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"code": "G10",
"name": "Болезнь Гентингтона",
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"lead": "тяжелое прогрессирующее нейродегенеративное наследственное заболевание головного мозга",
"description": "Болезнь Гентингтона - одно из тяжелейших и постоянно прогрессирующих наследственных заболеваний нервной системы, обусловленной системной дегенерацией экстрапирамидных двигательных структур и коры головного мозга.",
"etiology": "<p>Причиной болезни Гентингтона является мутация гена на 4-й хромосоме, кодирующего белок гентингтин. Нарушение синтеза этого белка предопределяет избирательное повреждение нейронов базальных ганглиев различных структур мозга, прежде всего коры и экстрапирамидной системы. Заболевание передается по аутосомно-доминантному типу, при этом патологический ген проявляется очень часто, и к 70 годам болезнь проявляется практически у всех его носителей. Дети наследуют заболевание от одного из родителей с вероятностью 50 %.</p>",
"pathogenesis": "<p>Патогенез болезни Гентингтона малоизучен, однако известно, что первопричиной ее возникновения является мутация гена на четвертой хромосоме, вследствие чего нарушается синтез белка гентингтина, происходит его кодирование. Строение данного белка представляет собой повторяющиеся триплеты аминокислотных цепочек (цитозин-аденин-гуанин), из-за мутации гена происходит увеличение количества триплетов, удлинение аминокислотной цепочки. Белок гентингтин меняет свою информацию, соединяясь с другими белками, изменяется взаимодействие между ними. Это приводит к гибели нейронов одного из отделов головного мозга, повреждению стриатума («полосатого тела»), а также коры головного мозга.</p>",
"diagnostics": "<p>Физикальное обследование, иногда в сочетании с психологическим обследованием, позволяет определить область распространения болезни. </p>\r\n<p>Медицинская визуализация (компьютерная томография(КТ), магнитно-резонансная томография (МРТ) показывает только видимую атрофию мозга на прогрессирующей стадии заболевания. Методы функциональной нейровизуализации (фМРТ и позитронно-эмиссионная томография (ПЭТ)) могут показать изменения в активности мозга до появления клинических симптомов.</p>\r\n<p>Для проведения генетической диагностики болезни Хантингтона необходим забор крови с последующим определением количества повторов ЦАГ в каждом НТТ-аллеле. Положительный результат не подтверждает диагноз, поскольку может быть получен за несколько лет до появления первых симптомов. Однако отрицательный результат однозначно свидетельствует об отсутствии вероятности развития болезни Хантингтона.</p>\r\n<p>Эмбрионы, полученные в результате экстракорпорального оплодотворения, могут быть подвержены генетической диагностике болезни Хантингтона с применением преимплантационной генетической диагностики. При этом методе забирается одна клетка из 4-8-клеточного эмбриона и затем проверяется на генетическую патологию. Полученная информация может впоследствии быть использована при выборе здорового эмбриона для имплантации. Кроме того, возможна пренатальная диагностика для эмбриона или плода в утробе матери.</p>",
"treatment": "<p>В настоящее время отсутствует возможность предупредить прогрессирование заболевания, и лечение носит чисто симптоматический характер.</p>\r\n<p>Для уменьшения гиперкинеза используют нейролептики и бензодиазепины. При депрессии показаны амитриптилин или другие антидепрессанты. При акинетикоригидной форме применяют антипаркинсонические средства, но их эффект обычно невелик. Определенную роль играет лечебная физкультура, направленная на предупреждение контрактур и деформаций, поддержание навыков передвижения.</p>",
"prevention": "<p>Единственным методом первичной профилактики является медико-генетическое консультирование. При данном заболевании МГК позволяет:</p>\r\n<ul>\r\n<li>установить диагноз и тип наследования заболевания в консультируемой семье;</li>\r\n<li>определить генетический риск у консультируемых родственников, в т.ч. с помощью ДНК-диагностики (прогностическое тестирование);</li>\r\n<li>определить прогноз потомства и наиболее эффективный способ профилактики новых случаев заболевания (в т.ч. с помощью пренатальной и преимплантационной ДНК-диагностики);</li>\r\n<li>объяснить консультируемым лицам смысл полученной и проанализированной информации, оказать помощь в решении возникающих юридических, психологических, морально-этических, социальных и иных проблем.</li>\r\n</ul>",
"clinical_picture": "<p>Симптомы болезни Хантингтона могут проявиться в любом возрасте, но чаще это происходит в 35-44 года. На ранних стадиях происходят небольшие изменения личности, когнитивных способностей и физических навыков. Обычно первыми обнаруживают физические симптомы, так как когнитивные и психические расстройства не столь выражены в ранних стадиях. Почти у всех пациентов болезнь Хантингтона в итоге проявляется схожими физическими симптомами, но начало заболевания, прогрессирование и степень когнитивных и психических нарушений различаются у отдельных лиц.</p>\r\n<p>Для начала заболевания наиболее характерна хорея — беспорядочные, неконтролируемые движения. Хорея в начале может проявляться в беспокойстве, небольших непроизвольных или незавершённых движениях, нарушении координации и замедлении скачкообразных движений глаз.</p>\r\n<p>В самом начале обычно возникают проблемы из-за физических симптомов, которые выражаются в резких, внезапных и не поддающихся контролю движениях. В других случаях, наоборот, больной двигается слишком замедленно. Возникают нарушения координации движений, речь становится невнятной. Постепенно все функции, требующие мышечного контроля, нарушаются: человек начинает гримасничать, испытывает проблемы с жеванием и глотанием. Из-за быстрого движения глаз происходят нарушения сна. Обычно больной проходит через все стадии физического расстройства, однако влияние болезни на когнитивные функции у всех очень индивидуально. Чаще всего происходит расстройство абстрактного мышления, человек перестаёт быть способным планировать свои действия, следовать правилам, оценивать адекватность своих действий. Постепенно появляются проблемы с памятью, может возникнуть депрессия и паника, эмоциональный дефицит, эгоцентризм, агрессия, навязчивые идеи, проблемы с узнаванием других людей, гиперсексуальность и усиление вредных привычек, таких как алкоголизм или игромания.</p>",
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