Emery Tripod Muscular Dystrophy

Comprehensive Guide to Emery Tripod Muscular Dystrophy

The Emery-Dreifuss muscular dystrophy is a hereditary disease, which takes place on a mutation and is associated with muscle weakness and wasting. Two forms of the disease with different inheritance patterns are known to date. The therapeutic measures primarily include physiotherapy.

What is Emery tripod muscular dystrophy?

According to POLYHOBBIES.COM, the disease group of muscular dystrophies comprises a number of progressive muscle diseases that can be assigned to hereditary diseases and arise on the basis of a mutation in the genome. Muscular dystrophies are usually caused by a defect or deficiency in muscle proteins. The result is muscle weakness, which later causes muscle wasting.

The changes in the muscle tissue are progressive and are also called dystrophic changes. A disease from the group of muscular dystrophies is Emery Dreifuss muscular dystrophy. The disease was first described as an independent muscular dystrophy towards the middle of the 20th century. The term Hauptmann-Thannhauser syndrome is a synonym for the hereditary disease.

There are two different forms of the disease, both of which are inheritable and differ only in the localization of the affected genes and the respective inheritance. Like all muscular dystrophies, Emery Dreifuss muscular dystrophy is associated with genetic mutations. The AD-EDMD inheritance was documented by Hauptmann and Thannhauser as early as 1941. Emery and Dreifuss described the X-linked form of the disease in 1966.


Emery Dreifuss muscular dystrophy is not sporadic. Instead, a familial clustering was observed in connection with the disease, which speaks for the genetic basis and the hereditary nature of the muscle disease. The two inheritable forms of the disease differ according to the location of the genes involved. Both forms are based on a mutation.

But it is not the same mutation. The first form of muscular dystrophy is caused by a mutation in the gene coding for the core protein emerin. The corresponding gene is located on gene locus Xq28. This form of the disease is also known as X-linked EDMD and is passed on as an X-linked inheritance. The complete loss of the emerin appears to be the cause of the patient’s muscle weakness. However, the connections are so far unclear.

The second form is based on mutations of the LMNA gene, which is located at gene locus 1q21 and is involved in the coding of the core structural proteins Lamin A / C. A mutation in this gene initiates the autosomal dominant inheritable form of the disease, also known as AD-EDMD. In this form of disease, due to the mutation, there is an incorrectly assembled motor endplate on the muscles. Which external factors, in addition to the genetic factors, play a role in the outbreak of the disease has not yet been conclusively clarified.

Symptoms, ailments & signs

Patients with Emery Dreifuss muscular dystrophy suffer from a complex of clinical symptoms, all of which involve the musculature and which progressively progress. Therefore, although the condition is congenital, symptoms do not need to be apparent immediately after birth. Often they are barely noticeable at first and are only recognized as they progress.

This progression is rather slow. In most cases, the individual symptoms appear in relatively young patients. However, symptom-free cases up to young adulthood can also occur. There are three main symptoms or abnormalities that speak for the disease. Most patients are affected by a shortening of the Achilles tendons and also of the elbow muscles.

Because of this, they are usually unable to fully extend their leg or arm. The second characteristic symptom is the progressive muscle weakness, which can manifest itself, among other things, in clumsiness or physically reduced performance.

The progressive weakness of the muscles is often accompanied by wear and tear on the muscles, which ultimately leads to muscle wasting. A later consequence of the Emery Dreifuss anomaly can be dilated cardiac vessels, which specifically affect the right atrium.


The suspected diagnosis of Emery Dreifuss muscular dystrophy is made on the basis of anamnesis, movement tests and laboratory diagnostics. Laboratory diagnostics show an increase in creatine kinase. In the movement tests, muscle weakness manifests itself with symptoms such as unsteady gait.

To confirm the diagnosis, electromyography can be performed, which provides evidence of the enlarged components of the heart. In addition, a muscle histology can be performed, which usually confirms muscle necrosis or phagocytosis of necrotic muscle cells. Early diagnosis of the disease is prognostically favorable.


In Emery Dreifuss muscular dystrophy, those affected are primarily affected by muscle wasting and general muscle weakness. It is therefore not possible for the patient to carry out physical activities or various types of sport. Everyday life is severely restricted by Emery Dreifuss muscular dystrophy.

In many cases, diagnosis is delayed because the condition does not show up right after birth. This can make treatment difficult and lead to further complications. In rare cases, symptoms do not appear until adulthood. Often times, patients suffer from malformations and abnormalities of the muscles and extremities. This is shown above all in a greatly reduced performance and in restricted motor skills.

Those affected often seem clumsy and cannot do certain things in everyday life without outside help. The progressive Emery Dreifuss muscular dystrophy ultimately leads to muscle wasting, which can severely limit the patient’s everyday life. A causal treatment is not possible in Emery Dreifuss muscular dystrophy.

Because of this, only symptoms can be treated. This means that life expectancy can be kept constant. As a rule, regular examinations are necessary for the patient so that no further complications arise.

When should you go to the doctor?

A doctor’s visit is necessary as soon as there are problems with the muscles. If there is reduced strength or physical performance for no apparent reason, this is considered unusual. A doctor’s visit is necessary so that a comprehensive examination can clarify the cause. In many cases there is a gradual decline in muscle strength. A doctor’s visit should take place as soon as the changes in everyday life are consciously perceived.

If cramps, pain or an inexplicable loss of muscles develop, these symptoms should be examined and treated by a doctor. Before taking muscle building preparations, you should consult a doctor in order to clarify risks and side effects in advance. If you can no longer meet your usual physical obligations at work or in your private life, you will need to see a doctor. If there is a sudden and persistent lack of performance during normal sporting activities, this should be discussed with a doctor.

If the symptoms lead to emotional impairment, a doctor should be consulted. Behavioral problems, social withdrawal, indifference, decreased well-being, or a depressed mood give cause for concern. The problems can be alleviated by working with a doctor or therapist.

Treatment & Therapy

There is no causal therapy for patients with Emery Dreifuss muscular dystrophy. Treatment is purely symptomatic and supportive. In conservative therapy, patients adapt their lifestyle to the disease. From now on, those affected must avoid sporting activities as much as possible, which could deform the muscle. Not all sporting activities have an unfavorable effect on those affected.

In physiotherapy, patients learn about beneficial sports activities. The aim of these treatment steps is to maintain mobility and combat muscle wasting through targeted muscle stress. The earlier the patient’s disease is recognized, the more likely it is that heart defects can be avoided. A close check by the cardiologist is indicated to observe any cardiac manifestations.

There may be causal treatments for Emery Dreifuss muscular dystrophy patients in the near future. Gene therapeutic approaches to muscular dystrophy are currently a subject of research. However, these approaches are not yet in the clinical phase. In addition to gene therapy, the use of adenoviral vectors to smuggle in emerine-like equivalents will presumably turn the disease into a curable disease in the near future.

Outlook & forecast

Emery Dreifuss muscular dystrophy is a disease from the field of genetic diseases. The mutation of a gene triggers the symptoms. For legal reasons, doctors and scientists are not allowed to intervene in human genetics in order to make changes. As a result, there is currently no cure for the disease.

The symptoms are treated symptomatically. Since the disease progresses in spite of all efforts, the prognosis of the disease is described as unfavorable. Doctors’ efforts are focused on developing muscles. In targeted therapies, exercises and training are developed that support the muscular system. Everyday life and in particular the choice of sporting activities are restricted for the patient. The way of life must be adapted to the physical requirements so that there are no excessive demands.

The later the disease is discovered and treated, the less it is possible to improve the impairment. Complications can arise that lead to a worsening of the prognosis. Nevertheless, the medical care of the patient will maintain the average life expectancy.

Due to the mental and emotional stresses associated with Emery Dreifuss muscular dystrophy, secondary diseases and psychological disorders can occur. Such a development worsens the overall prognosis of the patient to a considerable extent.


So far, there are no preventive measures available for Emery Dreifuss muscular dystrophy apart from the molecular genetic analysis to identify familial dispositions.

You can do that yourself

In addition to medical care, patients with Emery Dreifuss muscular dystrophy can plan the development of their muscles independently and on their own responsibility. Regular sporting activities and well-developed training help to counteract the breakdown of muscles, as far as the disease allows.

A healthy and balanced diet also helps. The patient’s muscles can be specifically supported by the choice of food and meals. With the intake of a lot of protein, the development of the muscles is promoted. The intake of many fats and / or pollutants should be avoided at the same time. The consumption of nicotine or alcohol is detrimental to health and worsens general well-being.

In order to maintain mobility for a long time, the movement sequences must be aligned with the available possibilities. In all life situations, certain exercises can be built in, which contribute to an improvement of the circumstances and at the same time have a preventive effect. The muscles are also well and sufficiently supported by a sufficient supply of heat.

The effects of cold or drafts should be avoided. In addition to the physical offers, mental strengthening is helpful. Relaxation methods help to reduce stress. The internal pressure is thereby reduced and calmness in dealing with the challenges of everyday life is trained.

Emery Tripod Muscular Dystrophy

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