Kodi mwana wanu amavutika kuyenda? Tiyeni tiphunzire za Friedreich's Ataxia!

Kodi mwana wanu amanjenjemera pang'ono akamayenda kapena kuthamanga? Kodi munayamba mwamvapo kuti akuvutika kukhala bwino? Kapena ndi zachilendo kumva mantha komanso nkhawa kwambiri mukaona zizindikiro zotere mwa mwana wamng'ono? Lero tikambirana za matenda osowa koma ofunika kwambiri omwe muyenera kudziwa nthawi ngati amenewa. Izi zimatchedwa Friedreich's ataxia, kapena `(FA)` kapena `(FRDA)` mwachidule.

Kodi Friedreich's Ataxia ndi chiyani?

Mwachidule, Friedreich's Ataxia ndi matenda a majini omwe amapatsiridwa kuchokera ku mibadwomibadwo. Izi zimapangitsa kuti mitsempha yathu ya mitsempha iwonongeke pang'onopang'ono, zomwe zimayambitsa mavuto ndi kayendedwe ka thupi lathu. Mwachidule, mphamvu yolamulira minofu yathu imachepa. Ichi ndi chomwe timachitcha ``Ataxia.'' Matendawa amayamba kuipiraipira pakapita nthawi.

Nthawi zambiri, zizindikirozi zimayamba ali aang'ono. Izi zikutanthauza kuti, ali mwana. Koma izi sizimangokhudza mitsempha yokha. Zingakhudzenso malo monga mafupa anu, mtima, ndi kapamba. Koma nkhani yabwino ndi yakuti, sizimakhudza luso lanu loganiza, ndiko kuti, luso lanu la nzeru (Cognitive Functions).

Matenda a Friedreich's ataxia ndi amodzi mwa matenda ofala kwambiri a cholowa, koma ndi matenda osowa kwambiri. Ku United States, amakhudza munthu m'modzi pa anthu 50,000 aliwonse. Padziko lonse lapansi, amakhudza munthu m'modzi pa anthu 40,000 aliwonse. Matendawa adapezeka koyamba ndi kufotokozedwa mu 1863 ndi dokotala dzina lake Nicholas Friedreich. Ichi ndichifukwa chake amatchedwa dzina lake.

Ndizachibadwa kuchita mantha mwana wanu akayamba kuvutika kuyenda kapena akutaya mphamvu zake. Mwina mumadzifunsa kuti, "Kodi izi zitenga nthawi yayitali bwanji? Kodi izi zidzakhudza bwanji moyo wa mwana wanga?" Chinthu chabwino kwambiri choti muchite ndikuwonana ndi dokotala yemwe ndi katswiri pa matenda amenewa. Mwanjira imeneyi, mutha kupeza mayankho a mafunso anu ndikupeza chithandizo chomwe mukufuna paulendowu.

Kodi pali mitundu yosiyanasiyana ya Friedreich's ataxia (FA)?

Inde, matenda a Friedreich's ataxia nthawi zambiri amawonekera munthu asanakwanitse zaka 25. Komabe, pali mitundu ina iwiri ya matenda achilendo. Izi zimayimira pafupifupi 15% ya milandu yonse ya FA:

• Kuchedwa kwa Friedreich's ataxia (LOFA): Mu mtundu uwu, zizindikiro zimawonekera munthu akakwanitsa zaka 25.
• Kuchedwa kwambiri kwa Friedreich's ataxia (VLOFA): Apa, zizindikiro zimayamba munthu akakwanitsa zaka 40.

Mitundu iwiri iyi, `(LOFA)` ndi `(VLOFA)`, ndi yoopsa pang'ono kuposa `(FA)` wamba.

Kodi zizindikiro za vutoli ndi ziti?

Zizindikiro za Friedreich's ataxia nthawi zambiri zimayamba pakati pa zaka 5 ndi 15. Komabe, anthu ena amatha kukumana ndi zizindikiro ali ndi zaka ziwiri, ndipo ena amatha kukumana ndi zaka 50.

Zizindikiro zoyamba kuoneka

Zizindikiro zoyamba za mitsempha zomwe zimawonekera ndi mavuto oimirira, kuyenda, komanso kulinganiza bwino (otchedwa Gait Ataxia). Pakapita nthawi, zizindikirozi zimakula pang'onopang'ono, ndipo zizindikiro zatsopano zimatha kuwonekera.

Zizindikiro zazikulu zokhudzana ndi dongosolo lamanjenje la `(FA)` ndi izi:

• Kufooka kwa minofu.
• Kutaya kulinganiza ndi kugwirizana (Ataxia).
• Kutaya kumva kukhudza (izi zimatchedwa `(Peripheral Neuropathy)`).
• Kufooka kwa ma reflexes (Hyporeflexia).

Mutha kuwona izi apa:

• Kuvuta kuyimirira, kuyenda, ndi kuthamanga.
• Chorea ndi kugwedezeka ndi kunjenjemera kosafunikira kwa miyendo.
• Kutaya kwa kumva komwe kumayambira m'miyendo ndikufalikira m'manja ndi m'mimba.
• Kutopa kosalekeza.
• Polankhula, mawu amakhala osamveka bwino ndipo kulankhula kumakhala kochedwa (Dysarthria).
• Kuvuta kumeza chakudya (Dysphagia).
• Kuuma kwa minofu ndi kumva kuuma kwa minofu.
• Kutaya chidziwitso cha malo a thupi la munthu (Kutaya `(Proprioception)`).
• Kutaya Kumva.
• Kutaya Maso.
• Matenda a Scoliosis ndi/kapena kupunduka kwa mapazi. Mwachitsanzo, mapazi otembenukira mkati, ma arches ataliatali, ndi mapazi afupiafupi (Pes Cavus).

Tangoganizirani, pali mwana wazaka 8 dzina lake Sadun. Kale anali wothamanga bwino komanso wosewera naye. Koma kwa nthawi ndithu, wakhala akupunthwa akamayenda, ngati kuti sangathe kukhala bwino. Ngakhale akamasewera kusukulu, amagwa akathamanga ndi anzake. Poyamba, makolo ake ankaganiza kuti ndi chinthu chaching'ono. Koma atamuonetsa kwa dokotala, anadziwa za `(FA)` iyi.

Mavuto ena omwe angachitike chifukwa cha Friedreich's ataxia (FA)

Pafupifupi 75% ya anthu omwe ali ndi FA amatha kudwala matenda a mtima. Omwe amapezeka kwambiri ndi awa:

Zotsatira pa mtima

• Matenda a Cardiac Autonomic Neuropathy.
• Hypertrophic cardiomyopathy.
• Kusakhazikika kwa kugunda kwa mtima `(Arrhythmia)`.

Kuphatikiza apo, mavuto ena a mtima omwe angachitike chifukwa cha `(FA)` ndi awa:

• Matenda a mtima.
• Kutupa kwa minofu ya mtima (Myocardial Fibrosis).
• Kukulitsa mtima (Cardiomegaly).
• Kulephera kwa Mtima Wodzaza ndi Mitsempha.
• Kugunda kwa mtima mwachangu (Tachycardia).
• Kusokonezeka kwa mtima.
• Mtima Wotseka.

Kuopsa kwa matenda a shuga

FA ikhoza kuwononga maselo a kapamba omwe amapanga insulin. Insulin ndi yofunika kwambiri poletsa kuchuluka kwa shuga m'magazi. Chifukwa chake, ngati palibe insulin yokwanira, kuchuluka kwa shuga m'magazi kumawonjezeka, zomwe zimayambitsa hyperglycemia. Izi zingayambitse matenda a shuga. Pafupifupi 30% ya anthu omwe ali ndi FA amadwala matenda a shuga.

Kodi chifukwa chake ndi chiyani? Kodi ndi zotsatira za majini?

Inde, Friedreich's ataxia ndi matenda a majini okhaokha. Amayambitsidwa ndi kusintha, kapena kusintha kwa majini, mu jini yotchedwa ``FXN''. Jini iyi ili ndi malamulo opangira puloteni yofunika kwambiri m'thupi lathu, ``Frataxin'' .

Frataxin ndi puloteni yomwe imagwira ntchito mu mitochondria.

Frataxin ndi puloteni yomwe imapezeka mu mitochondria , mbali zomwe zimapanga mphamvu m'maselo athu. Ngakhale asayansi sakumvetsabe momwe imagwirira ntchito, apeza kuti frataxin ndi yofunika kwambiri kuti mitochondria igwire bwino ntchito. Kusintha kwa majini komwe kumayambitsa frataxin (FA) kumalepheretsa kwathunthu kupanga puloteni ya frataxin.

Tikakhala opanda frataxin yokwanira, maselo ena a thupi lathu sangapange mphamvu moyenera. Komanso, zinthu zoopsa zimayamba kudziunjikira. Izi zimatchedwa kupsinjika kwa okosijeni . Izi zimawononga maselo athu.

Maselo omwe ali m'malo otsatirawa amakhudzidwa kwambiri ndi `(FA)`:

• Mitsempha ya Peripheral.
• Msana.
• Ubongo, makamaka ubongo.
• Minofu ya mtima.

Iyi ndi njira yopezera cholowa cha Autosomal Recessive.

Friedreich's ataxia imachitika kokha ngati mulandira makope awiri osinthika a jini (FXN), kuchokera kwa amayi ndi abambo anu onse. Madokotala amatcha izi kukhala autosomal recessive inheritance pattern .

Makolo onse awiri a munthu amene ali ndi matendawa nthawi zambiri amakhala ndi kopi imodzi ya jini yosinthika (ndiko kuti, ndi omwe amanyamula ). Koma nthawi zambiri sasonyeza zizindikiro. Tangoganizirani, ngati makolo onse awiri ali ndi kachilomboka, akakhala ndi mwana:

• Pali mwayi wa 25% kuti mwanayo adzakhala ndi `(FA)` (ngati majini onse awiri osinthika atengera cholowa).
• Pali mwayi wa 50% kuti mwanayo akhale ndi kachilomboka (ngati jini imodzi yosinthika yabadwa).
• Pali mwayi wa 25% kuti mwanayo akhale wathanzi popanda kulandira majini aliwonse osinthika.

Kodi mumazindikira bwanji izi molondola? (Kuzindikira)

Choyamba, dokotala wa mwana wanu adzafunsa za zizindikiro zake komanso mbiri ya matenda a m'banja. Kenako adzamuyeza thupi lonse komanso adzamuyeza ubongo.

Pambuyo pake, dokotala angakulimbikitseni mayeso osiyanasiyana.Kuyezetsa majini ndiye mayeso akuluakulu omwe angatsimikizire Friedreich's ataxia. Kuphatikiza apo, mayeso otsatirawa angachitike kuti athandize kuzindikira matendawa ndi/kapena kuyang'ana madera ena a thupi omwe angakhudzidwe ndi (FA):

• MRI kapena CT scan: Izi zitha kujambula zithunzi za ubongo wanu ndi msana wanu. Izi zingathandize dokotala wanu kudziwa matenda ena amitsempha.
• Electromyogram (EMG) ndi Maphunziro Oyendetsera Mitsempha: Mayeso awa amayesa momwe minofu ndi mitsempha yanu ikugwirira ntchito.
• Electrocardiogram (ECG/EKG): Iyi ikuwonetsa momwe magetsi a mtima wanu amagwirira ntchito, kutanthauza momwe kugunda kwa mtima kumayendera.
• Echocardiogram: Iyi ikuwonetsa zithunzi za mayendedwe a mtima wanu.
• Kuyezetsa magazi: Kuyezetsa magazi kwina kungachitike kuti muwone zinthu monga kuchuluka kwa shuga m'magazi ndi kuchuluka kwa vitamini E.

Kodi mankhwala a Friedreich's ataxia (FA) ndi ati?

Iyi ndi nkhani yabwino kwambiri! Mu 2023, bungwe la US Food and Drug Administration (FDA) linavomereza mankhwala oyamba makamaka a Friedreich's ataxia. Amatchedwa Omaveloxolone (SKYCLARYS™) . Angagwiritsidwe ntchito kwa anthu azaka 16 kapena kuposerapo. Kafukufuku wasonyeza kuti mankhwalawa amatha kusintha magwiridwe antchito a mitsempha ndi mkhalidwe wa ``Ataxia'' pamlingo wina. Kafukufuku wina akuchitidwa pa zotsatira za mankhwalawa kwa nthawi yayitali.

Komabe, Omaveloxolone si mankhwala a FA. Kuwonjezera pa mankhwala awa, cholinga chachikulu cha chithandizo ndikuwongolera zizindikiro ndi mavuto a FA ndikukuthandizani kukhala ndi moyo wabwino momwe mungathere. Mankhwala oterewa angaphatikizepo:

• Kuchiza Thupi: Kusunga minofu ikugwira ntchito kwa nthawi yayitali, kukonza mgwirizano, kulinganiza bwino, komanso mphamvu.
• Chithandizo cha Kulankhula: Kuwongolera kulankhula ndi kumeza mwa kuphunzitsanso minofu ya lilime ndi nkhope.
• Ma braces kapena opaleshoni ya mavuto okhudzana ndi mafupa monga kupunduka kwa mapazi ndi scoliosis.
• Ngati muli ndi matenda a mtima, imwani mankhwala.
• Ngati muli ndi matenda a shuga, tengani mankhwala a matendawo.
• Mankhwala ochizira ululu.
• Mankhwala opha tizilombo toyambitsa matenda kuti tipewe kapena kuchiza matenda.
• Zipangizo zothandizira kuyenda, mwachitsanzo nsapato zapadera, ndodo, mipando ya olumala.
• Kuika mtima wina ndi njira yochizira matenda a mtima ochepa, koma ngati pali vuto lalikulu la mtima.

Kuti muthane ndi vuto la FA, nthawi zambiri mungafunike thandizo la gulu la madokotala ochokera m'mafukufuku osiyanasiyana. Gululi likhoza kuphatikizapo:

• Akatswiri a za ubongo.
• Akatswiri a mtima.
• Akatswiri a Zamankhwala ndi Zamoyo.
• Madokotala a Endocrinologists ndi madokotala omwe ali akatswiri mu dongosolo la endocrine.
• Akatswiri a zamaganizo.
• Akatswiri a za kulankhula ndi zilankhulo.
• Akatswiri a zamaganizo pantchito.
• Madokotala a mafupa.
• Akatswiri a zamaganizo.

Matenda a Friedreich's ataxia amakhudza aliyense mosiyana ndipo amakula mofulumira. Gulu lachipatala la mwana wanu lidzapanga dongosolo la chithandizo lomwe limagwirizana ndi zizindikiro za mwana wanu ndipo likhoza kusinthidwa akamakula.

Kodi pali njira yopewera izi?

Popeza Friedreich's ataxia imayamba chifukwa cha kusintha kwa majini, palibe chomwe mungachite kuti mupewe izi. Komabe, ngati mukukonzekera kukhala ndi ana, mutha kulankhula ndi dokotala wanu kapena mlangizi wa majini okhudza kuyezetsa kuti mudziwe za chiopsezo chanu chokhala ndi mwana wokhala ndi vuto la majini monga Friedreich's ataxia.

Kodi munthu amene ali ndi matenda a Friedreich’s ataxia (FA) angayembekezere chiyani?

Chofunika kwambiri kukumbukira ndichakuti si aliyense amene ali ndi Friedreich's ataxia amene amakhudzidwa mofanana. Palibe amene angakuuzeni zenizeni zomwe zidzachitike. Chinthu chabwino kwambiri chomwe mungachite kuti mukonzekere tsogolo ndikulankhula ndi akatswiri omwe amafufuza ndikuchiza Friedreich's ataxia.

Za nthawi ya moyo

Popeza Friedreich's ataxia ndi matenda omwe amakula pakapita nthawi, nthawi yoyembekezera moyo wa anthu omwe ali ndi `(FA)` ikhoza kukhala yochepa pang'ono kuposa ya anthu onse. Chifukwa chachikulu cha imfa mwa anthu omwe ali ndi `(FA)` ndi matenda otchedwa `Hypertrophic Cardiomyopathy`.

Koma FA siimakhudza aliyense mofanana. Anthu ambiri omwe ali ndi FA amakhala ndi moyo wa zaka zosachepera 30. Ena amakhala ndi moyo wa zaka 60 kapena kupitirira apo.

Kodi muyenera kufunsa upangiri wa dokotala liti?

Ngati inu kapena mwana wanu ali ndi vuto la Friedreich's ataxia, muyenera kupita ku gulu lanu lachipatala nthawi zonse kuti mukalandire chithandizo komanso kuti muwone zizindikiro zake.

Ndizachibadwa kumva kutopa kwambiri mukazindikira kuti mwana wanu ali ndi Friedreich's Ataxia (FA). Koma gulu lanu lachipatala lidzapanga dongosolo la chithandizo lomwe likugwirizana ndi zizindikiro za mwana wanu. Chofunika kwambiri ndikupatsa mwana wanu chikondi ndi chithandizo chomwe amafunikira pa moyo wake wonse, komanso kudziwa zizindikiro zatsopano zomwe zingabuke. Musaiwale kudzisamalira nokha. Ngati kuli kofunikira, lowani nawo gulu lothandizira, kapena funsani thandizo kwa mlangizi ngati mukumva kutopa kwambiri.

Kumbukirani mwachidule (Uthenga Wopita Nawo Kunyumba)

Friedreich's Ataxia (FA) ndi matenda osowa kwambiri, obadwa nawo m'majini omwe amakhudza kwambiri dongosolo la mitsempha, zomwe zimayambitsa mavuto oyenda (makamaka ataxia - kutayika kwa mgwirizano).

• Chifukwa: Kusintha kwa majini otchedwa ``(FXN)`` kumabweretsa kuchepa kwa puloteni ya ``Frataxin```.
• Makhalidwe:Kuvutika kuyenda, kulephera kukhazikika bwino, kufooka kwa minofu, kuvutika kulankhula, matenda a mtima, ndi matenda a shuga zingachitike.
• Kuzindikira: Makamaka poyesa majini.
• Chithandizo: Kusamalira zizindikiro, chithandizo cha thupi, chithandizo cha kulankhula, ndi mankhwala atsopano ovomerezeka a Omaveloxolone.
• Chofunika: Ndikofunikira kuzindikira matendawa msanga, kufunafuna thandizo la akatswiri azachipatala, komanso kukhala ndi chikondi ndi chithandizo cha achibale. Ndikofunikira kuti musachite mantha, koma kuchitapo kanthu pa mfundo zolondola komanso upangiri wachipatala.

Friedreich 's Ataxia, FA, matenda a majini, dongosolo lamanjenje, matenda oyenda, ataxia