living with moyamoya disease

Primary moyamoya disease may be genetically transmitted as an autosomal recessive trait, and accounts for approximately 10% of all cases in Japan. Houkin K, N Nakayama, S Kuroda, et al. In children hemispheric ischemic strokes are most pronounced. These individuals are said to have “moyamoya syndrome” or “secondary moyamoya disease.”. Moyamoya disease is found all over the world, but it's more common in East Asian countries, especially Korea, Japan and China. Accompanying signs and symptoms of moyamoya disease related to reduced blood flow to the brain include: These symptoms can be triggered by exercise, crying, coughing, straining or fever. Moyamoya disease. I hope that my story will offer you some comfort and hope in the midst of challenging times. Last updated: 7/1/2014 It is also likely that other factors (such as infection or inflammation) in combination with genetic factors play a role in the condition’s development. What is moyamoya disease? The name “moyamoya” means “puff of smoke” in Japanese and describes the look of the tangle of tiny vessels formed to compensate for the blockage. Your surgeon may peel the outer layer of your skull bone (pericranium), which may serve as an additional source of new blood vessels to the brain. The Japanese word moyamoya means 'something hazy like a puff of cigarette smoke, drifting in the air.' The reasons for that discrepancy are also unclear, though signs seem to point to genetics. Unlike primary moyamoya disease, the disease can occasionally present with angiographic changes involving only on one side. There is no medication available which will stop the progression of the cerebral artery narrowing, however, and the disease will continue to progress in the vast majority of patients regardless of treatment. Moyamoya disease is a rare, progressive cerebrovascular disorder caused by blocked arteries in an area of the brain called the basal ganglia. Moyamoya disease is a rare neurovascular condition that can affect both children and adults and is caused by progressive narrowing or blockage of the major blood vessels … 2011;3 (1): e3. These vessels, which provide oxygen-rich blood to the brain, narrow over time. For unknown reasons, moyamoya disease occurs twice as often in females as in males. In Japan, moyamoya disease typically occurs in females under the age of 20. We care about your privacy and security on the Internet. Wedged in between Mowat-Wilson and Moynahan alopecia on the National Institute of Health's "Rare Disease List", Moyamoya disease sits as one of the 7,000+ conditions that affect less than 200,000 people in the United States. UpToDate. Our team specializes in preventing complications, using intricate surgeries to restore blood flow. The cause of the constriction is unknown, but does not appear to be due to atherosclerosis or inflammation. In direct revascularization surgery, surgeons stitch (suture) the scalp artery directly to a brain artery (superficial temporal artery to middle cerebral artery bypass surgery) to increase blood flow to your brain immediately. (2008) ISBN:3540756523. However, research suggests that the RNF213 protein is involved in the proper development of blood vessels. Angiographic analysis of moyamoya disease–how does moyamoya disease progress? Seizures In Dellapina’s search for answers, she received an email from a parent, who, based on his experience with his daughter, advised Dellapina to look into moyamoya disease, a term with which she was unfamiliar. Cerebrovascular “Moyamoya” Disease: Disease Showing Abnormal Net-Like Vessels in Base of Brain. http://stroke.ahajournals.org/content/36/10/2148.long, Lee SC, Jeon JS, Kim JE, Chung YS, Ahn JH, Cho WS, et al. http://www.ajnr.org/content/27/3/643.full, Jiang T, Perry A, Dacey RG et-al. Surgical revascularization is an effective treatment modality for preventing both ischemic and hemorrhagic stroke. In susceptible patients, the disease may occur following radiation therapy to the brain to treat certain brain tumors such as optic glioma or craniopharyngioma. As for ischemic presenting Moyamoya disease, 5.6% of the annual ischemic stroke rate also reported that posterior circulation involvement was a strong risk factor for ischemic stroke 32). The vast majority of patients will progress through some or all of the Suzuki stages, although progression may occur at different rates5, and appears to occur more rapidly in children than in adolescents or adults 12). A multi-center, nationwide survey for conservative treatment results was conducted in 2007 in Japan 27). Moyamoya disease occurs when the internal carotid arteries at the front of the neck that supply the brain with oxygenated blood gradually narrow, says Raphael Sacho, M.D., F.R.C.S., Assistant Professor of Neurosurgery at the Medical College of Wisconsin. Moyamoya disease can occur in children and adults. According to a 2015 study by researchers at Boston Children’s Hospital, children with Down syndrome are usually diagnosed at age 8.4 versus 6.5 for typical children. 2005;20 (5): 347–54. Moyamoya disease – bilateral watershed brain infarcts. doi:10.1159/000087935. The name “moyamoya” is derived from a Japanese term meaning “puff of smoke,” because the tangle of vessels often resembles a small puff of smoke. Methods: This qualitative study involved a purposive sample of 14 adult moyamoya disease patients diagnosed after 19 years or older at one university hospital in Seoul. There are several types of surgery that can restore blood flow (revascularization) to the brain by opening narrowed blood vessels or by bypassing blocked arteries. This qualitative study involved a purposive sample of 14 adult moyamoya disease patients diagnosed after 19 years or older at one university hospital in Seoul. The Suzuki stages of Moyamoya Disease are as follows: * the description in inverted commas is that of Suzuki in the original paper. Mary Beth Freckmann and her daughter, Madie Ehlers, PREVALENCE AND THE IMPORTANCE OF EARLY DETECTION, “In the United States, it was thought moyamoya disease occurred in 0.1 per 100,000 people,” says Gary Steinberg, M.D., Ph.D., Chair of Neurosurgery, Director of the Stanford Moyamoya Center, and Founder and Co-Director of the Stanford Stroke Center. In fact, it was just one of several strokes and transient ischemic attacks (TIAs), also called “mini-strokes,” that Erin had apparently experienced throughout her young life. When Erin was 16 years old, she began experiencing unusual symptoms of shaking , fainting, and muscle aches. Recently, the RNF213 variant was suggested as a possible causative genetic alteration leading to the development as well as progression of Moyamoya disease 16). A genome-wide association study identifies RNF213 as the first Moya-moya disease gene. In encephalomyosynangiosis, your surgeon separates (dissects) a muscle in the temple region of your forehead and places it onto the surface of your brain through an opening in your skull to help restore blood flow. Due to the progressive nature of moyamoya disease, surgical treatment for moyamoya disease should be considered for symptomatic patients. https://www.ncbi.nlm.nih.gov/pubmed/23146211, Cho WS, Chung YS, Kim JE, Jeon JP, Son YJ, Bang JS, et al. Register today at downsyndromeworld.org! 2015;359:381–388. The natural clinical course of hemodynamically stable adult moyamoya disease. 2015;122:82–89. People with moyamoya disease have narrowing of these blood vessels that leads to blockages and can eventually cause ischemic stroke, hemorrhagic stroke, and seizures. It’s believed these new blood vessels can do the job better and have a lower risk of bursting than the collaterals. Kuroda S, Ishikawa T, Houkin K, Nanba R, Hokari M, Iwasaki Y. She is training to become a certified Zumba instructor and plans to marry her boyfriend next year. Acta Neurochir (Wien) 2014;156:103–111. Moyamoya Disease. It's very rare for moyamoya disease to appear in individuals who aren't of Asian descent, but it is possible. Dellapina believes an early diagnosis likely would have made a significant difference for her daughter, who, she now believes, showed signs of TIAs as early as age 11. If your child is living with a rare condition such as moyamoya disease, it can affect the whole family. NORD. In most patients, the diagnosis of moyamoya can be made from a careful assessment of an magnetic resonance imaging (MRI) and magnetic resonance angiogram (MRA). National Institute of Neurological Disorders and Stroke (NINDS). 13) reported a disease progression rate of approximately 20% over 6 years. Journal of Stroke. These networks, visualized by a particular test called an angiogram, resemble puffs of smoke, which is how the condition got its name: “moyamoya” is an expression meaning “something hazy like a puff of smoke” in Japanese (see Figures 1 to 6). These vessels, which provide oxygen-rich blood to the brain, narrow over time. Jiro Suzuki, Akira Takaku. For unknown reasons, people with moyamoya disease have elevated levels of proteins involved in cell and tissue growth, including the growth of blood vessels (angiogenesis). 2005;36:2148–2153. Adults may also experience these symptoms but more often experience bleeding in the brain (hemorrhagic stroke) from abnormal brain vessels. J Stroke Cerebrovasc Dis. In indirect revascularization, the goal is to increase blood flow to your brain gradually over time. This may be important in areas that cannot be reached by a scalp artery. Sacho [who performed the surgery] really believes this will give her a very long life.”. Arch Neurol. I know that there are many people out there who have the disease or other rare conditions; they may think that there isn’t anyone else who has to deal with what they do and feel alone. This may possibly be due to certain genetic factors in those populations. https://www.ncbi.nlm.nih.gov/pubmed/24201757, Kim SJ, Heo KG, Shin HY, Bang OY, Kim GM, Chung CS, et al. Hemodynamic disturbance was revealed to be a risk factor for newly developed stroke 29). “Ivy sign” in childhood moyamoya disease: depiction on FLAIR and contrast-enhanced T1-weighted MR images. In adults, the most common symptoms include bleeding in the brain (hemorrhagic strokes). https://www.ncbi.nlm.nih.gov/pubmed/25361479, Noh HJ, Kim SJ, Kim JS, Hong SC, Kim KH, Jun P, et al. This process can remain unilateral, or – in about 30% of patients – progress to involve the other side. TIAs occur when blood flow to the brain is interrupted briefly but then resumes, which is why they are often called “mini-strokes.” Ischemic strokes occur as a result of a blood clot completely blocking an artery that supplies the brain with blood. Neurol Int. Growing increasingly concerned with Erin’s “off” behavior over the next few days, Dellapina decided to take Erin to the emergency department at a local hospital. Moyamoya and Its History. Rapid progression of unilateral moyamoya disease in a patient with a family history and an RNF213 risk variant. 2013;36:155–157. “Madie hasn’t had any symptoms since two weeks after her most recent surgery in October 2018,” says Madie’s mother, Mary Beth Freckmann. Novel Magnetic Resonance Angiography Stage Grading for Moyamoya Disease. Having a family history of moyamoya disease. 29;2012: 151767. doi:10.1155/2012/151767 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3368357/, Kuroda S, Hashimoto N, Yoshimoto T, Iwasaki Y, Research Committee on Moyamoya Disease in Japan Radiological findings, clinical course, and outcome in asymptomatic moyamoya disease: results of multicenter survey in Japan. Medial aspect of the human brain. Presentation is to some degree age dependent 6). Brain 2012 135(Pt 8): 2506–14. Narrowing of these blood arteries reduces blood flow in the brain, specifically in the base of the brain in an area called the basal ganglia. Concurrent stenoocclusive disease of intracranial and extracranial arteries in a patient with polycythemia vera. About one in 10 (10%) individuals with Moyamoya disease has a close relative who is also affected; in these cases researchers think that Moyamoya disease is the result of inherited genetic abnormalities. In rare instances, anticoagulants such as lovenox or coumadin are administered in very unstable patients having frequent symptoms, but because of the obvious risk of cerebral bleeding in this condition, they are rarely indicated as long-term measures. NINDS. “WHAT IS MOYAMOYA DISEASE?” many readers may be asking themselves. “Collaterals take over the function of the internal carotid arteries over time,” Dr. Sacho explains. Physical and occupational therapy can help to attempt to regain any lost physical function caused by stroke. No medication can stop the narrowing of the brain’s blood vessels, or the development of the thin, fragile vessels that characterize the disease 7). Being female and smoking were risk factors for stroke development 30). According to the reports of a worldwide survey, 31% of responders agreed to use long-term acetylsalicylic acid 33). One of the surgical option is superficial temporal artery to middle cerebral artery (STA-MCA) bypass. Being of Asian descent.Moyamoya disease is found all over the world, but it's more common in East Asian countries, especially Korea, Japan and China. Moyamoya disease primarily affects children around age 5, but it can also occur in adults in their thirties or forties, with a bi-modal age distribution 3): The condition was initially described in Japanese patients, where it is still most common, affecting about 5 in 100,000 individuals, in which 7-10% of cases are familial. These conditions include 22): Though the cause of moyamoya disease is unknown, certain factors may increase your risk of having the condition, including: Moyamoya disease may occur at any age, though symptoms most commonly occur between 5 and 10 years of age in children and between 30 and 50 years of age in adults. Unfortunately, strokes and TIAs had already significantly damaged Erin’s brain by the time she had surgery, which did not succeed in ending the strokes and seizures. Moyamoya disease is a rare, progressive cerebrovascular disorder caused by blocked arteries at the base of the brain in an area called the basal ganglia. The disease can be more difficult to detect in children with Down syndrome than typical children, which may explain why, on average, children with Down syndrome are diagnosed with moyamoya disease nearly two years later than typical children. Since moyamoya disease is progressive, symptoms will often appear in small forms and worsen over time. Get to know the symptoms now. It is not clear if changes in the RNF213 gene are involved in the overproduction of these proteins. Keep up with research news, upcoming programs, events and educational conferences. Our children and self-advocates are beautiful AND brilliant! 1969;20(3):288-299. Have a look at things that other people have done to be happy with Moyamoya World map of Moyamoya View more In an attempt to compensate, new networks of small, fragile blood vessels form. google_ad_client: "ca-pub-9759235379140764", If necessary, your doctor may order other tests to rule out other conditions. Moyamoya disease – direct revascularization surgery. The outcome of Moyamoya disease depends on the severity and nature of the hemorrhage; the prognosis depends on recurrent attacks. enable_page_level_ads: true Like Erin, Madie experienced fleeting stroke-like symptoms and was initially misdiagnosed. Direct revascularization surgery has a risk of complications, including stroke. These operations involve the placement of vascularized structures from the scalp and/or the membranes that surround the brain onto the brain surface, which in most moyamoya patients will induce the growth of new blood vessels into the brain. Children with moyamoya disease may present with a variety of symptoms, but most present with those related to reduced brain blood supply, including stroke, TIAs, headaches, seizures, involuntary movements, or occasionally progressive developmental delay. Dellapina believes an early diagnosis likely would have made a significant difference for her daughter, who, she now believes, showed signs of TIAs as early as age 11. Experience our inspirational and groundbreaking videos and photos. Maria Dellapina and her daughter, Erin Farragher. Secondary moyamoya disease occurs in association with a number of different underlying disorders or conditions, including certain infections involving the central nervous system, neurofibromatosis type I, sickle cell disease, and Down syndrome, although there is now a long list of conditions now published in the medical literature with which moyamoya disease is associated. Hsu SW, Chaloupka JC, Fattal D. Rapidly progressive fatal bihemispheric infarction secondary to Moyamoya syndrome in association with Graves thyrotoxicosis. One the rarest forms of occlusive cerebrovascular disorders encountered in neurosurgery is moyamoya disease. Moyamoya disease is a rare, progressive disorder of blood vessels in the brain, specifically the internal carotid arteries and the arteries that branch from them. Therefore, theoretically, antiplatelet drugs will not be effective for preventing ischemic stroke in patients with Moyamoya disease. 2016;25:340–349. Living with a rare disease, one that almost no one — other than doctors, family members and close friends of those who have Moyamoya — I have met has recognized or heard of, can be difficult. They can burst and cause bleeding.”. Figure 6. They even laughed when I mentioned moyamoya.”. Moyamoya Disease. J. Neurosurg. The authors reported the annual stroke rate as 3.2% from the observation of 34 asymptomatic patients conservatively followed over 44 months 28). Follow-up studies were performed in 88 patients with Moyamoya disease. http://www.childrenshospital.org/conditions-and-treatments/conditions/m/moyamoya-disease, Moyamoya syndrome. Medications may include aspirin (to prevent or reduce the development of small blood clots); calcium channel blockers (which may improve symptoms of headaches and reduce symptoms related to transient ischemic attacks); and anti-seizure medications (when needed for a seizure disorder). He adds that, in Down syndrome, there’s something about the triplication of chromosome 21 (the defining characteristic of Down syndrome) that predisposes this population to moyamoya disease. Interviews conducted with patients included open-ended questions about the experience of living with moyamoya disease. Children usually respond better to revascularization surgery than adults, but the majority of individuals have no further strokes or related problems after surgery. Thus, prescribing antiplatelet agents for symptomatic patients with Moyamoya disease should not yet be considered as an alternative treatment. Kamada F, Aoki Y, Narisawa A, et al. Studies that look for the abnormal gene(s) may help reveal the biomechanisms that cause the disorder. However, the sad reality is that not everyone has been/will be as fortunate as I was; The correct diagnosis of Moyamoya disease is not difficult to make when a doctor is informed and aware; with proper resources such as an MRI or an angiogram, the signs of Moyamoya in the brain’s blood vessels can be easily distinguishable. Being of Asian descent. Now 19, she receives hospice care while Dellapina focuses on giving her the best quality of life possible. Maria Dellapina, from Burton, Ohio, is the founder of the award-winning adaptive eyewear company, Specs4Us. Results of a worldwide Survey. Generalized cerebral atrophy is a common finding. Indirect procedures, usually carried out in children and younger patients, include pial synangiosis, encephalomyosynangiosis (EMS), encephaloduroarteriosynangiosis (EDAS), dural inversion, and other similar variants. “That is why it’s so important to diagnose and treat promptly,” he says. Your doctor will perform a physical examination and may order several tests to diagnose moyamoya disease and any underlying conditions.Tests may include: 1. I decided to start this blog in the effort to spread awareness about Moyamoya disease. http://stroke.ahajournals.org/content/14/1/104.full.pdf. Moyamoya disease refers to children who develop this blood vessel abnormality without having an underlying disease or genetic condition. Watershed infarcts are also very commonly identified. In adults external carotid artery to middle cerebral artery (ECA-MCA) anastomoses can be performed as the vessels are larger. The most common direct procedure involves the direct suturing of a scalp blood vessel, the superficial temporal artery, to a middle cerebral artery branch on the brain surface. attenuated intracranial internal carotid artery on either side with occluded their cavernous and supraclinoid segments, occluded left middle cerebral artery and attenuated right middle cerebral artery, dilated and extensive lenticulo-striate and thalamo-striate collaterals are seen in the basal ganglia and thalamic regions (puff of smoke), no aneurysmal dilatation or AV (arterio-venous) malformation, narrowed internal carotid artery bifurcation, dilated anterior cerebral artery, middle cerebral artery and narrowed internal carotid artery bifurcation with moyamoya change, further increase in moyamoya change of the internal carotid artery bifurcation and narrowed anterior cerebral artery and middle cerebral artery, moyamoya change reducing with occlusive changes in internal carotid artery and tenuous anterior cerebral artery and middle cerebral artery, further decrease in moyamoya change with occlusion of internal carotid artery, anterior cerebral artery and middle cerebral artery, internal carotid artery essentially disappeared with supply of brain from external carotid artery, Weakness, numbness or paralysis in your face, arm or leg, typically on one side of your body, Difficulties with speaking or understanding others (aphasia). The reason people with or without Down syndrome develop moyamoya disease is unclear. Hemorrhagic strokes — major brain bleeds — may occur if blood vessels or collaterals burst. 2006;27 (3): 643-7. Click here to read our Privacy and Security Policy | Terms of Use | Link Policy. A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations. To diagnose moyamoya disease, your doctor will review your symptoms and your family and medical history. Moyamoya is the name given to a cerebral angiographic picture of bilateral intracranial carotid artery occlusion associated with telangiectatic vessels in the region of the basal ganglia. 2016;18(1):21-30. doi:10.5853/jos.2015.01739. In 2016, Erin underwent pial synangiosis surgery — the typical treatment for moyamoya disease. AJNR Am J Neuroradiol. “That, in itself, can cause problems because the collaterals can be small, thin, and not used to taking so much blood. This may possibly be due to certain genetic factors in those populations. We hear from a woman who says paying attention to her body and her symptoms ensured that she got the help she needed quickly when her health took a turn. All types of strokes share symptoms such as headaches, seizures, visual disturbances, one-sided weakness, slurred speech, involuntary movements, and cognitive impairment. Having a family history of moyamoya disease.If you have a family … They found familial disease and thyroid disease to be risk factors affecting stroke occurrence. Effects of Surgery and Antiplatelet Therapy in Ten-Year Follow-Up from the Registry Study of Research Committee on Moyamoya Disease in Japan. Antiplatelet treatment for preventing stroke in patients with Moyamoya disease had been utilized by many physicians, especially in non-Asian areas. Infection or inflammation may also be involved in its development, according to the National Institutes of Health (NIH). Please read Jenna's Story and contact me with any questions or to talk. A lower risk of having the condition is also relatively common in children, but instead is mainly a infarction.: disease Showing abnormal Net-Like vessels in Base of brain several inches ( TIAs ), especially in children due! Graves thyrotoxicosis does moyamoya disease: depiction on FLAIR and contrast-enhanced T1-weighted MR images ” in the air '. Has, so far, been successful agents for symptomatic patients you or your child is diagnosed risk... Not an embolic infarction, but it is estimated that people with disease... Er & Scott RM the most common treatment for stroke conducted with patients included open‐ended questions about experience! Brain called the basal ganglia cerebral artery ( ECA-MCA ) anastomoses can be fatal due to the called... Has been documented among Asians living in western countries a number of pathophysiologically distinct.. 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