Facioscapulohumeral muscular dystrophy

Facioscapulohumeral muscular dystrophy ndikufooka kwa minofu ndi kutayika kwa minofu yomwe imakulirakulira pakapita nthawi.

Facioscapulohumeral muscular dystrophy imakhudza minofu yakumtunda. Sizofanana ndi Duchenne muscular dystrophy ndi Becker muscular dystrophy, yomwe imakhudza thupi lakumunsi.

Facioscapulohumeral muscular dystrophy ndi matenda amtundu chifukwa cha kusintha kwa chromosome. Imapezeka mwa amuna ndi akazi. Zitha kukula mwa mwana ngati kholo lililonse lingakhale ndi jini la vutoli. Pa milandu 10% mpaka 30%, makolo samanyamula jini.

Facioscapulohumeral muscular dystrophy ndi imodzi mwazofala kwambiri zamatenda omwe amakhudza 1 mwa 15,000 mpaka 1 mwa akulu 20,000 ku United States. Zimakhudza amuna ndi akazi mofanana.

Amuna nthawi zambiri amakhala ndi zizindikiro zambiri kuposa akazi.

Facioscapulohumeral muscular dystrophy imakhudza kwambiri nkhope, phewa, ndi minofu yakumtunda. Komabe, imathanso kukhudza minofu mozungulira mafupa, chiuno, ndi mwendo wapansi.

Zizindikiro zimatha kuoneka atabadwa (mawonekedwe achichepere), koma nthawi zambiri sawonekera mpaka azaka 10 mpaka 26. Komabe, sizachilendo kuti zizindikilozo zimawonekera pambuyo pake m'moyo. Nthawi zina, zizindikilo sizimayamba.

Zizindikiro nthawi zambiri zimakhala zofatsa ndipo pang'onopang'ono zimaipiraipira. Kufooka kwa nkhope kumafala, ndipo kumatha kukhala:

• Eyelid akugwera
• Kulephera kuimba mluzu chifukwa cha kufooka kwa minofu ya tsaya
• Kuchepetsa nkhope chifukwa chofooka kwa nkhope nkhope
• Kukhumudwa kapena nkhope yakwiya
• Zovuta kutchula mawu
• Zovuta kufikira pamwamba pamapewa

Kufooka kwa minofu kumapangitsa kufooka monga masamba amapewa (mapiko ophwanyaphwanya) ndi mapewa otsetsereka. Munthuyo amavutika kukweza mikono chifukwa cha kufooka kwa m'mapewa ndi mkono.

Kufooka kwa miyendo yakumunsi ndikotheka pomwe matendawa amakula. Izi zimasokoneza kuthekera kosewera masewera chifukwa chotsika mphamvu komanso kusachita bwino. Kufooka kumatha kukhala kovuta kwambiri kusokoneza kuyenda. Anthu ochepa amagwiritsa ntchito njinga ya olumala.

Kupweteka kosatha kulipo mwa 50% mpaka 80% ya anthu omwe ali ndimatenda amtunduwu.

Kumva kwakumva komanso kusinthasintha kwamitima ya mtima kumatha kuchitika koma kumakhala kosowa.

Kuyezetsa thupi kumawonetsa kufooka kwa nkhope ndi minofu yamapewa komanso mapiko oseketsa. Kufooka kwa minofu yam'mbuyo kumatha kuyambitsa scoliosis, pomwe kufooka kwa minofu yam'mimba kumatha kuyambitsa mimba yomwe ikutha. Kuthamanga kwa magazi kumatha kudziwika, koma nthawi zambiri kumakhala kofatsa. Kuyesedwa kwa diso kumatha kuwonetsa kusintha kwa mitsempha yamagazi kumbuyo kwa diso.

Mayeso omwe angachitike ndi awa:

• Chiyeso cha Creatine kinase (chingakhale chokwera pang'ono)
• Kuyezetsa DNA
• Electrocardiogram (ECG)
• EMG (chisamaliro chamagetsi)
• Mafilimu a fluorescein
• Kuyesedwa kwa chromosome 4
• Mayesero akumva
• Minofu biopsy (itha kutsimikizira matendawa)
• Kuyesa kowoneka
• Kuyesa kwamtima
• X-ray ya msana kuti mudziwe ngati pali scoliosis
• Mayeso a ntchito yamapapo

Pakadali pano, facioscapulohumeral muscular dystrophy idakali yosachiritsika. Mankhwala amaperekedwa kuti athetse vuto ndikukhala ndi moyo wabwino. Ntchito imalimbikitsidwa. Kusagwira ntchito monga bedrest kumatha kukulitsa matenda am'mimbawo.

Thandizo lakuthupi lingathandize kukhalabe ndi mphamvu ya minofu. Mankhwala ena omwe angakhalepo ndi awa:

• Thandizo lantchito kuthandiza kukonza zochitika m'moyo watsiku ndi tsiku.
• Oral albuterol yowonjezera minofu (koma osati mphamvu).
• Mankhwala othandizira.
• Opaleshoni kuti akonze scapula yamapiko.
• Zothandizira kuyenda ndi zida zothandizira phazi ngati pali kufooka kwa akakolo.
• BiPAP yothandiza kupuma. Mpweya wokha uyenera kupewedwa mwa odwala omwe ali ndi CO2 (hypercarbia).
• Ntchito zopangira upangiri (wamisala, zamaganizidwe, wogwira ntchito).

Kulumala kumakhala kochepa. Nthawi ya moyo nthawi zambiri imakhudzidwa.

Zovuta zingaphatikizepo:

• Kuchepetsa kuyenda.
• Kuchepetsa mphamvu yakudzisamalira.
• Zofooka za nkhope ndi mapewa.
• Kutaya kwakumva.
• Kutaya masomphenya (osowa).
• Kulephera kupuma. (Onetsetsani kuti mukulankhula ndi omwe amakuthandizani musanakhale ndi anesthesia.)

Itanani omwe akukuthandizani ngati zizindikiro za matendawa zikuyamba.

Upangiri wamtunduwu umalimbikitsidwa kwa maanja omwe ali ndi mbiri yakubadwa ya matendawa omwe akufuna kukhala ndi ana.

Landouzy-Dejerine yotupa yaminyewa

• Minofu yakunja yakunja

Bharucha-Goebel DX. Matenda am'mimba. Mu: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, olemba. Nelson Textbook of Pediatrics. Wolemba 21. Philadelphia, PA: Elsevier; 2020: mutu 627.

Preston DC, Shapiro BE. Kuwonjezeka, kutalika, ndi kufooka kwakukulu. Mu: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, olemba. Neurology ya Bradley mu Kuchita Zachipatala. Wachisanu ndi chiwiri. Philadelphia, PA: Elsevier; 2016: chap 27.

Warner WC, Sawyer JR. Matenda a Neuromuscular. Mu: Azar FM, Beaty JH, Canale ST, eds. Opaleshoni ya Campbell. Wolemba 13. Philadelphia, PA: Elsevier; 2017: mutu 35.