Vad är Moyamoya?
Vid moyamoya förtjockas väggarna i hjärnans blodkärl. De blodkärl som framför allt drabbas är de yttersta (perifera) grenarna från de inre halspulsådrorna. De ansvarar för blodförsörjningen av viktiga områden i hjärnan.
Vad är cerebrovaskulär sjukdom?
Cerebrovaskulär sjukdom Samlingsbegrepp som innefattar stroke, TIA, asymtomatisk kärlsjukdom i hjärnan, cerebral venös trombos m m.
Moyamoya är en sällsynt sjukdom som drabbar hjärnans blodkärl och leder till försämrad blodcirkulation med återkommande attacker av övergående neurologiska symtom eller stroke. Blodflödet till hjärnan vid moyamoya kan undersökas med speciell avbildningsteknik.
Is moyamoya disease inherited?
In some families, risk for moyamoya disease is inherited . Changes in the RNF213 gene have been associated with the condition. There are other gene changes involved in moyamoya disease, that remain to be found. Factors such as infection or inflammation, likely also play a role in the condition’s development in these families.
Why does moyamoya occur twice as often in females?
For unknown reasons, moyamoya disease occurs twice as often in females as in males. The genetics of moyamoya disease are not well understood. Research suggests that the condition can be passed through families, and changes in one gene, RNF213, have been associated with the condition.
What is the NGS test for Moyamoya disease?
This is a next generation sequencing (NGS) test appropriate for individuals with clinical signs and symptoms, suspicion of, or family history of Moyamoya Disease. Sequence variants and/or copy number variants (deletions/duplications) within the RNF213 gene will be detected with >99% sensitivity.
What are the symptoms of moyamoya disease?
Affected people may also have disturbed consciousness, speech deficits (usually aphasia), sensory and cognitive impairments, involuntary movements, and vision problems. Researchers believe that Moyamoya disease is an inherited condition because it tends to run in families.