Saúde e Doença - Distúrbios genéticos
Aqui você aprenderá algumas palavras em inglês relacionadas a distúrbios genéticos como "albinismo", "hemofilia" e "distrofia".
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a genetic disorder characterized by connective tissue abnormalities, leading to various physical manifestations including tall stature, long limbs, joint hypermobility, and cardiovascular issues
síndrome de Marfan, doença de Marfan
a genetic disorder causing the growth of tumors on nerves throughout the body, with varying symptoms and severity
neurofibromatose
Aconselhamento genético é recomendado para indivíduos com histórico familiar de neurofibromatose.
genetic disorder with characteristic facial features, short stature, developmental delays, and heart defects caused by mutations affecting cell signaling proteins
síndrome de Noonan, distúrbio genético de Noonan
a genetic disorder with symptoms like insatiable appetite, obesity, intellectual disability, and developmental delays caused by gene deletion or loss of function on chromosome 15
síndrome de Prader-Willi, doença de Prader-Willi
a genetic disorder in girls causing developmental regression, communication impairments, and neurological issues due to MECP2 gene mutations
síndrome de Rett, doença de Rett
a rare genetic disorder characterized by the progressive deterioration of the nervous system, typically leading to early childhood death
a doença de Tay-Sachs, a gangliosidose GM2
O aconselhamento genético é crucial em populações de alto risco com histórico de doença de Tay-Sachs.
a genetic blood disorder characterized by reduced production of hemoglobin, leading to anemia, and it can range from mild to severe
talassemia, anemia mediterrânea
As campanhas de conscientização focam na educação e detecção precoce da talassemia em populações de alto risco.
a neurological disorder characterized by repetitive, involuntary movements and vocalizations called tics
síndrome de Tourette, transtorno de Tourette
Muitos indivíduos com síndrome de Tourette levam vidas bem-sucedidas, e os sintomas podem melhorar com a idade.
a genetic condition characterized by a lack of pigmentation in the skin, hair, and eyes, resulting in a significant reduction or absence of melanin
albinismo
Albinismo é causado por mutações genéticas herdadas que afetam a produção de melanina.
a rare genetic disorder with developmental delays, intellectual disability, speech issues, and seizures, caused by gene mutations on chromosome 15
síndrome de Angelman, doença de Angelman
a genetic disorder with craniofacial abnormalities, fused fingers or toes, and skeletal issues due to FGFR2 gene mutations
síndrome de Apert, doença de Apert
a group of inherited neurological disorders affecting the peripheral nerves, leading to muscle weakness and atrophy, particularly in the feet and hands
a doença de Charcot-Marie-Tooth, a neuropatia sensitivo-motora hereditária
Não há cura para a doença de Charcot-Marie-Tooth, mas a fisioterapia ajuda a controlar os sintomas.
a genetic disorder causing hormonal imbalances and abnormal development of secondary sexual characteristics due to impaired cortisol production by the adrenal glands
hiperplasia adrenal congênita, hiperplasia congênita da suprarrenal
a genetic disorder causing the production of thick and sticky mucus, affecting the respiratory and digestive systems and leading to various complications
fibrose cística, mucoviscidose
Indivíduos com fibrose cística frequentemente experimentam infecções pulmonares crônicas devido à dificuldade em limpar o muco das vias aéreas.
a genetic condition caused by the presence of an extra copy of chromosome 21, leading to intellectual disabilities, distinct facial features, and potential health issues
síndrome de Down, trissomia 21
A síndrome de Down não tem cura, mas cuidados de apoio e intervenções educacionais podem melhorar a qualidade de vida.
a group of connective tissue disorders causing joint hypermobility, skin that bruises easily, and other symptoms due to abnormal collagen production
síndrome de Ehlers-Danlos, doença de Ehlers-Danlos
a rare genetic disorder causing the build-up of a fatty substance in organs, leading to symptoms like pain, skin lesions, and organ damage
doença de Fabry, transtorno de Fabry
a genetic disorder causing intellectual disability, developmental delays, and other symptoms due to a gene mutation that affects normal brain function
síndrome do X frágil, síndrome do cromossomo X frágil
a mostly inherited genetic disorder in which the blood does not clot properly, leading to excessive or spontaneous bleeding
hemofilia, transtorno hemorrágico hereditário
a genetic disorder characterized by excessive absorption and accumulation of iron in the body, leading to potential organ damage
hemocromatose
A detecção precoce e a intervenção são cruciais para prevenir complicações associadas à hemocromatose.
a genetic condition in males where there is an extra X chromosome, leading to developmental and hormonal differences
síndrome de Klinefelter
O aumento da consciência sobre a síndrome de Klinefelter auxilia na detecção precoce e intervenção.
a genetic condition affecting females, where one of the X chromosomes is partially or completely missing, leading to various developmental and medical challenges
síndrome de Turner
A síndrome de Turner pode estar associada a vários problemas de saúde, incluindo anomalias cardíacas e renais.
a rare genetic disorder characterized by distinctive facial features, developmental delays, and a unique cognitive profile, including strong verbal abilities and sociable personality traits
síndrome de Williams, doença de Williams
a hereditary neurodegenerative disorder characterized by progressive motor dysfunction, cognitive decline, and psychiatric symptoms
a doença de Huntington, a coreia de Huntington
Os esforços de pesquisa visam desenvolver terapias potenciais para a doença de Huntington.
a genetic blood disorder where red blood cells assume an abnormal, crescent shape, leading to various complications
anemia falciforme, doença falciforme
A anemia falciforme é mais prevalente em indivíduos de ascendência africana, mediterrânea e do Oriente Médio.
a category of disorders characterized by the progressive degeneration or weakening of tissues, particularly muscles
distrofia
A degeneração nervosa levou ao entorpecimento na distrofia neurotrófica.
a bleeding disorder due to a deficiency or dysfunction of a blood clotting protein, leading to increased bleeding tendency
doença de von Willebrand, deficiência do fator von Willebrand
A doença de von Willebrand geralmente é hereditária e pode variar em gravidade.
