Moyamoya disease is a disease that affects the blood vessels of the brain. As a result of the disease, the vessels in the brain spontaneously close. The closure occurs over a longer period of time through a fibrous transformation in the area of the base of the brain. The conversion often takes place in the internal carotid artery.
What is moyamoya disease?
Moyamoya disease is most common in Japan. According to current medical knowledge, the disease is caused by genetic mutations on the 17th chromosome. In addition to the genetic and thus congenital form of Moyamoya disease, there is also an acquired form of the disease. See fun-wiki for What is Splenic Infarction used for.
This can be seen, for example, in connection with Down syndrome or arteriosclerosis and is also known under the term Moyamoya syndrome. The name of moyamoya disease comes from the Japanese language. Moyamoya here means ‘cloud of smoke’ and thus refers to the tiny collateral vessels that form as a result of stenosis and whose shape is reminiscent of smoke in the angiogram.
The causes of Moyamoya disease are in the majority of cases in genetic mutations. The gene mutation occurs on chromosome 17 at a special gene locus. The exact prevalence of moyamoya disease is not yet known.
Moyamoya disease is established in affected people from birth and develops throughout life. The disease progresses slowly but steadily and leads to occlusion of vessels in the brain, which consequently appear as smoke or fog on the angiogram.
Symptoms, Ailments & Signs
Moyamoya disease is associated with occlusion of vessels in the brain. The blood vessels initially constrict over a relatively long period of time. The progressive narrowing of the vessels eventually leads to a complete occlusion of the arteries. In most cases, the middle cerebral artery and the internal carotid artery are affected by the pathological changes.
As a result of the blocked vessels, increasing anemia develops in the brain of the sick person. This means there is a risk of ischemic attacks and strokes. In order to compensate for the closed vessels, numerous tiny blood vessels develop. These vessels appear on imaging as extraneous or smoky formations.
Moyamoya disease is relatively rare in Europe. It is much more common in Asia and especially in Japan. Moyamoya disease manifests itself particularly frequently in children between the ages of two and ten and between the ages of 30 and 40.
As a result of moyamoya disease and the occlusion of cerebral blood vessels, patients are at increased risk of cerebral infarction and cerebral hemorrhage. As a result, doctors often discover moyamoya disease in connection with such complications.
Diagnosis & course of disease
In most cases, moyamoya disease is only diagnosed when the disease manifests itself through typical complications. These include primarily strokes and bleeding in the area of the brain. This is because numerous patients are only examined after such incidents, which ultimately point to a Moyamoya disease.
Moyamoya disease is rarely diagnosed before acute emergencies such as a stroke occur. Moyamoya disease is usually diagnosed in specialist centers equipped with the necessary brain imaging technology. First, an anamnesis takes place with the person affected by the moyamoya disease, who describes their symptoms and any complications that may have occurred.
The beginning of the symptoms of Moyamoya disease is always important. The clinical examination is mainly based on imaging techniques. The focus is on the patient’s brain. An MRI scan and angiography are usually used. Patients are usually given special contrast media before the imaging examination. As a result, the tiny vessels and a reduced supply of blood and oxygen in the brain can be detected.
Since Moyamoya disease mainly affects the brain, this disease can have a very negative impact on the life and everyday life of those affected. As a rule, the patient suffers a stroke at an early stage, which can lead to various irreversible consequential damages. It is not uncommon for patients to suffer from sensory disturbances and also from paralysis.
Various motor and physical abilities of the person affected are restricted as a result, so that the person affected may even be dependent on the help of other people in everyday life. If left untreated, moyamoya disease can also be fatal. It is not possible to treat the moyamoya disease causally.
However, the symptoms and complications can be limited with the help of medication. Furthermore, in most cases those affected are dependent on regular examinations in order to avoid consequential damage. In severe cases, a bypass can also be placed.
A healthy diet and a mindful lifestyle have a very positive effect on the disease and can prevent further complications. As a rule, however, the life expectancy of the patient is significantly reduced by the Moyamoya disease.
When should you go to the doctor?
Moyamoya disease is a serious disease that always requires immediate medical attention. Anyone who experiences periodic headaches, impaired consciousness, or other unusual symptoms should seek medical advice promptly. The doctor can diagnose any Moyamoya syndrome and then immediately initiate treatment. If this happens early, serious complications can often be avoided. If left untreated, the narrowing of the cerebral vessels can lead to strokes and other health consequences.
At the latest after a stroke or a cerebral hemorrhage, a doctor must make a diagnosis. Those affected must then be treated in a special clinic and closely monitored. Moyamoya disease is treated by neurologists and internists. Since it is a serious illness that ends fatally in many cases, those affected should also be looked after by a therapist. If there is a suspicion of another vascular occlusion, the responsible doctor must be informed immediately or the nearest hospital must be visited immediately.
Treatment & Therapy
The therapy of Moyamoya disease is exclusively symptomatic, since it has not been possible to treat the causes of the disease so far. Drug therapy for people affected by moyamoya disease is particularly important. The people usually take so-called anticoagulants.
In addition, encephalomyosynangiosis and encephaloduroarteriosynangiosis are suitable as therapeutic measures. It is also possible to treat moyamoya disease with surgery. Patients receive a neurosurgical bypass as part of inpatient interventions.
This form of therapy has shown relatively good results so far. During the operation, doctors connect the cerebral and temporal arteries together. It is also of great importance for a successful symptomatic therapy of moyamoya disease that the patients minimize as many personal risk factors in their own lifestyle as possible.
This includes, for example, reducing obesity and high blood pressure and giving up smoking. In principle, regular and permanent medical monitoring of the patient is necessary in order to monitor the progression of the disease and, if necessary, to intervene as quickly as possible with suitable therapy measures.
Outlook & Forecast
Moyamoya disease can be treated well. However, little is known about the long-term course. There are known cases in which no complaints occur. In other cases, strokes and circulatory disorders of the brain occur. The course depends on the age at which the symptoms appear and how severe they are.
If left untreated, the condition takes an unfavorable course, as severe neurological deficits develop. First and foremost, there is a high risk of stroke, which can result in severe disability or death. A direct or indirect bypass method, which promotes blood circulation in the brain, significantly reduces the risk of a stroke. Around 60 percent of all patients are symptom-free after the procedure.
Physiotherapy, speech therapy and occupational therapy can also improve the prognosis. The neurologist responsible can make a prognosis based on the symptoms. However, this must be adjusted regularly, especially in the case of repeated circulatory disorders and other complications. Any concomitant diseases, such as those that occur in particular with severe cerebrovascular malformations, worsen the prognosis. Patients at risk achieve an optimal prognosis through early diagnosis and treatment.
The Moyamoya disease is genetically caused in the affected people and is therefore determined from birth. For this reason, the disease cannot be prevented causally. However, medicine is researching ways to effectively prevent genetic disorders such as moyamoya disease.
Since Moyamoya disease is usually a hereditary disease, it cannot be completely cured. Therefore, the affected person should consult a doctor as soon as the first symptoms and signs of the disease appear in order to prevent the occurrence of further complications and complaints. The sooner a doctor is consulted, the better the further course of the disease.
If there is a desire to have children, a genetic test and counseling should be carried out in order to prevent the disease from recurring in the children. Most patients are dependent on taking various medications for the disease. The patient should always ensure that the medication is taken regularly and that the dosage is correct.
If you have any questions or are unclear, you should always consult a doctor first. In general, a healthy lifestyle should also be observed, whereby obesity should be avoided. The person concerned should also refrain from alcohol and smoking. The moyamoya disease may reduce the life expectancy of the patient.
You can do that yourself
So far, moyamoya disease can only be treated symptomatically. Drug therapy can be supported by those affected by a number of measures. Individual symptoms such as obesity and high blood pressure can be alleviated by changing your lifestyle.
Basically, patients should maintain a healthy lifestyle and pay attention to a balanced diet. If you exercise regularly at the same time, the typical symptoms can already be greatly reduced. Stimulants such as cigarettes, alcohol or coffee should be avoided.
Since the disease is present from birth, a diagnosis can be made at an early stage. Parents who notice the characteristic symptoms in their child should consult a doctor. On the one hand, early diagnosis and treatment improves the treatment options. On the other hand, possible risk factors can be excluded from the outset. Nevertheless, Moyamoya patients require permanent medical control. Since the disease is a great burden for everyone involved, accompanying therapy is always recommended for the parents and the affected child.
After an operation, the patient primarily needs bed warmth and rest. In addition, further visits to the doctor are indicated, during which the patient’s state of health can be checked and any complications can be identified at an early stage.