Okuqukethwe
Izifo ezingavamile nezintandane: kuyini?
Isifo esingavamile yisifo esithinta umuntu oyedwa kwabangu-2000, okungukuthi eFrance abantu abangaphansi kuka-30 ngesifo esinikeziwe futhi sebebonke, abantu abayizigidi ezingu-000 kuya kwezi-3. Inqwaba yalezi zifo kuthiwa “izintandane” ngoba azihlomuli emithini nasekunakekelweni okwanele. Kukhona intshisekelo encane ocwaningweni ngoba alunikezi indawo yokuthengisa ebalulekile. Futhi unyaka ngamunye, i-Telethon iqoqa izimali zokusiza ukuthuthukisa ucwaningo ngezifo ze-neuromuscular.
Ukuze uthole ulwazi ngezifo zezintandane: maladies-orphelines.fr
I-cystic fibrosis
I-Cystic fibrosis, noma i-cystic fibrosis ye-pancreas, isifo esingavamile esitholakala ngofuzo. Ibangela ikakhulukazi izinkinga zokuphefumula nezokugaya ukudla ngoba uketshezi (noma amafinyila), akhona ikakhulukazi ku-bronchi, amanyikwe, isibindi, amathumbu nezitho zangasese, aminyene ngendlela engavamile. Abantu abangu-6 (izingane kanye nabantu abadala) bahlushwa i-cystic fibrosis eFrance. Kusukela ngo-000, kuye kwenziwa ukuhlolwa kuzo zonke izingane ezisanda kuzalwa lapho zizalwa. Ivumela, ngokuxilongwa kusenesikhathi, ukunakekelwa okusheshayo nokuvumelana nezimo kwezingane eziphethwe i-cystic fibrosis.
Ukuze uthole olunye ulwazi: Nqoba i-cystic fibrosis (http://www.vaincrelamuco.org/)
I-Duchenne muscular dystrophy
Isifo semisipha esivame kakhulu futhi esaziwa kakhulu, ngenxa yokungabikho noma ukuguqulwa kwephrotheni: i-dystrophin. Kuyisifo esitholakala ngofuzo esixhumene nocansi. Kubonakala ngokulahlekelwa okuqhubekayo kwamandla emisipha kanye nokuhluleka kokuphefumula noma kwenhliziyo. Isakazwa ngabesifazane, kodwa ihlasela abafana kuphela. Cishe iziguli ezi-5 eFrance.
Ukuze uthole okwengeziwe: Inhlangano yaseFrance ngokumelene ne-myopathies (http://www.afm-france.org/)
I-Leukodystrophy
Leli gama eliyinkimbinkimbi lichaza iqembu lezifo zofuzo zezintandane. Babhubhisa isimiso sezinzwa esimaphakathi (ubuchopho nomgogodla) wezingane kanye nabantu abadala. Zithinta i-myelin, into emhlophe emboza imizwa njengomgodla kagesi. Ku-leukodystrophies, i-myelin ayisaqinisekisi ukuhanjiswa okufanele kwemiyalezo yezinzwa. Ayakheki, iwohloka noma iningi kakhulu. Icala ngalinye lihlukile kodwa imiphumela ihlale ibucayi kakhulu. Lesi sifo sithinta abantu abangaphansi kuka-500 eFrance.
Ukuze uthole okwengeziwe: inhlangano yaseYurophu ngokumelene ne-leukodystrophies, ELA (https://ela-asso.com/)
I-Amyotrophic lateral sclerosis noma isifo sikaCharcot
I-ALS ukulimala kwama-motor neuron atholakala ophondweni lwangaphambili lomgogodla kanye ne-motor nuclei yezinzwa zokugcina ze-cranial. Umsuka walesi simo esibulalayo nesingelapheki awaziwa. Ukufa kwenzeka ngokwesilinganiso phakathi neminyaka emibili kuya kwemihlanu yokuxilongwa futhi kubangelwa, ezikhathini eziningi, ukuphazamiseka kokuphefumula, okubhebhethekiswa ukutheleleka kwesibili kwe-bronchi. Cishe iziguli eziyisi-8 zinaso.
Ukuze uthole olunye ulwazi: I-Brain and Spinal Cord Institute (ICM) (http://icm-institute.org/fr)
Isifo seMarfan
Kuyisifo sofuzo esingajwayelekile, lapho kuguqulwa khona izicubu ezixhumeneyo (lesi yizicubu eziqinisekisa ukuhlangana nokusekelwa kwezitho ezihlukene emzimbeni). Izitho ezihluke kakhulu (amehlo, inhliziyo, amalunga, amathambo, imisipha, amaphaphu) zingathinteka. I-Marfan syndrome ithinta abafana namantombazane.
Kulinganiselwa ukuthi babalelwa ku-20 abantu abahlaselwe yilesi sifo eFrance.
Ukuze uthole okwengeziwe: inhlangano Vivre Marfan (http://vivrerfan.org)
Isifo se-anemia yesifo
I-Sickle cell anemia noma "i-sickle cell anemia" yisifo sofuzo esitholakala ngofuzo esibonakala ngokushintshwa kwe-hemoglobin, iphrotheni eqinisekisa ukuthuthwa komoyampilo egazini. Lesi sifo sizibonakalisa kubafana kanye nasemantombazaneni, uma bobabili abazali bengabathumeli. Kunamacala ayi-15 eFrance.
Ukuze uthole okwengeziwe: I-Association for Information and Prevention of Sickle Cell Disease (http://www.apipd.fr/)
I-Osteogenesis imperfecta noma isifo sethambo lengilazi
Kuyisifo esingavamile sofuzo, esibonakala ngobuthakathaka obukhulu bamathambo. Ngakho, amathambo aphuka kalula, ngisho nangemva kokuhlukumezeka okuhle (ukuwa ukusuka ekuphakameni kwakhe, ukushelela ...). Ibonakala ngeminyaka eyahlukahlukene, ngezinye izikhathi ebuntwaneni, ngezinye izikhathi lapho isikhulile. Kuthinta abafana namantombazane. EFrance, abantu abangu-3 kuya ku-000 bane-osteogenesis imperfecta.
Ukuze uthole okwengeziwe: inhlangano ye-osteogenesis imperfecta (http://www.aoi.asso.fr/)
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Uyafuna ukukhuluma ngakho phakathi kwabazali? Ukunikeza umbono wakho, ukuletha ubufakazi bakho? Sihlangana ku-https://forum.parents.fr.
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