Materiały źródłowe

• #1 Epidemiology, diagnosis and treatment of moyamoya disease (Review)

  https://www.spandidos-publications.com/10.3892/etm.2019.7198?text=fulltext

  Moyamoya disease (MMD) is a type of chronic cerebrovascular occlusion disease, which frequently occurs in East Asian populations, including pediatric and adult patients, and may lead to ischemic or hemorrhagic stroke, headache, epilepsy or transient ischemic attack. […] The incidence of MMD is high in East Asian populations but low in European and North American populations. […] In recent years, large amounts of research on the diagnosis and treatment of MMD have been performed in China, Japan and South Korea. […] The incidence of MMD exhibits significant regional differences, with a high incidence in East Asia and a low incidence in other regions. According to previous studies, the prevalence of MMD is 10.5/100,000 individuals and the incidence rate is 0.94/100,000 individuals in Japan; in South Korea, the prevalence rate is 16.1/100,000 and the incidence rate is 2.3/100,000 individuals.

• #1 Frontiers | Potential predictors for progression of moyamoya disease: A systematic review and meta-analysis

  https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2023.1128338/full

  Moyamoya disease (MMD) is more common in people living in East Asian countries such as Japan and Korea than in the Western Hemisphere. In Japan, the incidence rate is 0.94–1.13 per 100,000 people, and the prevalence rate is 5.22–10.50 per 100,000 people. […] The progression rate for MMD patients was around 18.8%. […] The incidence of people with a family history of MMD are 30–40 times higher than the incidence of the general population, and patients with MMD have shown the genetic characteristics of autosomal dominant. […] The age group with the highest incidence of moyamoya disease is 0–10 years old, followed by 30–50 years old.

• #1 Moyamoya Disease: Epidemiology, Clinical Features, and Diagnosis

  https://www.j-stroke.org/journal/view.php?doi=10.5853/jos.2015.01627

  During the 12-year period, 422 patients were identified, representing an annual incidence of 0.15/100,000 person-years. […] Epidemiology studies in mainland China are rare. […] An epidemiological study in the area of Nanjing, the capital city of Jiangsu province, with a total population of approximately 6.2 million, showed that the prevalence was 3.92/100,000 during 2000-2007, which was generally lower than that in Korea or Japan. […] However, these studies do not represent data from all of China. […] As shown in Table 1, there is an increasing incidence and prevalence of MMD over time in East Asian countries. […] Studies from outside of Asia are rare. […] In Washington state and California, the incidence of MMD was reported to be 0.086/100,000 based on 298 patients. […] The incidence was the highest in Asians, followed by Blacks, Whites, and Hispanics. […] Overall, ischemic stroke was the most common reason for admission in both children and adults. […] Thus, MMD in the USA does not seem to differ from East Asian MMD.

• #1 Moyamoya Disease: Epidemiology, Clinical Features, and Diagnosis

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4747069/

  This finding may indicate an actual increase in the incidence of MMD in these countries. […] However, a more plausible explanation would be an increase in newly diagnosed patients owing to the recent advent of noninvasive diagnostic tools such as MRA. […] Studies from outside of Asia are rare. […] In Washington state and California, the incidence of MMD was reported to be 0.086/100,000 based on 298 patients. […] Overall, ischemic stroke was the most common reason for admission in both children and adults. […] Thus, MMD in the USA does not seem to differ from East Asian MMD.

• #1 Epidemiology, diagnosis and treatment of moyamoya disease (Review)

  https://www.spandidos-publications.com/10.3892/etm.2019.7198?text=fulltext

  The incidence of MMD was as low as 0.09/100,000 individuals in other regions, including North America, but it has exhibited an upward trend in the US. […] Worldwide, the age of onset of MMD is significantly bimodal in distribution, with a bimodal peak consisting of a major peak in the first decade of life and a moderate peak in the late 20 to 30s. […] Of note, geographic differences in sex distribution have been observed. In foreign populations, the incidence of MMD in females was reported to be higher than that in males with the male-to-female ratio ranging from 1:1.8 to 1:2.2; however, the sex ratio is 1:1 in China.

• #1 Epidemiology of Moyamoya Disease in Korea: Based on National Health Insurance Service Data

  https://www.jkns.or.kr/journal/view.php?viewtype=pubreader&number=637

  The prevalence for men was 4.9 and 8.3 for women in 2005. In 2013, the prevalence had increased for men and women to 13.8 and 25.3, respectively. The incidence for men and women was 2.2 and 3.2, respectively, in 2005. It had increased to 3.5 and 5.7, respectively. […] The mean age of patients was 33.5 in 2005 and increased to 42.5 in 2013. The peak prevalent age group had shifted slightly to the older age groups, with chronologically consistent female predominance. The prevalence was highest in Jeollabuk province and lowest in Ulsan city. […] In this study, we calculated the prevalence and incidence of MMD using a nationwide database. In 2013, the standardized prevalence and incidence of MMD was 18.1 and 4.3 per 100000, respectively. […] The prevalence and incidence of MMD in Korea had gradually increased, and they were 18.1 and 4.3 per 100000 annually with age and sex standardization, respectively, in 2013. The peak prevalent age group had slightly shifted to the older age groups, with higher female predominance. The local difference of prevalence and incidence was also found.

• #1 Moyamoya Disease: Epidemiology, Clinical Features, and Diagnosis

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4747069/

  Moyamoya disease (MMD) is a chronic, occlusive cerebrovascular disease characterized by progressive stenosis at the terminal portion of the internal carotid artery and an abnormal vascular network at the base of the brain. […] Although its etiology remains unknown, recent genetic studies identified RNF213 in the 17q25-ter region as an important susceptibility gene of MMD among East Asian populations. […] Possibly because of genetic differences, MMD is relatively common in people living in East Asian countries such as Korea and Japan, compared to those in the Western Hemisphere. […] The prevalence of MMD appears to be slightly lower among Chinese, compared to Koreans or Japanese. […] There are two peaks of incidence with different clinical presentations, at around 10 years and 30-40 years.

• #1 Moyamoya Disease Worldwide-Global Burden East and West | IntechOpen

  https://www.intechopen.com/chapters/75556

  MMD is more common in Asian ethnicities as compared to the Western population. […] The increased prevalence in Japan, Korea and other East Asian countries raised genetic predisposition to this condition. […] The incidence and prevalence were also found to be high in other Asian countries like Korea, China and Taiwan. […] The incidence in all these countries is found to be increasing over the years, most likely due to advancements in diagnostic modalities and a better understanding of the genetic factors linked to the disease. […] In Europe, the incidence of MMD was 1/10th of that in Japan. […] A similar bimodal age distribution is seen across the world, with the first peak occurring at 5-14 years in the pediatric population and around 4th decade in adulthood. […] In Japan, family history is present in 10-15% of cases, and the risk of the disease in a family member is about 30-40 times higher than the general population. […] These epidemiological parameters remained constant from East to West as evident in the literature review from across the world by Kim et al.

• #1 Moyamoya disease: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/moyamoya-disease/

  Moyamoya disease was first identified in Japan, where it is most prevalent, affecting about 5 in 100,000 individuals. The condition is also relatively common in other Asian populations. It is ten times less common in Europe. In the United States, Asian Americans are four times more commonly affected than whites. For unknown reasons, moyamoya disease occurs twice as often in females as in males. […] Up to 15 percent of Japanese people with moyamoya disease have one or more family members with the condition, indicating that the condition can be passed through generations in families; however, the inheritance pattern is unknown. Research suggests that the condition follows an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. However, some people who have a copy of the altered gene never develop the condition, which is a situation known as reduced penetrance.

• #1 Moyamoya Disease: Practice Essentials, Background, Etiology

  https://emedicine.medscape.com/article/1180952-overview

  A study indicated that the prevalence of moyamoya disease in California and Washington was 0.086 case per 100,000 people. In this study, the breakdown based on ethnicity as ratio to whites was 4.6 for Asian Americans, 2.2 for African Americans, and 0.5 for Hispanics. […] The incidence of moyamoya disease is highest in Japan. The prevalence and incidence of the disorder there has been reported to be 3.16 cases and 0.35 case per 100,000 people, respectively. […] Moyamoya disease occurs primarily in Asians but can also occur (with varying degrees of severity) in whites, blacks, Haitians, and Hispanics. […] The female-to-male ratio of moyamoya disease is 1.8:1. Ages for patients with moyamoya disease range from 6 months to 67 years, with the highest peak in the first decade and smaller peaks in the third and fourth decades.

• #1 Moyamoya disease

  http://www.scielo.org.co/scielo.php?script=sci_arttext&pid=S0120-24482020000200045

  Moyamoya disease is a chronic neurovascular disease characterized by progressive bilateral stenosis of the internal carotid arteries with abnormal formation of new abnormal blood vessels whose blockage of blood flow causes a variety of clinical manifestations and complications associated with acute cerebrovascular events (ischemic or hemorrhagic), which may even be fatal. […] This is a rare disease with a very low prevalence in Hispanics, with seizures and stroke symptoms being among the least frequent manifestations in adults. […] In Japan, a prevalence of 3.16 per 100,000 inhabitants has been found, while in the United States (US) the disease prevalence has been found to be 0.086 per 100,000 inhabitants. It affects women more than men in a 2:1 ratio, and two incidence peaks have been reported: children between 5-9 years old and adults between 40-50 years old (more common).

• #1 Moyamoya disease in Mexico: our experience | Neurología (English Edition)

  https://www.elsevier.es/en-revista-neurologia-english-edition–495-avance-resumen-moyamoya-disease-in-mexico-our-S2173580820301565

  In our study, MD accounted for 0.03% of cases of cerebrovascular disease in our hospitals registry (n=4481). MD should be considered within the group of rare causes of stroke, and in patients with stroke aged under 50 years. […] However, MD continues to be a very rare entity in Latin American countries, and few studies analyse its epidemiology (in paediatric or in adult patients) in the region. […] While the characteristics of Mexican patients with MD do differ from those of populations from Germany and the United States, certain similarities were observed with the Japanese population, namely the predominance of female patients and the percentage of unilateral cases. […] Ours is the first study to describe this disease in a subpopulation of Latin American adults, a group in which prevalence is low due to age and geographic region. Multicentre studies including hospitals from across Latin America would increase our understanding of the demographic and clinical characteristics of patients with MD, enabling us to more precisely establish the most successful treatment.

• #1 Imaging and epidemiology of Moyamoya Vasculopathy: Case report and brief review – Pediatric Stroke Journal

  https://pediatricstrokejournal.com/imaging-and-epidemiology-of-moyamoya-vasculopathy-case-report-and-brief-review/

  Moyamoya disease is most common in patients of East Asian descent. […] Moyamoya syndrome occurs at elevated rates in patients with trisomy 21 (3800/100,000 prevalence) and neurofibromatosis 1 (NF1, 600/100,000 prevalence). […] Sickle cell disease (SCD) leads to increased rates of moyamoya vasculopathy and ischemic events, though heterogeneous definitions of vasculopathy employed in past studies have limited precise estimates of the prevalence of moyamoya vasculopathy secondary to SCD. […] Two recent studies in African populations have found high prevalence rates of over 50% of children with SCD. […] The increased prevalence of moyamoya disease in East Asian populations is believed to reflect the prevalence of the RNF213 gene mutant allele, an important susceptibility gene of familial moyamoya disease that demonstrates an autosomal dominant pattern of inheritance with low penetrance.

• #1 Moyamoya Disease: Epidemiology, Clinical Features, and Diagnosis

  http://j-stroke.org/journal/view.php?viewtype=pubreader&number=113

  Moyamoya disease (MMD) is relatively common in people living in East Asian countries such as Korea and Japan, compared to those in the Western Hemisphere. […] According to a survey performed in Japan in 1995, the prevalence of MMD was approximately 3.16/100,000, with an estimated incidence of 0.35/100,000. […] A subsequent survey in 2004 showed that the number of patients considerably increased, with an estimated incidence of 0.54/100,000, and prevalence of 6.03/100,000 in 2003. […] An epidemiology study from Korea based on National Health Insurance (NHI) data reported that the prevalence of MMD increased from 6.3/100,000 in 2004 to 9.1/100,000 in 2008. […] According to a study using the data set obtained from 2007 to 2011, the number of incident MMD cases increased from 848 to 1,192, with the annual incidence being 1.7 to 2.3/100,000.

• #1 Moyamoya Disease: Epidemiology, Clinical Features, and Diagnosis

  https://www.kci.go.kr/kciportal/landing/article.kci?arti_id=ART002077884

  These different age peaks and different clinical presentations in each age group are also observed in MMD patients in the USA. […] Catheter angiography is the diagnostic method of choice. […] Magnetic resonance (MR) angiography and computed tomographic angiography are noninvasive diagnostic methods. […] High-resolution vessel wall MR imaging also helps diagnose MMD by revealing concentric vessel wall narrowing with basal collaterals.

• #1 Moyamoya Disease | Doctor

  https://patient.info/doctor/moyamoya-disease.htm

  Moyamoya disease (MMD) is a rare disorder of the brain arteries most commonly observed in East Asian populations with an annual incidence of 0.944.3/100 000 inhabitants. […] Initially thought to be a disease occurring primarily in Asian countries, the number of patients diagnosed in Europe is increasing due to increased awareness of the condition. […] Recent development of a non-invasive MRI has increased the identification of asymptomatic patients with moyamoya disease who have experienced no cerebrovascular events.

• #1

  https://journals.lww.com/md-journal/fulltext/2022/12020/case_report__moyamoya_disease,_the_culprit_in_an.109.aspx

  The diagnosis of Moyamoya disease is made by identifying the unique appearance of bilateral stenosis in the distal internal carotid arteries or proximal portion of the anterior and/or middle cerebral arteries with the characteristic prominent collateral vessels on angiographic imaging. […] Although conventional digital subtraction angiography is the gold standard for the diagnosis of this disease, noninvasive imaging such as CT angiogram or MR angiogram have a high diagnostic value in Moyamoya disease. […] However, HR-VWI is a newer advanced multi-contrast noninvasive technique that has been developed in recent years to allow detailed characterization of the vessel wall greatly improving diagnostic accuracy of several cerebral vasculopathies compared to traditional imaging. […] One study showed that using HR-VWI along with digital subtraction angiography, CTA or MR angiography significantly improved the accuracy of diagnosing Moyamoya disease from 31.6% to 86.8%; and the most common findings were no post-contrast vessel wall enhancement and absence of eccentric wall thickening.

• #1 Moyamoya Disease

  https://practicalneurology.com/articles/2020-jan/moyamoya-disease

  Although most pediatric moyamoya cases are idiopathic, there are population-based patterns. Historically, Asian ancestry is an increased risk factor for moyamoya, with up to 56% of Asian-Americans with moyamoya harboring a specific mutation of RNF213. […] In North America, only a small minority of pediatric moyamoya cases (5%) appear to have clear associations with specific mutations, unless the children have Asian heritage (for whom RNF213 mutations exist in 30%-50%). […] When moyamoya is diagnosed in a child, families are frequently concerned about the need to screen other siblings and relatives. Initial screening commonly includes an MRI and MRA, looking for the defining radiographic characteristics of moyamoya. […] Indications for radiographic screening are still to be defined, but because the rate of familial involvement is low (3.4% in a large North American series), initial screening of unaffected family members is generally reserved for first-degree relatives of those who have other first- or second-degree relatives with 1) established moyamoya diagnosis, 2) clinical histories strongly suggestive of moyamoya (eg, TIA, stroke, severe headaches or seizures without identified cause), or 3) identical twins.

• #1 Moyamoya Disease Causes, Symptoms, Treatment, Surgery

  https://www.medicinenet.com/moyamoya_disease/article.htm

  Moyamoya disease was first noted in Japan in 1957 and it is seen mainly in Japan and other countries in Asia. The disease is diagnosed less frequently in Europe and North America. […] Moyamoya disease can occur in children and adults. There are two times the disease incidence peaks: most commonly, at about 10 years of age in children and between ages 30 to 50 in adults. […] In general, the earlier patients are diagnosed and treated, the better the outcome. Patients who are diagnosed early and treated promptly with surgical intervention can have a normal life expectancy. […] Moyamoya disease is progressive, and patients who are not treated often suffer cognitive and neurologic decline due to repeated ischemic stroke or hemorrhage. […] Without surgery, most patients with Moyamoya disease will suffer from multiple strokes and a mental decline because of the progressive narrowing of arteries. If left untreated, Moyamoya disease can be fatal as the result of intracerebral hemorrhage (bleeding within the brain).

• #1 Orphanet: Moyamoya disease

  https://www.orpha.net/en/disease/detail/2573

  The incidence of MMD is highest in Asian populations but MMD occurs in many other ethnic groups. The incidence ranges from 1/280,000 to 1/89,000 in Japan and China to1/1,100,000 in the US. The prevalence in Japan is estimated to be 1/30,000-1/9,500. […] Early detection and appropriate treatment improve the long-term outcome. The prognosis depends on disease severity. Mortality rates are estimated at about 5% for adults and 2% for children. The main cause of death is hemorrhage.

• #1

  https://journals.lww.com/md-journal/fulltext/2022/12020/case_report__moyamoya_disease,_the_culprit_in_an.109.aspx

  Treatment of MMD is mainly surgical, including mainly 2 types of revascularization surgeries, termed direct and indirect revascularization. […] A recent retrospective cohort study in an adult population with ischemic MMD, compared the efficacy of surgical intervention, anti-platelet therapy, and conservative management (no medical intervention or the use of other treatments). Surgical intervention was superior as it had the longest interval period between further strokes and it reduced the rate of further cerebral ischemic events (1.9%) compared to the antiplatelet therapy group (5.7%) and the conservative management group (15.1%). […] A large Korean national retrospective cohort study observed patients with MMD from 2002 to 2016 and it showed strong evidence that the use of antiplatelet therapy decreased mortality by two thirds in those patients compared to non-antiplatelet use.

• #1 Moyamoya Disease

  https://practicalneurology.com/articles/2020-jan/moyamoya-disease

  It is increasingly clear that treatment at a high-volume center with a dedicated pediatric cerebrovascular team is among the most important predictors of surgical outcome. A recent national database analysis revealed that high-volume centers (averaging 30 procedures annually) had shorter lengths of stay (32%), lower costs (57%), 8-fold more likely discharge to home (versus rehabilitation), and a 15-fold lower rate of death.

• #2 Moyamoya Disease: Epidemiology, Clinical Features, and Diagnosis

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4747069/

  Moyamoya disease (MMD) is a chronic, occlusive cerebrovascular disease characterized by progressive stenosis at the terminal portion of the internal carotid artery and an abnormal vascular network at the base of the brain. […] Although its etiology remains unknown, recent genetic studies identified RNF213 in the 17q25-ter region as an important susceptibility gene of MMD among East Asian populations. […] Possibly because of genetic differences, MMD is relatively common in people living in East Asian countries such as Korea and Japan, compared to those in the Western Hemisphere. […] The prevalence of MMD appears to be slightly lower among Chinese, compared to Koreans or Japanese. […] There are two peaks of incidence with different clinical presentations, at around 10 years and 30-40 years.

• #2 Moyamoya Disease Worldwide-Global Burden East and West | IntechOpen

  https://www.intechopen.com/chapters/75556

  MMD is more common in Asian ethnicities as compared to the Western population. […] The increased prevalence in Japan, Korea and other East Asian countries raised genetic predisposition to this condition. […] The incidence and prevalence were also found to be high in other Asian countries like Korea, China and Taiwan. […] The incidence in all these countries is found to be increasing over the years, most likely due to advancements in diagnostic modalities and a better understanding of the genetic factors linked to the disease. […] In Europe, the incidence of MMD was 1/10th of that in Japan. […] A similar bimodal age distribution is seen across the world, with the first peak occurring at 5-14 years in the pediatric population and around 4th decade in adulthood. […] In Japan, family history is present in 10-15% of cases, and the risk of the disease in a family member is about 30-40 times higher than the general population. […] These epidemiological parameters remained constant from East to West as evident in the literature review from across the world by Kim et al.

• #2 Epidemiology, diagnosis and treatment of moyamoya disease (Review)

  https://www.spandidos-publications.com/10.3892/etm.2019.7198?text=fulltext

  Moyamoya disease (MMD) is a type of chronic cerebrovascular occlusion disease, which frequently occurs in East Asian populations, including pediatric and adult patients, and may lead to ischemic or hemorrhagic stroke, headache, epilepsy or transient ischemic attack. […] The incidence of MMD is high in East Asian populations but low in European and North American populations. […] In recent years, large amounts of research on the diagnosis and treatment of MMD have been performed in China, Japan and South Korea. […] The incidence of MMD exhibits significant regional differences, with a high incidence in East Asia and a low incidence in other regions. According to previous studies, the prevalence of MMD is 10.5/100,000 individuals and the incidence rate is 0.94/100,000 individuals in Japan; in South Korea, the prevalence rate is 16.1/100,000 and the incidence rate is 2.3/100,000 individuals.

• #2 Moyamoya Disease: Epidemiology, Clinical Features, and Diagnosis

  https://www.j-stroke.org/journal/view.php?doi=10.5853/jos.2015.01627

  An epidemiology study from Korea based on National Health Insurance (NHI) data reported that the prevalence of MMD increased from 6.3/100,000 in 2004 to 9.1/100,000 in 2008. […] According to a study using the data set obtained from 2007 to 2011, the number of incident MMD cases increased from 848 to 1,192, with the annual incidence being 1.7 to 2.3/100,000. […] In both studies, the female-to-male ratio was 1.9, and there were two peaks of incidence; the peak in the pediatric group occurred at age 5 to 14 years, accounting for 16.2% of all incident cases, and the peak in the adult group occurred at age 45 to 54 years, accounting for 22.8%. […] The overall prevalence of MMD in 2011 was as high as 16.1/100,000. […] Recently, the inpatient databases of the Taiwan NHI program identified MMD patients during 2000 to 2011.

• #2 Incidence and prevalence of moyamoya disease in urban China: a nationwide retrospective cohort study | Stroke and Vascular Neurology

  https://svn.bmj.com/content/6/4/615

  Moyamoya disease (MMD) is an increasingly recognised cause of stroke, mainly described in East Asia. […] We aimed to estimate the incidence and prevalence of MMD in China. […] A total of 1987 MMD patients (mean age 44.4514.30 years, female-to-male ratio 1.12) were identified, representing a national crude incidence of 0.59 (95% CI: 0.49 to 0.68) and a prevalence of 1.01 (95% CI: 0.81 to 1.21) per 100 000 person-years in 2016. […] Our results confirm that MMD is relatively common in East Asians, but the rates in China were lower than those in other East Asian countries such as Japan and Korea. […] The crude national incidence of MMD in 2016 was 0.59 (95% CI 0.49 to 0.68). […] The crude national prevalence of MMD in 2016 was 1.01 (95% CI: 0.81 to 1.21) per 100 000 person-years, reflecting a relatively rising trend from 0.62 (95% CI 0.48 to 0.77) per 100 000 person-years in 2013.

• #2 Epidemiology, diagnosis and treatment of moyamoya disease (Review)

  https://www.spandidos-publications.com/10.3892/etm.2019.7198?text=fulltext

  The incidence of MMD was as low as 0.09/100,000 individuals in other regions, including North America, but it has exhibited an upward trend in the US. […] Worldwide, the age of onset of MMD is significantly bimodal in distribution, with a bimodal peak consisting of a major peak in the first decade of life and a moderate peak in the late 20 to 30s. […] Of note, geographic differences in sex distribution have been observed. In foreign populations, the incidence of MMD in females was reported to be higher than that in males with the male-to-female ratio ranging from 1:1.8 to 1:2.2; however, the sex ratio is 1:1 in China.

• #2 Moyamoya: New protocol for managing a complex disease – Mayo Clinic

  https://www.mayoclinic.org/medical-professionals/neurology-neurosurgery/news/moyamoya-new-protocol-for-managing-a-complex-disease/mac-20513216

  Moyamoya disease can occur at any age, but symptoms are most common in children ages 5 to 10 and adults ages 30 to 50. […] Anecdotal evidence suggests that moyamoya disease, originally described in East Asian populations, might be increasing in prevalence among Western populations. „It’s difficult to know if there is a true increase in the disease incidence or if we have a lower threshold for suspecting moyamoya disease and our tests are finding it,” Dr. Lanzino says. „But there is no question that over time, we are seeing more patients with moyamoya disease.”

• #2 Moyamoya Disease: Epidemiology, Clinical Features, and Diagnosis

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4747069/

  The peak appears to occur later in women than men. […] An epidemiology study from Korea based on National Health Insurance (NHI) data reported that the prevalence of MMD increased from 6.3/100,000 in 2004 to 9.1/100,000 in 2008. […] The incidence was 1.0/100,000 in 2008. […] According to a study using the data set obtained from 2007 to 2011, the number of incident MMD cases increased from 848 to 1,192, with the annual incidence being 1.7 to 2.3/100,000. […] In both studies, the female-to-male ratio was 1.9, and there were two peaks of incidence; the peak in the pediatric group occurred at age 5 to 14 years, accounting for 16.2% of all incident cases, and the peak in the adult group occurred at age 45 to 54 years, accounting for 22.8%. […] As shown in Table 1, there is an increasing incidence and prevalence of MMD over time in East Asian countries.

• #2 Moyamoya Disease: Epidemiology, Clinical Features, and Diagnosis

  https://www.j-stroke.org/journal/view.php?doi=10.5853/jos.2015.01627

  Moyamoya disease (MMD) is a chronic, occlusive cerebrovascular disease characterized by progressive stenosis at the terminal portion of the internal carotid artery and an abnormal vascular network at the base of the brain. […] Although its etiology remains unknown, recent genetic studies identified RNF213 in the 17q25-ter region as an important susceptibility gene of MMD among East Asian populations. […] Possibly because of genetic differences, MMD is relatively common in people living in East Asian countries such as Korea and Japan, compared to those in the Western Hemisphere. […] The prevalence of MMD appears to be slightly lower among Chinese, compared to Koreans or Japanese. […] There are two peaks of incidence with different clinical presentations, at around 10 years and 30-40 years.

• #2 Moyamoya disease | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/moyamoya-disease-1?case_id=moyamoya-disease-11

  Moyamoya disease is a disease of children and young people, with a bimodal age distribution: early childhood: peak ~4 years of age (two-thirds) […] middle age: 30-40 years of age (one-third). The condition was initially described in Japanese patients, where it is still most common, in which ~12.5% (range 10-15.4%) of cases are familial.

• #2 Moyamoya: Epidemiology, Presentation, and Diagnosis | Neupsy Key

  https://neupsykey.com/moyamoya-epidemiology-presentation-and-diagnosis/

  Although the cause and pathogenesis of moyamoya disease are poorly understood, genetic factors play a major role. The familial incidence of affected first-degree relatives in Japan is 10%, with a rate of 6% reported in a recent series in the United States. Associations with loci on chromosomes 3, 6, 8, and 17 (MYMY1, MYMY2, MYMY3) as well as specific human leukocyte antigen haplotypes have been described. However, despite evidence supporting a genetic basis of moyamoya, important caveats remain. Reports exist of identical twins with only 1 affected sibling. These data support the premise that environmental factors precipitate the syndromes clinical emergence in susceptible patients. Ultimately, the pathogenesis of moyamoya will likely involve genetic and environmental factors.

• #2 Moyamoya: Epidemiology, Presentation, and Diagnosis | Neupsy Key

  https://neupsykey.com/moyamoya-epidemiology-presentation-and-diagnosis/

  Moyamoya syndrome is an increasingly recognized arteriopathy associated with cerebral ischemia and has been associated with approximately 6% of childhood strokes. […] First described in Japan and originally considered a disease that predominantly affected individuals of Asian heritage, moyamoya syndrome has now been observed throughout the world and affects individuals of many ethnic backgrounds, with increasing detection of this disease in American and European populations. There are 2 peak age groups: children at 5 years of age and adults in their mid-40s. There is a gender predominance with females affected nearly twice as often as males. Moyamoya is the most common pediatric cerebrovascular disease in Japan with a prevalence of approximately 3/100,000. A recent European study cited an incidence about 1/10th of that in Japan. Studies in the United States suggest an incidence of 0.086/100,000 persons (about 1 in a million). Studies of individual ethnic groups suggest that moyamoya is more common in Americans of Asian or African American descent compared with whites or Hispanics. Ethnicity-specific incidence rate ratios compared with whites were 4.6 for Asian Americans, 2.2 for African Americans, and 0.5 for Hispanics.

• #2 Moyamoya disease

  https://www.redalyc.org/journal/1631/163164976008/html/

  Moyamoya disease is a chronic neurovascular disease characterized by progressive bilateral stenosis of the internal carotid arteries with abnormal formation of new abnormal blood vessels whose blockage of blood flow causes a variety of clinical manifestations and complications associated with acute cerebrovascular events (ischemic or hemorrhagic), which may even be fatal. […] This is a rare disease with a very low prevalence in Hispanics, with seizures and stroke symptoms being among the least frequent manifestations in adults. […] However, it may affect people of any ethnic background. In Japan, a prevalence of 3.16 per 100,000 inhabitants has been found, while in the United States (US) the disease prevalence has been found to be 0.086 per 100,000 inhabitants. […] In Colombia, in 2013, only four cases of moyamoya disease had been described, all in children; while in 2015, only one case of an adult female patient was reported, with a fatal outcome.

• #2 Imaging and epidemiology of Moyamoya Vasculopathy: Case report and brief review – Pediatric Stroke Journal

  https://pediatricstrokejournal.com/imaging-and-epidemiology-of-moyamoya-vasculopathy-case-report-and-brief-review/

  Age is a factor, as moyamoya disease presents with a bimodal age distribution with peaks at approximately 10 and 40 years of age. […] Moyamoya disease also occurs at an approximately two-fold higher rate in females than males. […] In Caucasian populations, moyamoya disease occurs more frequently in patients with autoimmune diseases. […] A systematic review identified post-radiation vasculopathy in 5% – 20% of patients that underwent proton and photon radiation. […] When available, screening with MRI and/or MRA is warranted in populations deemed high-risk for the development of moyamoya vasculopathy.

• #2 Epidemiology of Moyamoya Disease in Korea: Based on National Health Insurance Service Data

  https://www.jkns.or.kr/journal/view.php?viewtype=pubreader&number=637

  There have been a few studies reporting the epidemiology of moyamoya disease in Korea. Previous studies revealed relatively high prevalence and incidence of moyamoya disease in Korea and Japan. This study was designed to provide the latest epidemiologic information of moyamoya disease in Korea. We analyzed a database comprising of 50 million people covered in Korea by the National Health Insurance Service to calculate the prevalence. The incidence was estimated by eliminating the duplicated records of previous 3 years. We summarized the prevalence and incidence according to age, sex, and local distribution. […] The standardized prevalence was 6.5 per 100000 persons in 2005, which was increased to 18.1 in 2013. In the same period, standardized incidence was increased from 2.7 to 4.3 per 100000 persons.

• #2 Ocular Manifestations of Moyamoya Disease – EyeWiki

  https://eyewiki.org/Ocular_Manifestations_of_Moyamoya_Disease

  The incidence of MMD is highest among Japanese and Koreans, and much lower in Caucasians. In 2003, the incidence of MMD was reported to be 0.54 per 100,000 in Japanese populations, which is ten times the incidence in North America and Europe. The male to female ratio was 1:1.8, and the peak of prevalence was in the second decade in males age in the third decade for females. There are rare cases presented Familial cases of MMD were reported to be 12.1%. While other case reports in North America were found to be isolated and ~ 4% familial. In a National inpatient sample at USA (2002-2008) incidence was 0.57 per 100000 people per year. The prevalence and incidence where highest in the ones with Asian origin (mainly Japanese) in a similar rate than reported in Japanese studies. Furthermore, MMD is associated with Trisomy 21, with some sources reporting a 26-fold increase in the prevalence of MMD among patients with Trisomy 21. […] The estimated prevalence of MMD in Japan almost doubled between 1994 to 2003, probably due to advances in neuroradiological diagnostic techniques, which helped identify new cases.

• #2

  https://journals.lww.com/md-journal/fulltext/2022/12020/case_report__moyamoya_disease,_the_culprit_in_an.109.aspx

  The diagnosis of Moyamoya disease is made by identifying the unique appearance of bilateral stenosis in the distal internal carotid arteries or proximal portion of the anterior and/or middle cerebral arteries with the characteristic prominent collateral vessels on angiographic imaging. […] Although conventional digital subtraction angiography is the gold standard for the diagnosis of this disease, noninvasive imaging such as CT angiogram or MR angiogram have a high diagnostic value in Moyamoya disease. […] However, HR-VWI is a newer advanced multi-contrast noninvasive technique that has been developed in recent years to allow detailed characterization of the vessel wall greatly improving diagnostic accuracy of several cerebral vasculopathies compared to traditional imaging. […] One study showed that using HR-VWI along with digital subtraction angiography, CTA or MR angiography significantly improved the accuracy of diagnosing Moyamoya disease from 31.6% to 86.8%; and the most common findings were no post-contrast vessel wall enhancement and absence of eccentric wall thickening.

• #2 Moyamoya Disease

  https://practicalneurology.com/articles/2020-jan/moyamoya-disease

  Although most pediatric moyamoya cases are idiopathic, there are population-based patterns. Historically, Asian ancestry is an increased risk factor for moyamoya, with up to 56% of Asian-Americans with moyamoya harboring a specific mutation of RNF213. […] In North America, only a small minority of pediatric moyamoya cases (5%) appear to have clear associations with specific mutations, unless the children have Asian heritage (for whom RNF213 mutations exist in 30%-50%). […] When moyamoya is diagnosed in a child, families are frequently concerned about the need to screen other siblings and relatives. Initial screening commonly includes an MRI and MRA, looking for the defining radiographic characteristics of moyamoya. […] Indications for radiographic screening are still to be defined, but because the rate of familial involvement is low (3.4% in a large North American series), initial screening of unaffected family members is generally reserved for first-degree relatives of those who have other first- or second-degree relatives with 1) established moyamoya diagnosis, 2) clinical histories strongly suggestive of moyamoya (eg, TIA, stroke, severe headaches or seizures without identified cause), or 3) identical twins.

• #2 Moyamoya Disease: What It Is, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/17244-moyamoya-disease

  As many as 15% of people of Japanese descent with moyamoya disease have one or more biological family members with the condition. Thats a sign that the condition is likely genetic, but the inheritance pattern is unknown. […] Moyamoya disease treatment involves managing your symptoms with certain medications. […] Theres no proven way to prevent genetic forms of moyamoya disease. But you can lower your risk of developing moyamoya syndrome by managing vascular risk factors and reducing your risk of atherosclerosis. […] For most people with moyamoya disease, the condition gets worse over time. […] With early diagnosis and prompt treatment, people with moyamoya disease can have a normal life expectancy. Without treatment, moyamoya disease can be fatal.

• #2 Moyamoya disease and moyamoya syndrome: Treatment and prognosis – UpToDate

  https://www.uptodate.com/contents/moyamoya-disease-and-moyamoya-syndrome-treatment-and-prognosis

  Moyamoya is a progressive intracranial vasculopathy that can lead to neurologic complications due to impaired cerebral circulation, including ischemic stroke and intracranial hemorrhage. […] However, supportive management may reduce the risk of complications, and imaging surveillance can help to identify patients who are at the highest risk for future ischemic and hemorrhagic complications and would benefit from surgical revascularization. […] Surgical revascularization for moyamoya is typically indicated both for patients who are symptomatic and for asymptomatic patients with neuroimaging findings suggestive of severe impairment of resting blood flow or impaired hemodynamic perfusion reserve.

• #2 Moyamoya Disease Causes, Symptoms, Treatment, Surgery

  https://www.medicinenet.com/moyamoya_disease/article.htm

  Moyamoya disease was first noted in Japan in 1957 and it is seen mainly in Japan and other countries in Asia. The disease is diagnosed less frequently in Europe and North America. […] Moyamoya disease can occur in children and adults. There are two times the disease incidence peaks: most commonly, at about 10 years of age in children and between ages 30 to 50 in adults. […] In general, the earlier patients are diagnosed and treated, the better the outcome. Patients who are diagnosed early and treated promptly with surgical intervention can have a normal life expectancy. […] Moyamoya disease is progressive, and patients who are not treated often suffer cognitive and neurologic decline due to repeated ischemic stroke or hemorrhage. […] Without surgery, most patients with Moyamoya disease will suffer from multiple strokes and a mental decline because of the progressive narrowing of arteries. If left untreated, Moyamoya disease can be fatal as the result of intracerebral hemorrhage (bleeding within the brain).

• #3 Moyamoya Disease: Epidemiology, Clinical Features, and Diagnosis

  https://www.j-stroke.org/journal/view.php?doi=10.5853/jos.2015.01627

  Moyamoya disease (MMD) is a chronic, occlusive cerebrovascular disease characterized by progressive stenosis at the terminal portion of the internal carotid artery and an abnormal vascular network at the base of the brain. […] Although its etiology remains unknown, recent genetic studies identified RNF213 in the 17q25-ter region as an important susceptibility gene of MMD among East Asian populations. […] Possibly because of genetic differences, MMD is relatively common in people living in East Asian countries such as Korea and Japan, compared to those in the Western Hemisphere. […] The prevalence of MMD appears to be slightly lower among Chinese, compared to Koreans or Japanese. […] There are two peaks of incidence with different clinical presentations, at around 10 years and 30-40 years.

• #3 Moyamoya: Epidemiology, Presentation, and Diagnosis | Neupsy Key

  https://neupsykey.com/moyamoya-epidemiology-presentation-and-diagnosis/

  Moyamoya syndrome is an increasingly recognized arteriopathy associated with cerebral ischemia and has been associated with approximately 6% of childhood strokes. […] First described in Japan and originally considered a disease that predominantly affected individuals of Asian heritage, moyamoya syndrome has now been observed throughout the world and affects individuals of many ethnic backgrounds, with increasing detection of this disease in American and European populations. There are 2 peak age groups: children at 5 years of age and adults in their mid-40s. There is a gender predominance with females affected nearly twice as often as males. Moyamoya is the most common pediatric cerebrovascular disease in Japan with a prevalence of approximately 3/100,000. A recent European study cited an incidence about 1/10th of that in Japan. Studies in the United States suggest an incidence of 0.086/100,000 persons (about 1 in a million). Studies of individual ethnic groups suggest that moyamoya is more common in Americans of Asian or African American descent compared with whites or Hispanics. Ethnicity-specific incidence rate ratios compared with whites were 4.6 for Asian Americans, 2.2 for African Americans, and 0.5 for Hispanics.

• #3 Moyamoya Disease: Epidemiology, Clinical Features, and Diagnosis

  http://j-stroke.org/journal/view.php?viewtype=pubreader&number=113

  Moyamoya disease (MMD) is relatively common in people living in East Asian countries such as Korea and Japan, compared to those in the Western Hemisphere. […] According to a survey performed in Japan in 1995, the prevalence of MMD was approximately 3.16/100,000, with an estimated incidence of 0.35/100,000. […] A subsequent survey in 2004 showed that the number of patients considerably increased, with an estimated incidence of 0.54/100,000, and prevalence of 6.03/100,000 in 2003. […] An epidemiology study from Korea based on National Health Insurance (NHI) data reported that the prevalence of MMD increased from 6.3/100,000 in 2004 to 9.1/100,000 in 2008. […] According to a study using the data set obtained from 2007 to 2011, the number of incident MMD cases increased from 848 to 1,192, with the annual incidence being 1.7 to 2.3/100,000.

• #3 Epidemiology of Moyamoya Disease in Korea: Based on National Health Insurance Service Data

  https://www.jkns.or.kr/journal/view.php?viewtype=pubreader&number=637

  There have been a few studies reporting the epidemiology of moyamoya disease in Korea. Previous studies revealed relatively high prevalence and incidence of moyamoya disease in Korea and Japan. This study was designed to provide the latest epidemiologic information of moyamoya disease in Korea. We analyzed a database comprising of 50 million people covered in Korea by the National Health Insurance Service to calculate the prevalence. The incidence was estimated by eliminating the duplicated records of previous 3 years. We summarized the prevalence and incidence according to age, sex, and local distribution. […] The standardized prevalence was 6.5 per 100000 persons in 2005, which was increased to 18.1 in 2013. In the same period, standardized incidence was increased from 2.7 to 4.3 per 100000 persons.

• #3 Burden of Psychiatric Disorders in Moyamoya Disease: A National Inpatient Perspective From 2007–2014

  https://www.psychiatrist.com/pcc/burden-psychiatric-disorders-moyamoya-disease-national-inpatient-perspective-from-2007-2014/

  Moyamoya disease is a rare chronically progressive cerebrovascular disease. […] A few publications have described the epidemiology of Moyamoya disease in the United States by using the National Inpatient Sample (NIS) and Mayo Clinic databases. […] The prevalence of Moyamoya disease has increased by approximately 1.5 to 2 times. […] This trend may represent a true increase, or it may represent an increase in awareness of the disease. […] Intensive monitoring is required to better understand this trend and the factors associated with it.

• #3 Imaging and epidemiology of Moyamoya Vasculopathy: Case report and brief review – Pediatric Stroke Journal

  https://pediatricstrokejournal.com/imaging-and-epidemiology-of-moyamoya-vasculopathy-case-report-and-brief-review/

  Age is a factor, as moyamoya disease presents with a bimodal age distribution with peaks at approximately 10 and 40 years of age. […] Moyamoya disease also occurs at an approximately two-fold higher rate in females than males. […] In Caucasian populations, moyamoya disease occurs more frequently in patients with autoimmune diseases. […] A systematic review identified post-radiation vasculopathy in 5% – 20% of patients that underwent proton and photon radiation. […] When available, screening with MRI and/or MRA is warranted in populations deemed high-risk for the development of moyamoya vasculopathy.

• #3 Epidemiology for Moyamoya Disease in Children – ISPN Guide

  http://ispn.guide/vascular-disorders-of-the-nervous-system-in-children/moyamoya-disease-in-children-homepage/epidemiology-for-moyamoya-disease-in-children/

  Family history: Positive family history is a strong risk factor. The incidence in siblings and offspring of probands are about 3% and 2.4%, respectively, 42 and 34 times higher than general population, although this may be lower in North American populations (14,30). […] By definition, Moyamoya Disease should not accompany other underlying diseases or conditions. However, the below listed conditions can give rise to a quasi Moyamoya Disease state and they can be a window into the basic pathophysiologic mechanism of of it.

• #3 Ocular Manifestations of Moyamoya Disease – EyeWiki

  https://eyewiki.org/Ocular_Manifestations_of_Moyamoya_Disease

  The incidence of MMD is highest among Japanese and Koreans, and much lower in Caucasians. In 2003, the incidence of MMD was reported to be 0.54 per 100,000 in Japanese populations, which is ten times the incidence in North America and Europe. The male to female ratio was 1:1.8, and the peak of prevalence was in the second decade in males age in the third decade for females. There are rare cases presented Familial cases of MMD were reported to be 12.1%. While other case reports in North America were found to be isolated and ~ 4% familial. In a National inpatient sample at USA (2002-2008) incidence was 0.57 per 100000 people per year. The prevalence and incidence where highest in the ones with Asian origin (mainly Japanese) in a similar rate than reported in Japanese studies. Furthermore, MMD is associated with Trisomy 21, with some sources reporting a 26-fold increase in the prevalence of MMD among patients with Trisomy 21. […] The estimated prevalence of MMD in Japan almost doubled between 1994 to 2003, probably due to advances in neuroradiological diagnostic techniques, which helped identify new cases.

• #3 Moyamoya disease: insights into the clinical implications of the RNF213 gene

  https://www.e-jcpp.org/journal/view.php?number=95

  The diagnosis of MMD has been expanded to include both bilateral and unilateral cases, eliminating the previous categories of „definite” and „probable” from the diagnostic criteria. This modification addresses the increasing incidence of unilateral cases and acknowledges that such cases frequently evolve into bilateral conditions. […] The updated criteria also emphasize the importance of heavy T2-weighted MRI images in diagnosing MMD.

• #3 Indirect bypass surgery as a line of management of pediatric moyamoya disease | Egyptian Journal of Neurosurgery | Full Text

  https://ejns.springeropen.com/articles/10.1186/s41984-024-00322-4

  There is no role for medical treatment in MMD. It can only be used to prevent secondary complications and for ischemic and hemorrhagic symptoms treatment. Surgical treatment is gold standard for MMD treatment. […] Indirect revascularization surgeries depend on using vascularized tissues as a source of blood supply and to enhance neo-angiogenesis. They include encephalo-myo-synangiosis (EMS), encephalo-duro-arterio-synangiosis (EDAS), multiple burr-hole operation, EDMS, and encephalo-duro-myo-arterio-pericranio-synangiosis (EDMAPS). […] Therefore, EDMS surgery is adopted in this study as the highly vascularized temporalis muscle directly contacts the brain surface as well as dura matter with its intact middle meningeal artery. […] Although some studies have shown clinical improvement of neurological status over time, our study showed stationary mRS for all patients, with noticeable improvement of frequency of TIAs in the TIA group.

• #4 Moyamoya: New protocol for managing a complex disease – Mayo Clinic

  https://www.mayoclinic.org/medical-professionals/neurology-neurosurgery/news/moyamoya-new-protocol-for-managing-a-complex-disease/mac-20513216

  Moyamoya disease can occur at any age, but symptoms are most common in children ages 5 to 10 and adults ages 30 to 50. […] Anecdotal evidence suggests that moyamoya disease, originally described in East Asian populations, might be increasing in prevalence among Western populations. „It’s difficult to know if there is a true increase in the disease incidence or if we have a lower threshold for suspecting moyamoya disease and our tests are finding it,” Dr. Lanzino says. „But there is no question that over time, we are seeing more patients with moyamoya disease.”

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