Muscular dystrophy type Fukuyama is a rare, congenital muscle wasting disease that occurs mainly in Japan. The disease is caused by the mutated so-called FCMD gene, which is responsible for the coding of the protein fukutin. The disease is associated with severe mental and motor developmental disorders and shows progressive progression, so that the mean life expectancy is only about ten years.

What is a muscular dystrophy type Fukuyama?

Muscular dystrophy type Fukuyama (FCMD) is one of the genetic congenital muscle wasting diseases whose symptoms are already present at birth. The rare FCMD is inherited as an autosomal recessive trait. Their main distribution area is Japan.

The disease is associated with severe mental and motor developmental disorders and is causally related to a mis-coded transmembrane protein called fukutin. Fukutin is synthesized in large quantities in the central nervous system, pancreas, heart and skeletal muscle.

Because of the central and systemic importance of the protein fucutin in cell metabolism, especially in the Golgi membrane of the cells, severe systemic symptoms occur. As a rule, the disease is accompanied during the first five years by a greatly increased CK value (creatinine kinase), which can reach ten to fifty times the normal concentration.


Direct causative agent of FCMD is a functional restriction or a complete loss of function of the structural protein fukutin. It is a so-called singlepass transmembrane protein, which performs central tasks in the membrane of Golgi organelles. The complex tasks of the Golgi apparatus of a cell include the formation and storage of secretory vesicles and intracellular lysosomes.

The functional limitation of fucutin is due to a genetic defect that leads to a false coding of the fucutin. It is one of several known mutations of the fukutin gene on the gene locus 9q31-q33. The process, which leads to the incorrect coding of the fucutin due to the detectable gene mutation, is not (yet) fully understood.

Symptoms, complaints & signs

The first externally visible symptoms of congenital muscular dystrophy type Fukuyama are usually already in infancy immediately after birth. Typically, babies have poor muscle tone, which manifests itself in generalized muscle weakness. The suckling and crying reflexes of the affected newborns are weak and a general flaccidity of the babies can be detected.

Common and typical are occurring contractures, restricted movement of hips, knees and the inter-finger joints (interphalangeal joints). Further development leads to typical myopathic facial features, which can be recognized by a weak and "flabby" facial expression.

In many cases, the retina is affected in the form of varying degrees of retinal dysplasia and corresponding visual impairment. Also symptomatic at a later stage are so-called pseudo-hypertrophies on the calves and forearms, which arise as a result of an increase in the interstitial connective tissue.

However, symptoms of extremely slow mental development, which is based on a maldevelopment of important structures of the central nervous system (lissencephaly), are particularly serious.

Diagnosis & disease course

Immediate post-natal symptoms suspected of FCMD should be elucidated by electromyography or muscle biopsy and neurological testing. Above all, other diseases such as Duchenne muscular dystrophy and Becker muscular dystrophy as well as muscular dystrophies, which are associated with lissencephaly like FCMD, must be excluded by differential diagnosis.

Ultimate certainty can create a molecular genetic analysis of the fukutin gene. If there are already known cases of FCMD within the family of one of the parents, the molecular genetic examination - without considering possible ethical considerations - can also be performed prenatally. The course of the disease is different, but always serious.

The early recognizable mental and motor developmental disorders are so serious that only a few affected children learn to speak and to walk. More than half of the patients experience epileptic seizures. In the further course - at the latest from the age of ten - are swallowing and eating disorders as well as heart problems, which are ultimately associated with very poor prognosis.


As a rule, muscular dystrophy type Fukuyama causes various restrictions and complaints right after birth. Most sufferers primarily suffer from severe muscle weakness. Ordinary activities are no longer possible for the person concerned, which leads to significant delays and developmental restrictions, especially in children. Furthermore, there are also mental and motor complaints.

The affected people seem clumsy and often suffer from movement restrictions. Likewise, it comes to unusual facial features, especially children can suffer from bullying or teasing about this complaint. Not infrequently, the muscular dystrophy type Fukuyama also leads to poor eyesight or veiling vision.

The quality of life of the person affected is significantly reduced by this disease. Due to the disturbed mental development, those affected are often dependent on the help of other people in their everyday lives. A causal treatment of muscular dystrophy type Fukuyama is not possible, so that usually only the symptoms and symptoms are treated.

Complications do not occur. Furthermore, surgical interventions are necessary in acute emergencies, so that there is no cardiac arrest due to respiratory problems.

When should you go to the doctor?

The muscular dystrophy type Fukuyama is usually detected immediately after birth. The treating physician can diagnose the condition based on muscle weakness and other typical symptoms and will promptly make a detailed diagnosis. Parents of affected children must consult the physician closely so that medication and physiotherapy can be regularly adjusted to the rapidly changing symptom picture. Depending on the symptom picture, additional specialists must be consulted, for example for the typically occurring low vision.

If epileptic seizures, swallowing and eating disorders or heart problems occur during the course of the disease, the next hospital must be visited immediately. In most cases, directly after birth, various symptoms occur that make a hospital stay in hospital necessary. In case of mild muscular dystrophy type Fukuyama, outpatient treatment may be possible. In addition to the family doctor, internists, neurologists, orthopedists and cardiologists can be consulted. In the further course, the responsible physician will also involve a physiotherapist in the therapy.

Treatment & Therapy

There is no therapy to cure FCMD because there is no way to substitute fucutin, which has been incorrectly coded for genetic reasons, with fucutin, which is encoded correctly. Applied treatments and therapies serve to delay the course of the disease as far as possible and have a positive influence on the quality of life of the children.

Physiotherapeutic exercises help to compensate for motor deficits and to slow down the progression towards joint contracture, ie joint stiffness and the process of muscle wasting. In the case of acute orthopedic or other problems, individual interventions are made, if necessary also through surgical intervention.

In many cases, additional anticonvulsant treatments are necessary to prevent epileptic or other spasmodic seizures. Often, gastroesophageal reflux occurs, requiring surgery beyond medication. Particular attention is paid to the monitoring of respiratory and cardiac function.

Especially in the advanced stage of the disease problems increase, which are one of the main causes of death and thus require high attention. Ultimately, the treatments and therapies help to improve the quality of life. Immediately extending life are acute interventions to overcome acute respiratory distress or to overcome acute heart problems with impending cardiac arrest.

Outlook & Forecast

The prospects for muscular dystrophy type Fukuyama are poor. Europeans rarely have to fear illness. The main distribution area is in Japan. There are one to two out of 50, 000 children born with the muscular dystrophy type Fukuyama. The causes of the complaints lie in a genetic defect. This can not be treated according to the current scientific status.

Life expectancy is greatly reduced. Most sufferers are not older than ten years. Depending on the severity of the symptoms, sometimes much earlier deaths are possible. In addition, the quality of life also suffers. Although many approaches are now available to contain complaints. These include, above all, physiotherapy, medications and breathing aids. The progressing development of muscular dystrophy type Fukuyama can not be slowed down overall.

Diseased children need close attention. Difficulty walking and standing are common. The number and intensity of the restrictions increase significantly after the fifth year of age. For parents and relatives the diagnosis "muscular dystrophy type Fukuyama" often means a psychological burden. As a result, the treatment usually also takes its problem situation into account.


Direct preventive measures that could prevent the onset of congenital muscular dystrophy type Fukuyama, do not exist because the disease is based solely on a gene defect and the incorrectly encoded protein fukutin - the actual trigger of FCMD - can not be replaced by correctly coded fucutin.

For people of both sexes, in whose families cases of FCMD have already been documented, a molecular genetic examination of the fukutin gene is recommended in order to obtain certainty as to whether a corresponding genetic defect is present.


With muscular dystrophy type Fukuyama, follow-up is only possible to a very limited extent. The aftercare takes place for the children mostly on an outpatient basis, but in some cases also inpatient aftercare is necessary. Regular check-ups are important after diagnosis to monitor the development of the disease. An intensive care of the child is indispensable here.

Since the muscular dystrophy type Fukuyama can not be treated, in the aftercare only the symptoms and symptoms can be alleviated. This serves to increase the quality of life of the child despite the disease. Physiotherapy is a way to compensate for muscle weakness and the resulting motor deficits and to slow down joint stiffness.

In some cases, additional orthopedic surgery may be necessary. Furthermore, breathing aids and various medications are advised to curb the partially severe discomfort. Here it is fundamental that the regular use of these drugs is checked.

Also important in the aftercare are anticonvulsive treatments that help prevent epileptic seizures. Continuous monitoring of the baby's respiratory and cardiac function is also necessary. The muscular dystrophy type Fukuyama is an incurable disease and life expectancy is usually not more than ten years.

You can do that yourself

This very serious condition mainly occurs in Japan. Those affected usually die during childhood. These children depend on the help and protection of their parents, as they need constant care. Parents must ensure that their affected child reliably takes his medication and accompanies him to the physiotherapy sessions. Deterioration in the course of the disease must be recognized and presented to physicians for complementary treatment.

If the parents are overwhelmed, they should undergo psychotherapeutic support. In addition, the connection to a self-help group is recommended. The German Society for Muscular Dystrophy eV runs self-help groups throughout Germany that provide on-the-spot advice and support ( The connection to a self-help group can also bring relief to the child. It may also learn about muscle wasting affected children and can exchange views. This is all the more important if the sick child is being bullied in his immediate environment by other children.

If there is another desire to have children with the parents or relatives of a child suffering from muscular dystrophy of type Fukuyama, they should seek genetic counseling. A molecular genetic study can show if and in whom the fucutin gene causing the disease is damaged.

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