Hälsa och Sjukdom - Genetiska störningar
Här kommer du att lära dig några engelska ord relaterade till genetiska störningar såsom "albinism", "hemofili" och "dystrofi".
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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
Marfans syndrom, Marfans sjukdom
a genetic disorder causing the growth of tumors on nerves throughout the body, with varying symptoms and severity
neurofibromatos
Pågående forskning syftar till att förbättra potentiella terapier för neurofibromatos.
genetic disorder with characteristic facial features, short stature, developmental delays, and heart defects caused by mutations affecting cell signaling proteins
Noonans syndrom, Noonans genetiska störning
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
Prader-Willis syndrom, Prader-Willis sjukdom
a genetic disorder in girls causing developmental regression, communication impairments, and neurological issues due to MECP2 gene mutations
Retts syndrom, Retts sjukdom
a rare genetic disorder characterized by the progressive deterioration of the nervous system, typically leading to early childhood death
Tay-Sachs sjukdom, GM2-gangliosidos
Prenatala tester kan genomföras för att identifiera Tay-Sachs sjukdom hos den utvecklande fostret.
a genetic blood disorder characterized by reduced production of hemoglobin, leading to anemia, and it can range from mild to severe
talassemi, medelhavsanemi
Genetisk rådgivning rekommenderas för dem med en familjehistoria av thalassemi.
a neurological disorder characterized by repetitive, involuntary movements and vocalizations called tics
Tourettes syndrom, Tourettes störning
Hantering av Tourettes syndrom kan inkludera beteendeterapi, läkemedel eller en kombination av båda.
a genetic condition characterized by a lack of pigmentation in the skin, hair, and eyes, resulting in a significant reduction or absence of melanin
albinism
Albinism är inte kopplat till etnicitet och kan förekomma hos individer av vilken ras eller etnisk bakgrund som helst.
a rare genetic disorder with developmental delays, intellectual disability, speech issues, and seizures, caused by gene mutations on chromosome 15
Angelmans syndrom, Angelmans sjukdom
a genetic disorder with craniofacial abnormalities, fused fingers or toes, and skeletal issues due to FGFR2 gene mutations
Aperts syndrom, Aperts sjukdom
a group of inherited neurological disorders affecting the peripheral nerves, leading to muscle weakness and atrophy, particularly in the feet and hands
Charcot-Marie-Tooths sjukdom, hereditär sensorimotorisk neuropati
Charcot-Marie-Tooths sjukdom kan påverka de sensoriska nerverna, vilket leder till förlust av känsel i extremiteterna.
a genetic disorder causing hormonal imbalances and abnormal development of secondary sexual characteristics due to impaired cortisol production by the adrenal glands
medfödd binjurehyperplasi, kongenital binjurehyperplasi
a genetic disorder causing the production of thick and sticky mucus, affecting the respiratory and digestive systems and leading to various complications
cystisk fibros, mukoviscidos
Framsteg inom forskningen har lett till utvecklingen av riktade terapier som adresserar specifika genetiska mutationer vid cystisk fibros.
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
Downs syndrom, trisomi 21
Acceptans är avgörande för att främja en stödjande miljö för personer med Downs syndrom.
a group of connective tissue disorders causing joint hypermobility, skin that bruises easily, and other symptoms due to abnormal collagen production
Ehlers-Danlos syndrom, Ehlers-Danlos sjukdom
a rare genetic disorder causing the build-up of a fatty substance in organs, leading to symptoms like pain, skin lesions, and organ damage
Fabrys sjukdom, Fabrys störning
a genetic disorder causing intellectual disability, developmental delays, and other symptoms due to a gene mutation that affects normal brain function
bräckligt X-syndrom, syndrom av det bräckliga X-kromosomen
a mostly inherited genetic disorder in which the blood does not clot properly, leading to excessive or spontaneous bleeding
hemofili, ärftlig blödningssjukdom
a genetic disorder characterized by excessive absorption and accumulation of iron in the body, leading to potential organ damage
hemokromatos
Genetisk rådgivning rekommenderas för familjemedlemmar till personer med hemokromatos.
a genetic condition in males where there is an extra X chromosome, leading to developmental and hormonal differences
Klinefelters syndrom
Fertilitetsbehandlingar kan utforskas för individer med Klinefelters syndrom.
a genetic condition affecting females, where one of the X chromosomes is partially or completely missing, leading to various developmental and medical challenges
Turners syndrom
Utbildnings- och psykosocialt stöd är avgörande för individer med Turners syndrom.
a rare genetic disorder characterized by distinctive facial features, developmental delays, and a unique cognitive profile, including strong verbal abilities and sociable personality traits
Williams syndrom, Williams sjukdom
a hereditary neurodegenerative disorder characterized by progressive motor dysfunction, cognitive decline, and psychiatric symptoms
Huntingtons sjukdom, Huntingtons chorea
Genetisk rådgivning rekommenderas för individer med en familjehistoria av Huntingtons sjukdom.
a genetic blood disorder where red blood cells assume an abnormal, crescent shape, leading to various complications
sicklecellanemi, sicklecellsjukdom
Insatser inom folkhälsan fokuserar på att förbättra tillgången till omfattande vård för individer med sicklecellanemi.
a category of disorders characterized by the progressive degeneration or weakening of tissues, particularly muscles
dystrofi
Barnet hade svårt att röra sig på grund av myoton dystrofi.
a bleeding disorder due to a deficiency or dysfunction of a blood clotting protein, leading to increased bleeding tendency
von Willebrands sjukdom, brist på von Willebrandfaktor
Tidig diagnos av von Willebrands sjukdom är avgörande för att hantera blödningsrisker.
