Kodi minofu yanu ya nkhope ndi ya mapewa ndi yofooka? Tiyeni tikambirane za FSHD (Facioscapulohumeral Muscular Dystrophy)!

Kodi nthawi zina mumamva ngati minofu ya pankhope panu, mapewa, kapena manja anu ndi yofooka pang'ono? Mwina mumavutika kumwetulira kapena kuimba mluzu. Ngati muli ndi zizindikiro izi, zitha kukhala chifukwa cha kufooka kwa minofu komwe kumatchedwa FSHD. Tiyeni tikambirane izi mwatsatanetsatane, mwachidule.

Kodi FSHD ndi chiyani?

Mwachidule, FSHD ndi matenda omwe amachititsa kuti minofu ifooke pang'onopang'ono ndikuchepa. Ndi matenda a gulu lalikulu la matenda otchedwa ``Muscular Dystrophy (MD)``. Nthawi zambiri amayamba m'minofu ya nkhope yanu, mapewa, ndi manja apamwamba. Koma pakapita nthawi, amatha kukhudza minofu iliyonse m'thupi lanu. Ndi matenda obadwa nawo. Ngakhale anthu ena angayambe kukumana ndi zizindikiro ali aang'ono, zizindikiro nthawi zambiri zimayamba kuonekera ali achinyamata, nthawi zambiri pakati pa zaka 15, 20, ndi 30. Musadandaule, palibe mankhwala a izi pakadali pano. Komabe, pali mankhwala omwe angakuthandizeni kuthana ndi zizindikiro zanu ndikukhala moyo wabwinobwino.

Kodi pali mitundu ya FSHD?

Pali mitundu iwiri ikuluikulu ya FSHD. Zizindikiro zake zimafanana pa zonsezi, koma chomwe chimayambitsa matendawa n'chosiyana pang'ono.

Mtundu wa `FSHD1`

Izi ndi zomwe zimachitika pa milandu 95 peresenti. Izi zimachitika pamene jini yomwe nthawi zambiri sigwira ntchito m'maselo a thupi lathu imayamba kugwira ntchito mwadzidzidzi. Mapuloteni opangidwa ndi jini yatsopanoyi amawononga maselo a minofu. Tangoganizirani, izi zili ngati kudzutsa munthu amene akugona ndikumupatsa ntchito ndikumupangitsa kukhala wamantha.

Mtundu wa `FSHD2`

Magawo asanu otsala (5%) ndi a mtundu uwu. Monga `FSHD1`, panonso, mapuloteni ochokera ku jini yogwira ntchito amawononga minofu. Komabe, `FSHD2` imayamba chifukwa cha kusintha kwa majini kapena kusintha kwa jini ina. Kusintha kwa majini kumeneku kumayatsa jini yomwe iyenera kukhala yosagwira ntchito. Kunena zoona, kuli ngati `switch` yomwe imalamulira kusweka kwa majini.

Kodi matenda amenewa otchedwa FSHD ndi ofala?

Ofufuza amakhulupirira kuti matendawa amakhudza anthu pakati pa anayi (4) ndi khumi (10) mwa anthu 100,000 aliwonse . Izi zikutanthauza kuti ndi osowa pang'ono, koma n'zotheka kuti odwalawa amapezekanso ku Sri Lanka.

Kodi zizindikiro za FSHD ndi ziti?

Dzina lakuti FSHD limachokera ku mawu achilatini ndi azachipatala. Izi zikutanthauza kuti, malinga ndi ziwalo za thupi kumene zizindikirozi zimayamba kuwonekera. Tiyeni tiwone zomwe zili.

• `Nkhope`: Izi zikutanthauza nkhope . Anthu omwe ali ndi FSHD amavutika kupukusa milomo yawo ndikumwa madzi kudzera mu udzu. Nthawi zina amagona maso awo atatseguka pang'ono. Izi zili choncho chifukwa minofu yomwe imawatseka kwathunthu singathe kuwatseka. Anthu ena angamve ngati mbali imodzi ya nkhope yawo sikugwira ntchito bwino ngakhale akumwetulira.
• `Scapulo`: Izi zikutanthauza tsamba la phewa.FSHD imapangitsa kuti minofu ya mapewa anu ifooke. Mukakweza mapewa anu, mapewa anu amatuluka kumbuyo ndi mmwamba kupita kukhosi kwanu, ngati mapiko . Madokotala amatcha izi kuti "scapular winging." Izi zingapangitse kuti zikhale zovuta kukweza manja anu kapena kunyamula zinthu zolemera.
• Humeral: Izi zikutanthauza mkono wapamwamba. Ndiko kuti, fupa lomwe limayenda kuchokera paphewa kupita ku chigongono. Ngati muli ndi FSHD, minofu ya mkono wanu wakutsogolo (biceps) ndi mkono wakumbuyo (triceps) imakhala yofooka kwambiri. Izi zimapangitsa kuti zikhale zovuta kuchita zinthu monga kukweza manja anu pamwamba pa mapewa anu, kupesa tsitsi lanu, kapena kunyamula china chake kuchokera pashelufu.

Mu FSHD , minofu yosiyanasiyana ingakhudzidwe nthawi zosiyanasiyana. Mwachitsanzo, mkono wanu wakumanja ukhoza kukhala wofooka, koma mkono wanu wakumanzere sungakhale wofooka. Kapena manja onse awiri akhoza kukhala ofooka, koma limodzi likhoza kukhala lofooka kwambiri kuposa linzake.

Zizindikiro zina zodziwika bwino:

• Mimba yotuluka chifukwa cha kufooka kwa minofu ya m'mimba ya m'munsi.
• Fupa la pachifuwa lalowa mkati.
• Manja ofooka kapena olefuka.
• Kutopa kosatha. Zimenezi zikutanthauza kumva kutopa nthawi zonse.
• Nthawi zina pamakhala ululu waukulu . Ululu uwu ukhoza kuchitika m'minofu ndi m'malo olumikizirana mafupa.

Kodi zotsatirapo zoyipa za FSHD ndi ziti?

Matendawa akhoza kukhala ndi zotsatirapo zina. Mwachitsanzo, masomphenya, kumva, ndi kuyenda zingakhudzidwe . Pafupifupi anthu makumi awiri pa zana (20%) omwe ali ndi FSHD adzafunika kugwiritsa ntchito njinga ya olumala akakwanitsa zaka 50.

Zochitika zina zenizeni:

• Matenda a Coats: Mitsempha yamagazi yosakhazikika mu retina, yomwe ndi gawo lamkati la diso. Izi zingakhudze masomphenya.
• Kutupa kwa maso: Kuuma kwa mbali yowonekera kutsogolo kwa diso (cornea) chifukwa cha kulephera kutseka diso bwino. Izi zingayambitse kufiira ndi kupweteka m'maso.
• Kuvuta kumva mawu omveka bwino (`Kutaya kumva komveka bwino`). Izi zikutanthauza kuti mawu omveka bwino samveka bwino.
• `Trendelenburg Gait`: Kufooka kwa minofu ya ntchafu kumayambitsa kuyenda kogwedezeka kumbali yokhudzidwa.
• `Dontho la phazi`: Kulephera kupindika phazi mmwamba. Izi zingayambitse phazi kukoka pansi poyenda, zomwe zingakupangitseni kupunthwa.
• Lordosis: Kupindika kwa msana wakutsogolo.
• Scoliosis: Kupindika kwa msana m'mbali.

Kodi zifukwa za FSHD ndi ziti?

Monga tafotokozera kale, pali zifukwa ziwiri zazikulu zomwe zimayambitsa FSHD. Zonsezi zimagwirizana ndi majini.

`FSHD1` imapangidwa motere:Jini ya `DUX4` m'maselo a thupi lathu nthawi zambiri sigwira ntchito. Izi zikutanthauza kuti, sigwira ntchito. Koma jini iyi ikayamba kugwira ntchito, mapuloteni omwe imapanga amawononga minofu. Pakapita nthawi, minofu yomwe yakhudzidwayo imafooka ndikuchepa (atrophy).

`FSHD2` imayamba chifukwa cha kusintha kwa majini a `SMCHD1` m'thupi lathu. Jini iyi ya `SMCHD1` nthawi zambiri imathandiza kuti jini ya `DUX4` isagwire ntchito. Zimakhala ngati chipata chikutsekedwa. Koma jini ya `SMCHD1` ikasintha, sigwira ntchito bwino. Kenako, monga momwe zilili mu `FSHD1`, mapuloteni opangidwa ndi jini ya `DUX4` yogwira ntchito amawononga minofu.

Kodi FSHD imabadwa bwanji?

Matendawa amatengera kwambiri njira yodziwika bwino ya autosomal dominant. Izi zikutanthauza kuti ngakhale kholo limodzi litakhala ndi kopi imodzi ya jini yosazolowereka, ana awo akhozabe kutenga matendawa. Munthu amene ali ndi FSHD ali ndi mwayi wa 50 peresenti (50%) wopatsira jini yosazolowereka kwa ana awo. Izi zikutanthauza kuti ngati ali ndi ana awiri, m'modzi mwa iwo ali ndi mwayi wopeza matendawa.

Komabe, pafupifupi 30 peresenti (30%) ya anthu omwe ali ndi FSHD1 alibe mbiri ya banja lawo ya matendawa. Ofufuza amakhulupirira kuti izi zitha kukhala chifukwa cha kusintha kwatsopano komwe kumachitika munthu atatenga pakati. Izi zitha kukhala chifukwa cha vuto lotchedwa mosaicism. Mosaicism ndi pamene kapangidwe ka majini a maselo mwa munthu m'modzi ndi kosiyana. Mwachidule, maselo ena m'thupi ali ndi jini lomwe lili ndi vuto, pomwe ena alibe.

Kodi ndi zinthu ziti zomwe zimayambitsa matenda a FSHD?

Chinthu chachikulu chomwe chimayambitsa matendawa ndi mbiri ya banja lanu. Izi zikutanthauza kuti ngati amayi anu, abambo anu, kapena abale anu ali ndi matendawa, inunso muli ndi mwayi waukulu woti muwatenge.

Kodi matenda a FSHD amapezedwa bwanji?

Dokotala adzakufufuzani kaye thupi lonse. Kenako adzakufunsani ngati pali aliyense m'banja mwanu amene wakhala ndi zizindikirozi kapena FSHD.

Kuphatikiza apo, mutha kuchita mayeso monga awa:

• Kuyezetsa magazi: Izi zimayang'ana makamaka kuchuluka kwa ma enzyme otchedwa `(serum creatine kinase)` ndi `(serum aldolase)`. Ngati kuchuluka kwa ma enzyme kumeneku kwakwera, kungakhale chizindikiro chakuti pali vuto ndi minofu.
• Mayeso a mitsempha: Mayesowa amachitika kuti athetse mavuto ena a mitsempha. Amafufuza zinthu monga momwe minofu yanu imagwirira ntchito komanso momwe imagwirira ntchito. Amafufuzanso momwe minofu yanu imafooka komanso ngati minofu yanu ikuchepa kapena ikulimba (electromyography).
• Kufufuza minofu: Mu mayesowa, chitsanzo chaching'ono cha minofu chimatengedwa ndikuyang'aniridwa pogwiritsa ntchito maikulosikopu. Izi zitha kuwonetsa kuwonongeka kwa maselo a minofu.
• Mayeso a majini:Iyi ndi njira yokhayo yoyesera yomwe ingatsimikizire molondola kupezeka kwa FSHD ndi mtundu wake. Imatha kuzindikira ngati pali vuto ndi jini ya `DUX4`.

Kodi mankhwala a FSHD ndi ati?

Monga tanenera kale, palibe mankhwala a FSHD. Komabe, pali njira zingapo zomwe madokotala amalangizira kuti athandize kuchepetsa zizindikiro ndikupangitsa moyo kukhala wosavuta:

• Kuchiza thupi: Izi zimaphatikizapo kuchita masewera olimbitsa thupi ndi mankhwala kuti minofu ikhale yolimba komanso kuti mafupa aziyenda bwino.
• Zipangizo zodulira mafupa zothandizira minofu yofooka: Mwachitsanzo, ma corsets a minofu yofooka ya m'mimba, zothandizira kumbuyo, ndi zomangira zochepetsera ululu wa phewa ndi mkono. Komanso, zodulira mafupa za nsapato zanu kuti muzitha kuyenda mosavuta ndikuchepetsa kugwa.
• Kukonza mapewa pogwiritsa ntchito opaleshoni ndi njira yomwe imawongolera kuyenda kwa phewa. Izi zimamangirira tsamba la phewa pachifuwa, zomwe zimapangitsa kuti zikhale zosavuta kukweza mkono.

Kodi munthu amene ali ndi FSHD amakhala ndi moyo wautali bwanji?

Funso limene anthu ambiri amafunsa ndi ili. Nthawi zambiri, anthu omwe ali ndi matenda a shuga amatha kukhala ndi moyo wabwinobwino. Izi zikutanthauza kuti matendawa safupikitsa moyo wawo. Musadandaule nazo.

Kodi ndimadzisamalira bwanji?

FSHD ndi matenda osintha moyo omwe pakadali pano alibe mankhwala. Koma nayi malingaliro ena okuthandizani kukhala ndi vutoli:

• Lumikizanani ndi ena omwe ali ndi matenda a FSHD. Uwu ndi matenda osowa kwambiri, kotero anthu ambiri sadziwa za matendawa. Simungafune kulankhula za matenda anu, ndipo mungamve kuti ndinu nokha komanso nokha. Kulankhula ndi ena omwe akukumana ndi vuto lomweli kungakuthandizeni kwambiri. Pakhoza kukhala magulu othandizira odwala ngati awa ku Sri Lanka.
• Pitani kwa katswiri wa zamaganizo. FSHD imaletsa zinthu zomwe mungachite nokha. Kutaya ufulu wanu kungakhale kokhumudwitsa komanso koopsa. Chithandizo cha zamaganizo chingakuthandizeni kuzolowera moyo watsopanowu ndikukuthandizani kuchita ntchito za tsiku ndi tsiku mosavuta.
• Chitani masewera olimbitsa thupi opepuka a "aerobic". Masewera olimbitsa thupi monga kusambira ndi kuyenda amakuthandizani kuyenda. Komanso, masewera olimbitsa thupi amathandiza kuchepetsa kupsinjika maganizo. Komabe, onetsetsani kuti mwalankhula ndi dokotala wanu musanayambe pulogalamu yochita masewera olimbitsa thupi. Chifukwa masewera olimbitsa thupi ena si abwino pa vutoli.

Ndiyenera kupita liti kwa dokotala wanga?

Ngati minofu yanu ikufooka, kapena ngati kufooka kwanu kukukulirakulira, pitani kwa dokotala nthawi yomweyo. Komanso, dziwani zizindikiro zina, monga kutentha thupi ndi kupuma movutikira.

Ndi mafunso ati omwe ndiyenera kufunsa dokotala wanga?

Mungathe kufunsa dokotala mafunso monga awa:

• Palibe aliyense m'banja langa amene ali ndi FSHD. N’chifukwa chiyani ndinapeza izi?
• Kodi ndi mankhwala otani a mavuto anga omwe ndili nawo panopa?
• Kodi zizindikiro zanga zidzakula kwambiri?
• Kodi zizindikiro zanga zidzakula mofulumira bwanji?
• Kodi abale anga ayenera kuyesedwa majini?
• Ndi magulu ati othandizira omwe alipo omwe angandithandize?

Mukapezeka ndi matenda a FSHD, mungamve bwino, mukumaganiza kuti, "Ichi ndichifukwa chake minofu yanga sinagwire ntchito bwino kwa nthawi yayitali, chifukwa chake sindingathe kumwetulira kapena kukweza manja anga." Tsopano popeza mukudziwa chomwe chavuta, mungakhale ndi chidwi komanso nkhawa ndi zomwe zichitike pambuyo pake. Ngati muli ndi mafunso aliwonse, dokotala wanu ndiye malo abwino kwambiri opezera chidziwitso cha zomwe mungayembekezere.

Ndi uthenga wotani womwe tikufuna kutenga kuchokera munkhaniyi?

FSHD ndi matenda omwe amayamba pang'onopang'ono omwe poyamba amafooketsa minofu ya nkhope, mapewa, ndi manja. Amatha kutengera kwa makolo, kapena angayambitsidwe ndi kusintha kwa majini. Ngakhale kuti palibe mankhwala ake, kuthana ndi zizindikirozo ndikupeza thandizo lomwe mukufuna kungakuthandizeni kukhala ndi moyo wabwino. Ngati muli ndi zizindikirozi, ndikofunikira kufunafuna upangiri wa dokotala mwachangu momwe mungathere. Komanso, kumbukirani kuti simuli nokha paulendowu. Mupeze mphamvu zothana ndi vutoli ndi chidziwitso choyenera, chithandizo, komanso malingaliro abwino!

` FSHD, Facioscapulohumeral Muscular Dystrophy, kufooka kwa minofu, matenda a minofu, matenda a majini, kupweteka kwa phewa, minofu ya nkhope