Resumo Doneça de Huntington

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Doença de Huntington
Beatriz Vidal, Bruna Zomer, Fernanda Simionato, Julia Furtado e Yohanna Nascimento
Doença de Huntington
Beatriz Vidal, Bruna Zomer, Fernanda Simionato, Julia furtado e Yohanna Nascimento
Conceitos gerais
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Afecção heredodegenerativa (herdada geneticamente e progressiva) do sistema nervoso central, cujos sintomas são causados pela perda marcante de células dos gânglios da base, afetando as capacidades:
Motoras: agilidade, ritmo do caminhar, coordenação motora
Cognitivas: pensamento, julgamento, memória
Psiquiátricas: humor, equilíbrio emocional
Originada da palavra grega para “dança”, coreia refere-se aos movimentos involuntários que estão entre os sintomas comuns da doença
Pessoas com história de DH na família em 1º grau têm 50% de chances de herdar o gene alterado e desenvolverão a doença em algum momento de sua vida, então devem receber aconselhamento e fazer exames genéticos. O aconselhamento deve ser oferecido antes dos exames, pois as ramificações da doença são muito profundas.
Como foi descoberta
2017
Pesquisadores do University College de Londres anunciaram que a primeira fase de testes de um remédio capaz de conter a evolução da doença de Huntington teve resultados promissores
1994
Existe um teste genético disponível para saber se existe ou não alteração no gene
1972
Recebeu o nome do Dr. George Huntington, que publicou uma descrição do que ele chamou “coréia hereditária”
Após uma busca de dez anos, os cientistas encontraram o gene que causa a DH
1993
O neurocirurgião Claudio Corrêa afirma que a cura para a doença só será possível com tratamentos que interfiram na engenharia genética. “O avanço que esperamos conquistar futuramente é determinar, enquanto o feto se desenvolve, se ele tem a mutação no gene e poder alterá-lo antes mesmo de o bebê nascer”
2012
Causas
O produto do gene, uma proteína denominada huntingtina, apresenta um alongamento expandido de resíduos de poliglutamina, que acumulam-se dentro dos neurônios e levam à doença por um mecanismo desconhecido.
Quanto mais repetições CAG, mais precocemente a doença inicia e mais grave é sua expressão (fenótipo). 
O número de repetições pode aumentar em gerações sucessivas e, ao longo do tempo, levar a fenótipos cada vez mais graves na árvore familiar (antecipação).
DH
A doença de Huntington é resultado de uma mutação no gene huntingtin (HTT) (cromossoma 4), causando repetição anormal da sequência CAG do DNA, que codifica o aminoácido glutamina. 
Disfunção motora
Disfunção motora
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Epidemiologia
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A DH atinge ambos os sexos e todas as etnias
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Os primeiros sintomas geralmente aparecem lenta e gradualmente entre os 30 e 50 anos, podendo acometer crianças e idosos.
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Epidemiologia
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Sinais e sintomas
Incapacidade de mover deliberadamente os olhos rápido o suficiente e sem piscar ou estender a cabeça (apraxia oculomotora) 
Coreia é a primeira manifestação e pode persistir até os estágios mais avançados. 
Incapacidade de manter um ato motor (impersistência motora), como protrusão da língua ou agarramento.
Com a evolução do quadro, os movimentos voluntários do paciente tornam-se mais lentos e a intensidade dos movimentos involuntários (reflexos mioclônicos e pseudo-tiques) aumenta, afetando cabeça, tronco e membros.
Sinais e sintomas
A doença evolui, sendo comum a impossibilidade da marcha, dificuldade para articular palavras (disartria) e deglutição (disfagia). 
A capacidade de concentração e a memória de curto prazo diminuem.
O raciocínio pode ser afetado, e a maior parte dos pacientes sofre perdas cognitivas
Demência ou anormalidades psiquiátricas (depressão, apatia, irritabilidade, mudança de personalidade, anedonia, agressividade, comportamento antissocial, doença bipolar completa ou transtorno esquizofreniforme) aparecem anterior ou simultaneamente ao distúrbio do movimento e podem preceder em anos as disfunções motoras.
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