body, and possible countermeasures is being conducted in many research institutions around the world, a genetically engineered remedy for even one form of muscle wasting has unfortunately not yet been found.
All therapeutic measures are therefore aimed at compensating for and halting the loss of movement and coordination caused by the muscle atrophy. In addition, secondary symptoms such as contractures, wheelchair-related walking difficulties or respiratory diseases caused by the reduced coughing activity must be treated. Since many forms of muscular atrophy are extremely stressful for those affected and often represent an enormous care burden for their relatives, tips for the daily management of the disease are very welcome.
Support groups for muscle atrophy
Many self-help groups and the initiatives Deutsche Muskelschwundhilfe and Deutsche Gesellschaft für Muskelkranke have many years of experience with the various forms of muscle atrophy to show. The Weserbergland-Klinik Höxter is the specialist clinic for muscle diseases in Germany.
Especially for patients with more severe forms of muscle atrophy, the clinic program helps to stop progression of the disease. It consists of:
- Intensive physiotherapy
- Water gymnastics
- Heat baths
- Massages
- Stimulation current treatment
- Muscle training
Patients who undergo the clinic program for several weeks each year report improvements in symptoms that last for months.
Can muscle wasting disease be prevented?
Because almost all forms of muscle wasting are hereditary, they cannot be prevented. The tricky thing about them is that they often follow an autosomal or X-linked recessive mode of inheritance. In plain language, this means that apparently healthy people can be carriers of the disease and the disease is thus passed down through generations without a family member necessarily becoming ill.
Testing whether someone is a carrier of one of the many forms of muscular atrophy is not possible at present and, given the quite variable course of many forms, is perhaps only desirable to a limited extent, also with regard to ethical and moral aspects of the consequences.
