When fazioskapulohumeralen muscular dystrophy is a so-called dystrophic disease of the muscles. The disease begins in the majority of cases in the area of the face and the shoulder girdle. Facioscapulohumeral muscular dystrophy is a relatively rare disease. It occurs in only one to five people in 100,000 people. In addition, the disease usually begins between the ages of 10 and 20. In principle, however, it is possible that facioscapulohumeral muscular dystrophy also occurs in young children and adults.
What is Facioscapulohumeral Muscular Dystrophy?
According to Eshaoxing, facioscapulohumeral muscular dystrophy is also referred to synonymously as Landouzy-Dejerine muscular dystrophy in some cases. The common abbreviation for the term is FSDH. In principle, it is a muscle disease, which the medical term myopathy indicates.
The full name refers to the areas of the body most commonly affected by the disease. These are the face, the muscles of the shoulder girdle and the upper arm. Facioscapulohumeral muscular dystrophy is usually genetic and is passed on in an autosomal dominant way.
Facioscapulohumeral muscular dystrophy occurs in the majority of cases in adolescents and young adults. About a fifth of all affected patients are dependent on a wheelchair in order to get around due to the facioscapulohumeral muscular dystrophy. A comparison with other dystrophies of the muscles shows, however, that the facioscapulohumeral muscular dystrophy is often rather mild.
The reasons for the development of facioscapulohumeral muscular dystrophy are primarily genetic. The inheritance of the disease is autosomal dominant. So-called repeat sequences, which are polymorphic, form the basis for inheritance. They are on chromosome number 4. However, the causal defect in the gene has not yet been discovered.
Basically, facioscapulohumeral muscular dystrophy is due to changes in the structure of the skeletal muscles. As a result, a progressive weakness of the affected muscles develops. Muscle atrophy is also possible.
Symptoms, ailments & signs
In the context of facioscapulohumeral muscular dystrophy, various symptoms and disease complaints appear, which differ from person to person in terms of their severity. At the onset of the disease, the symptoms are usually concentrated in the shoulder girdle area and the corresponding muscles. The first symptoms also appear in the area of the face. These primarily include paresis and 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 on the shoulders are atrophic. The so-called deltoid muscle is not affected by the facioscapulohumeral muscular dystrophy.
As a result, a pronounced fold develops between the chest and armpit. In some cases, the disease gradually spreads 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 individual people with regard to the symptoms shown are very large. Sometimes almost all muscles in the body can be paralyzed, but this only happens relatively rarely.
Especially at the beginning of the facioscapulohumeral muscular dystrophy, the muscles of the face are weak to slightly paralyzed. The circular muscles of the eyes are also often affected by paralysis, so that the eyelids cannot be completely closed. As a result, some patients find it impossible to sleep with their eyelids closed. The medical term for the paralyzed eyelids is lagophthalmus.
The diagnosis of facioscapulohumeral muscular dystrophy is to be made by means of various examinations that are to be carried out by an appropriate specialist. If a person has characteristic symptoms, the first step is to contact a doctor. The latter discusses the complaints with the patient and takes the anamnesis.
The clinical symptoms of the disease also play an important role. Facioscapulohumeral muscular dystrophy can be diagnosed relatively reliably with the help of a molecular genetic examination. When blood tests increased values in the pyruvate kinase show. Electromyography is also helpful for diagnosis. When performing a biopsy of the muscles, typical histological findings show. Atrophic and hypertrophied types of fiber occur.
Facioscapulohumeral muscular dystrophy leads to significant limitations in the muscles in the face. The complications usually differ according to the type and severity of the disease. The patients suffer the first symptoms in the area of the face, whereby certain muscle groups can no longer be properly controlled and moved.
This creates a permanent facial expression for the patient, which usually cannot be easily changed. Sometimes, over time, a crease will develop between the armpits and the chest. The symptom can continue to spread to the pelvis and lower leg and affect the muscles in these regions as well.
Most of those affected also develop a hearing loss, so that the quality of life is greatly reduced. Everyday life is more difficult for the patient and social contacts can suffer from permanent facial expressions. Most patients also have lower self-esteem.
In the worst case, the entire body can be paralyzed, so that the patient is subject to complete mobility restrictions. Targeted 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 go to the doctor?
With this disease, the person concerned is always dependent on medical treatment. As a rule, there is no self-healing, although the disease can also significantly limit the development of children. A doctor should then be consulted if the person concerned suffers from discomfort in the face or shoulders.
The muscles in particular are affected by the disease and can no longer be moved easily. Furthermore, hearing loss can also indicate this disease and must be examined. This can prevent complications in adulthood. Paralysis or various sensory disorders can also occur and also indicate the disease. However, the extent of the paralysis is different for most of those affected.
Usually the disease can be diagnosed by a pediatrician or a general practitioner. An 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 will limit some ailments. However, a complete cure of the disease is not possible. If those affected also suffer from psychological complaints, a visit to a psychologist is advisable.
Treatment & Therapy
In principle, facioscapulohumeral muscular dystrophy only offers symptomatic treatment options. Because it is a hereditary disease, a causal therapy of the disease is not possible. Physiotherapy plays an important role.
For some patients, occupational therapy is also useful. Sometimes the symptoms are relieved briefly by the administration of creatinine or clenbuterol. During therapy, it should be noted that facioscapulohumeral muscular dystrophy cannot be cured. Therefore the improvement of the quality of life of the sick person is the focus of the therapeutic efforts. However, those affected have an average life expectancy.
Outlook & forecast
The prognosis for facioscapulohumeral muscular dystrophy is unfavorable as no cure can be achieved. The disease is based on a genetic defect that cannot be treated causally. Due to legal requirements, interference with human genetics is not permitted. Doctors therefore focus treatment on alleviating the existing symptoms. Early support for the person affected is of fundamental importance for the success of medical care.
The patient’s quality of life is significantly improved as soon as therapy is used. In addition, independent training and exercises for the muscles should be carried out between the agreed appointments. Without medical care, those affected complain of a far greater reduction in their wellbeing. An increase in impairments is also to be expected.
Facioscapulohumeral muscular dystrophy does not normally reduce the average lifespan. However, the visual changes in facial features can lead to emotional and mental problems. This significantly increases the risk of secondary illnesses or mental disorders for those affected. The prognosis worsens as soon as the person concerned does not pursue self-help measures. A permanently reduced quality of life can weaken the organism and spread existing complaints.
Prevention of facioscapulohumeral muscular dystrophy is currently not possible because it is an inherited disease. Instead, the focus is on symptomatic therapy of the disease, which is primarily carried out through physiotherapy.
As a rule, those affected have no or only very few follow-up measures available for this disease. Here, attention should primarily be paid to an early diagnosis with subsequent treatment in order to prevent further complications or complaints. An early diagnosis always has a very positive effect on the further course of the disease and can limit further symptoms.
The earlier a doctor is consulted, the better the further course will usually be. In any case, the person affected should take it easy with this disease and not exert himself unnecessarily. Physical activity is not recommended. Physiotherapy measures are also necessary. Many of the exercises from such a therapy can also be repeated in your own home, which may accelerate healing.
Help and care from friends and family can also alleviate the symptoms and make everyday life much easier for those affected. In most cases, loving and intensive discussions are necessary so that there are no psychological upsets or depression. No general statement can be made about life expectancy for this disease.
You can do that yourself
In dealing with the disease on a daily basis, the patient needs mental stabilization. Relaxation techniques are recommended to cope with the challenges posed by the symptoms and the course of the disease. With them, stress can be reduced and an inner balance is established. Yoga, meditation or autogenic training have proven themselves many times over to relieve cognitive stress and improve quality of life.
Conversations with relatives, confidants or other sick people also help to talk about fears or experiences. An exchange can take place in self-help groups or forums, in which experiences are reported and mutual tips and assistance are given. A sufficient supply of heat and the avoidance of drafts help to support the muscles. Depending on the possibilities available, the body should be moved enough to strengthen well-being and to strengthen the intact muscles.
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 joie de vivre. Social contacts and a positive attitude help to overcome obstacles in everyday life. An open approach to the illness and the existing complaints supports mutual understanding and creates a trusting atmosphere.