Facioscapulohumeral muscular dystrophy is a so-called dystrophic disease of the muscles. In the majority of cases, the disease begins in the area of the face as well as the shoulder girdle. Facioscapulohumeral muscular dystrophy is a relatively rare disease. It occurs in only one to five people in 100,000. In addition, the disease usually begins between the ages of 10 and 20. In principle, however, it is possible for facioscapulohumeral muscular dystrophy to occur in young children as well as adults.
What is facioscapulohumeral muscular dystrophy?
Facioscapulohumeral muscular dystrophy is also known synonymously in some cases as Landouzy-Dejerine muscular dystrophy. The common abbreviation of the term is FSDH. In principle, it is a muscle disease, indicated by the medical term myopathy. The full name refers to the body regions most commonly affected by the disease. These are the face, the muscles of the shoulder girdle as well as the upper arm. Facioscapulohumeral muscular dystrophy is usually genetic and is passed on in an autosomal dominant manner. In the majority of cases, facioscapulohumeral muscular dystrophy presents in adolescents and young adults. About one fifth of all affected patients are dependent on a wheelchair for mobility due to facioscapulohumeral muscular dystrophy. However, comparative examination with other dystrophies of the muscles reveals that facioscapulohumeral muscular dystrophy is often rather mild.
Causes
The causes of facioscapulohumeral muscular dystrophy are primarily genetic. The mode of inheritance of the disease is autosomal dominant. The basis for inheritance is formed by so-called repeat sequences, which are polymorphic. They are located on chromosome number 4. However, the causative defect in the gene has not yet been discovered. Basically, facioscapulohumeral muscular dystrophy is due to changes in the structure of skeletal muscles. As a result, progressive weakness of the affected muscles develops. In addition, muscle atrophy is possible.
Symptoms, complaints, and signs
In the context of facioscapulohumeral muscular dystrophy, various symptoms and symptoms of the disease appear, which differ from person to person with regard to their respective manifestations. At the beginning of the disease, the symptoms are usually concentrated in the area of the shoulder girdle and the corresponding musculature. Initial symptoms also appear in the area of the face. These primarily include paresis as well as atrophy of the local muscles. A certain facial expression is typical for facioscapulohumeral muscular dystrophy. The mouth is partially pointed and resembles a pout. Basically, the muscles at the shoulders are atrophic. The so-called deltoid muscle is not affected by the facioscapulohumeral muscular dystrophy. As a result, a pronounced crease develops between the chest and axilla. In some cases, the disease gradually extends to the muscles of the lower legs as well as the pelvis. Another typical symptom of facioscapulohumeral muscular dystrophy is hearing loss of the inner ear. In addition, the vessels in the area of the retina of the eye may change. In principle, the differences between individuals in terms of the symptoms shown are very large. Sometimes paralysis of almost all muscles of the body is possible, but this is relatively rare. Especially at the beginning of facioscapulohumeral muscular dystrophy, the muscles of the face are weakly to slightly paralyzed. Also, the ring muscles of the eyes are often affected by paralysis, so that the eyelids cannot be completely closed. As a result, it is not possible for some patients to sleep with their eyelids closed. The medical term for paralyzed eyelids is lagophthalmos.
Diagnosis
The diagnosis of facioscapulohumeral muscular dystrophy must be made by means of various examinations, which must be performed by an appropriate specialist. If a person suffers from characteristic symptoms, the first step is to contact a physician.The physician discusses the symptoms with the patient and takes the patient’s medical history. The clinical symptoms of the disease also play an important role. Facioscapulohumeral muscular dystrophy can be diagnosed with relative certainty with the aid of molecular genetic testing. Blood analyses show elevated levels of pyruvate kinase. Electromyography is also helpful for diagnosis. When a biopsy of the muscles is performed, typical histological findings are seen. Atrophic and hypertrophied fiber types appear.
Complications
Facioscapulohumeral muscular dystrophy results in significant limitations of the muscles around the face. Complications usually vary according to the type and severity of the disease. Patients experience the first symptoms in the area of the face, where certain muscle groups can no longer be controlled and moved properly. This results in a permanent facial expression for the patient, which usually cannot be easily changed. Sometimes a wrinkle develops over time, located between the armpits and the chest. The symptom may also continue to spread to the pelvis and lower leg, affecting the muscles in these regions as well. In most of the patients, hearing loss also develops, so that the quality of life is greatly reduced. Everyday life is more difficult for the patient and social contacts can suffer from the permanent facial expressions. Self-esteem also drops in most patients. In the worst case, paralysis can occur over the entire body, so that the patient is subject to a complete restriction of movement. A specific and causal treatment is not possible, but the symptoms can be treated and reduced with physiotherapy. The disease does not usually reduce life expectancy.
When should you see a doctor?
With this disease, the affected person is always in need of medical treatment. There is usually no self-healing, and the disease can also significantly limit the development of children. A doctor should be consulted if the affected person suffers from discomfort in the face or in the area of the shoulders. In this case, it is mainly the muscles that are affected by the disease and can no longer be moved easily. Furthermore, hearing loss may also indicate this disease and must be investigated. This can prevent complications in adulthood. Paralysis or various sensory disturbances can also occur and also indicate the disease. However, the severity of the paralysis varies in most affected individuals. Usually, the disease can be diagnosed by a pediatrician or by a general practitioner. Early diagnosis has a very positive effect on the further course of the disease. Treatment of the disease can be done through various therapies and treatments. This limits some of the symptoms. However, a complete cure of the disease is not possible. If the affected person also suffers from psychological complaints, a visit to a psychologist is advisable.
Treatment and therapy
In principle, only symptomatic treatment options exist for facioscapulohumeral muscular dystrophy. This is because, since it is a hereditary disease, causal therapy of the disease is not possible. Physiotherapy plays an important role. In some patients, occupational therapy is also useful. Sometimes the symptoms are briefly alleviated by the administration of creatinine or clenbuterol. In therapy, it should be noted that facioscapulohumeral muscular dystrophy is not curable. Therefore, therapeutic efforts focus on improving the quality of life of affected individuals. However, affected individuals have an average life expectancy.
Outlook and prognosis
The prognosis of facioscapulohumeral muscular dystrophy is unfavorable because no cure can be achieved. The disease is based on a genetic defect that is not causally treatable. Due to legal requirements, intervention in the genetics of humans is not allowed. Doctors therefore focus treatment on alleviating the existing symptoms. In this context, early support of the affected person is of elementary importance for the success of medical care.The quality of life of the sufferer is significantly improved as soon as therapy is used. In addition, self-responsible training and exercises of the musculature should be carried out between the agreed appointments. Without medical care, sufferers complain of a much greater reduction in their well-being. Moreover, an increase in impairment is to be expected. The average lifespan is not normally reduced by facioscapulohumeral muscular dystrophy. However, the visual changes in the facial features can lead to emotional and mental problems. This significantly increases the risk of secondary diseases or psychological disorders for the affected person. The prognosis worsens as soon as the affected person does not pursue self-help measures. A permanently reduced quality of life can lead to a weakening of the organism and a spreading of existing complaints.
Prevention
Prevention of facioscapulohumeral muscular dystrophy is not currently possible because it is an inherited disorder. Instead, the focus is on symptomatic therapy of the disease, primarily through physiotherapy.
Aftercare
The affected person usually has no or very few aftercare measures available for this disease. Here, attention should be paid primarily to early diagnosis with subsequent treatment to prevent further complications or discomfort. An early diagnosis always has a very positive effect on the further course of the disease and can limit further complaints. The earlier a doctor is consulted, the better the further course of the disease usually is. In any case, the patient should take it easy and not exert himself unnecessarily. Physical activities are not advisable. Furthermore, physiotherapy measures are also necessary. Many of the exercises from such therapy can also be repeated at home, which may speed up the healing process. The help and care of friends and family can also alleviate the symptoms and make everyday life much easier for the person affected. In most cases, loving and intensive conversations are also necessary to prevent psychological upsets or depression. No general statement can be made about the life expectancy with this disease.
This is what you can do yourself
In the daily management of the disease, the patient needs mental stabilization. To cope with the challenges posed by the symptoms and the course of the disease, relaxation techniques are recommended. With them, stress can be reduced and an inner balance is established. Yoga, meditation or autogenic training have often proven effective in alleviating cognitive stress and improving quality of life. Talking to relatives, confidants or other sufferers also helps to talk about fears or experiences. In self-help groups or forums, an exchange can take place in which experiences are reported and mutual tips and assistance are given. To support the muscles, an adequate supply of warmth and the avoidance of drafts help. The body should be sufficiently moved depending on the available possibilities to strengthen the well-being and the intact musculature. With a healthy diet and the avoidance of harmful substances such as nicotine or alcohol, the patient supports his health and promotes the immune system. Regular leisure activities should be planned and carried out to build up the zest for life. Social contacts and a positive basic attitude help to overcome obstacles in everyday life. An open approach to the disease and the existing complaints supports mutual understanding and creates an atmosphere of trust.
