Qonda ukuthi yini i-Achondroplasia

-Delile

• Izinguquko ezinkulu ezihambisana ne-achondroplasia
• Izimbangela ze-Achondroplasia
• Ukuxilongwa kwe-Achondroplasia
• Ukwelashwa kwe-Achondroplasia
• I-Physiotherapy ye-Achondroplasia

I-Achondroplasia uhlobo lobuncane, olubangelwa ukuguqulwa kwezakhi zofuzo futhi lubangele ukuthi umuntu abe nesiqu esiphansi kunokujwayelekile, ephelezelwa yimilenze nobukhulu obungalingani, nemilenze ye-arched. Ngaphezu kwalokho, abantu abadala abanale nkinga yezofuzo nabo banezandla ezincane, ezinkulu ezineminwe emifushane, ukwanda ngosayizi wekhanda, izici ezithile zobuso ezinebunzi elivelele nesifunda esiphakathi kwamehlo acijile nobunzima bokufinyelela izingalo kahle.

I-Achondroplasia ingumphumela wokungakhuli ngokwanele kwamathambo amade futhi iwuhlobo lobuncane obudala abantu abancane kunabo bonke emhlabeni, futhi lungaholela abantu abadala ukukala amasentimitha angama-60 ukuphakama.

Izinguquko ezinkulu ezihambisana ne-achondroplasia

Izinguquko ezinkulu nezinkinga abantu ababhekene nazo ne-Achondroplasia ababhekene nazo yilezi:

• Ukulinganiselwa ngokomzimba okuhambisana nokukhubazeka kwamathambo nokuphakama, njengoba izindawo zomphakathi zivame ukuguqulwa futhi ukufinyeleleka kuvinjelwe;
• Izinkinga zokuphefumula njengokuphefumula kokulala nokuvinjelwa komoya;
• IHydrocephalus, ngoba ugebhezi luncane okuholela ekuqongeleleni okungavamile ketshezi ngaphakathi kogebhezi, okudala ukuvuvukala nokukhuphuka kwengcindezi;
• Ukukhuluphala ngokweqile okungaholela ezinkingeni ezihlangene futhi kwandise amathuba okuba nezinkinga zenhliziyo;
• Inkinga yamazinyo ngoba i-arch yamazinyo incane kunokujwayelekile, kukhona nokungahambi kahle nokugqagqana kwamazinyo;
• Izinkinga zokungeneliseki nezenhlalo zingathinta abantu abanalesi sifo, ngoba bangazizwa bengenelisekile ngokubukeka kwabo, okuholela emqondweni ongeyena wokululazeka kanye nenkinga yezenhlalo.

Ngaphandle kokubangela izinkinga ezithile zomzimba nokulinganiselwa, i-Achondroplasia ingukushintsha kwezakhi zofuzo okungathinti ubuhlakani.

Izimbangela ze-Achondroplasia

I-Achondroplasia ibangelwa ukuguqulwa kwezakhi zofuzo ezihlobene nokukhula kwethambo, okuholela ekukhuleni okungavamile. Lolu shintsho lungenzeka lodwa emndenini, noma lungadluliswa lusuka kubazali luye ezinganeni ngendlela yamafa ezakhi zofuzo. Ngakho-ke, ubaba noma umama one-achondroplasia unethuba cishe lama-50% lokuba nengane enesimo esifanayo.

Ukuxilongwa kwe-Achondroplasia

I-Achondroplasia ingatholwa lapho owesifazane ekhulelwe, ekuqaleni kwenyanga yesi-6 ekhulelwe, ngokusebenzisa i-ultrasound yangaphambi kokubeletha noma i-ultrasound, njengoba kuncipha usayizi nokufinyezwa kwamathambo. noma ngama-radiographs ajwayelekile wezitho zomntwana.

Kodwa-ke, kungahle kube nezimo lapho lesi sifo sitholakala kuphela ngemuva kokuzalwa kwengane, ngokusebenzisa ama-radiographs ajwayelekile emilenzeni yengane, njengoba le nkinga inganakwa ngabazali nodokotela bezingane, ngoba izingane ezisanda kuzalwa zivamise ukuba nezitho zomzimba ezifushane maqondana nesiqu .

Ngaphezu kwalokho, lapho i-ultrasound noma ama-x-ray emilenzeni yengane enganele ukuqinisekisa ukutholakala kwalesi sifo, kungenzeka ukwenza ukuhlolwa kofuzo, okukhomba ukuthi ngabe lukhona yini ushintsho kuhlobo olubangela lolu hlobo ubufushane.

Ukwelashwa kwe-Achondroplasia

Alukho umuthi wokwelapha i-achondroplasia, kepha okunye ukwelashwa okufana ne-physiotherapy ukulungisa ukuma nokuqinisa imisipha, ukuzivocavoca umzimba njalo nokulandelela ukuhlanganiswa komphakathi kungakhonjiswa ngudokotela wamathambo ukwenza ngcono impilo.

Izingane ezinale nkinga yezofuzo kufanele zibhekwe kusukela ekuzalweni bese ukulandelelwa kufanele kunwebe ezimpilweni zabo zonke, ukuze isimo sempilo yabo sihlolwe njalo.

Ngaphezu kwalokho, abesifazane abane-achondroplasia abahlose ukukhulelwa bangaba nengozi enkulu yezinkinga ngesikhathi sokukhulelwa, njengoba kunesikhala esincane esiswini somntwana, okwandisa amathuba okuthi umntwana azalwe ngaphambi kwesikhathi.

I-Physiotherapy ye-Achondroplasia

Umsebenzi wokwelashwa ngokomzimba ku-achondroplasia akukhona ukwelapha lesi sifo, kepha ukuthuthukisa ikhwalithi yempilo yomuntu futhi lokhu kusiza ekwelapheni i-hypotonia, ukukhuthaza ukukhula kwengqondo, ukunciphisa ubuhlungu nokungahambi kahle okubangelwa ukukhubazeka kwesifo nokusiza lowo muntu ukuthi enze imisebenzi yakhe yansuku zonke ngendlela efanele, ngaphandle kwesidingo sosizo oluvela kwabanye.

Amaseshini e-Physiotherapy abanjwa nsuku zonke noma okungenani kabili ngeviki, uma nje kudingeka ukuze kuthuthukiswe izinga lempilo futhi lokhu kungenziwa ngawodwana noma ngamaqembu.

Ezikhathini ze-physiotherapy, i-physiotherapist kumele isebenzise izindlela zokunciphisa izinhlungu, ukwenza lula ukunyakaza, ukuma okulungile, ukuqinisa imisipha, ukuvuselela ubuchopho nokwenza izivivinyo ezihlangabezana nezidingo zomuntu ngamunye.