Neuromuscular diseases (also known as muscle diseases or muscle disorders) have different characteristics and manifestations. They are rare. This is why they are relatively difficult to diagnose. Find out more about muscle diseases, their diagnosis and treatment here and find selected clinics for neuromuscular diseases.
The term neuromuscular disease is made up of the words "neuro" (relating to the nerve) and "muscular" (relating to the muscle).
This refers to diseases of the:
There are an estimated 800 different forms of these muscle diseases, which are rare overall. They are usually severe and severely restrict those affected in their everyday lives.
They affect, for example
Examples of neuromuscular diseases are
SMA is characterized by increasing paralysis of the arm and leg muscles as well as the swallowing and respiratory muscles @ Dr_Microbe /AdobeStock
In common parlance, the term muscle atrophy is often used . This is due to the fact that a decrease in muscle mass is the main symptom of most neuromuscular diseases.
It usually occurs together with muscle weakness. The muscle tissue is replaced by fat and connective tissue.
In some patients, these symptoms are limited to individual muscles. In others, they extend to the entire musculature.
Other typical symptoms of muscle diseases are
Depending on the form of the disease, respiratory muscles may be impaired. Breathing difficulties such as shortness of breath then occur. Sometimes the muscles responsible for swallowing are affected. This leads to difficulty swallowing.
In addition to the skeletal muscles, the respiratory musclescan also be affected @ ins /AdobeStock
If the heart muscles are affected by the muscle changes, this often results in cardiac arrhythmia.
When infants or small children suffer from muscle disorders, this is usually reflected in the slow development of their motor skills. For example, they find it more difficult to grasp, crawl or walk than children of the same age.
Many forms of neuromuscular diseases are hereditary. They are either congenital, i.e. present at birth, or in some cases only occur in adulthood.
Some neuromuscular diseases are caused by:
Metabolic disorders are also a possible cause of muscle diseases. This is the case with Pompe disease, for example, where there is an enzyme deficiency.
Alcohol abuse and diabetes are the most common causes of neuromuscular diseases , accounting for around 25 to 30 % each @ Axel Bueckert /AdobeStock
The diagnosis of muscle diseases is quite difficult. They are rare, so many doctors have little or no experience with them.
The suspicion of a muscle disease then arises late. There are also many different manifestations of the disease, which makes it difficult to narrow down the diagnosis.
The first clues are provided by the medical history. Here the doctor looks for obvious symptoms. If it is suspected that a muscle disease is present, special examinations are carried out :
Neurological electrodiagnostic methods such as electroneurography (ENG) and electromyography (EMG). An ENG provides information about nerve conduction, while an EMG shows muscle activity.
A blood test provides important information . The muscle enzyme creatine kinase accumulates more in the blood when muscles are damaged. An increase in the so-called CK value is therefore informative. However, this is also present after major muscle exertion.
To get a more precise picture, the treating physician uses imaging techniques such as ultrasound and MRI. This allows him to examine the muscular structures.
A muscle biopsy is also a method that hardens the suspicion of muscle disease. The doctor takes a small tissue sample from the muscle, which a laboratory examines for changes.
Some hereditary muscle diseases can also be diagnosed using special genetic analyses in the laboratory.
If sleep-related breathing disorders (sleep apnoea) are present, more precise diagnostics may be carried out in a sleep laboratory.
A muscle biopsyis often necessary for the diagnosis @ JK_kyoto /AdobeStock
Since neuromuscular diseases are rare, it makes sense to visit a specialized care center. Various doctors work together there on an interdisciplinary basis.
Specialists for muscle diseases are
Symptomatic treatment includes, for example
The exact treatment depends on the severity of the disease and the individual symptoms. Respiratory problems may require the use of respiratory aids.
.jpg "Reha bei neuromuskulären Erkrankungen")
The aim of rehab is to help those affected to become more independent and self-determined in everyday life @ auremar /AdobeStock
Psychological support is also useful, as the disease is usually very stressful for those affected.
If the heart muscle is severely stressed, there is the option of heart surgery. A heart transplant may also be necessary.
Whether medication is available depends on the form of the muscle disease.
Active substances are available for:
If the disease results in physical limitations, aids are available. If those affected find it difficult to walk, walking aids or wheelchairs can be used.
The German Society for Muscle Diseases offers those affected help in an independent aid advice center.
Neuromuscular diseases are generally incurable. It is difficult to make a prognosis, as the symptoms of the different forms of the disease vary greatly.
In most cases, however, they are progressive diseases. Doctors differentiate between rapidly progressing and barely progressing forms of the disease. These vary from disease to disease.
The aim is to stop or slow down progression and maintain or improve quality of life.
In the future, research in the field of gene therapy is expected to produce new therapeutic approaches that provide relief.
The Leading Medicine Guide's quality assurance is ensured by the following acceptance prerequisites.
