Limbani-lamba waminyewa yaminyewa

Zipilala zam'mimba zolimba zimaphatikizapo matenda osachepera 18 obadwa nawo. (Pali mitundu 16 yodziwika bwino ya majini.) Matendawa amayamba kukhudza minofu mozungulira lamba ndi m'chiuno. Matendawa amakula. Potsirizira pake, zingaphatikizepo minofu ina.

Limb-girdle muscular dystrophies ndi gulu lalikulu la matenda amtundu womwe mumakhala kufooka kwa minofu ndi kuwonongeka (muscular dystrophy).

Nthawi zambiri, makolo onse amafunika kupatsira ana omwe ali ndi matendawa (autosomal recessive cholowa). Mu mitundu ina yosowa, kholo limodzi lokha liyenera kupatsira jini losagwira ntchito kuti ikhudze mwana. Izi zimatchedwa cholowa chachikulu cha autosomal. Kwa 16 ya izi, jini lopunduka lapezeka. Kwa ena, jini sichidziwikebe.

Choopsa chofunikira ndikukhala ndi wachibale yemwe ali ndi vuto la kuchepa kwa minofu.

Nthawi zambiri, chizindikiro choyamba chimakhala kufooka kwa m'chiuno. Zitsanzo za izi zimaphatikizaponso zovuta kuyimirira pamalo okhala osagwiritsa ntchito mikono, kapena kuvuta kukwera masitepe. Kufooka kumayambira muubwana kufikira uchikulire.

Zizindikiro zina ndizo:

• Zachilendo, nthawi zina kuyenda, kuyenda
• Malumikizano omwe amakhazikika pamalo ogwirizana (kumapeto kwa matenda)
• Ng'ombe zazikulu ndi zowoneka mwamphamvu (pseudohypertrophy), zomwe sizolimba kwenikweni
• Kutayika kwa minofu, kupatulira kwa ziwalo zina za thupi
• Kupweteka kumbuyo kwenikweni
• Kupapira kapena kulodza
• Kufooka kwamapewa
• Kufooka kwa minofu kumaso (pambuyo pake matendawa)
• Kufooka kwa minofu ya m'miyendo, mapazi, mikono, ndi manja (pambuyo pake matendawa)

Mayeso atha kuphatikiza:

• Magazi opanga magazi a kinase
• Kuyezetsa DNA (kuyesa maselo)
• Echocardiogram kapena ECG
• Kuyesedwa kwa Electromyogram (EMG)
• Kutulutsa minofu

Palibe mankhwala odziwika omwe amasintha kufooka kwa minofu. Mankhwala a Gene atha kupezeka mtsogolomo. Chithandizo chothandizira chingachepetse zovuta za matendawa.

Vutoli limayendetsedwa kutengera zisonyezo za munthuyo. Zimaphatikizapo:

• Kuwunika mtima
• Zothandizira kuyenda
• Thandizo lakuthupi
• Chisamaliro cha kupuma
• Kuchepetsa thupi

Nthawi zina pamafunika opaleshoni ya mafupa kapena mafupa.

Muscular Dystrophy Association ndichida chabwino kwambiri: www.mda.org

Mwambiri, anthu amakhala ndi zofooka zomwe zimawonjezeka pang'onopang'ono minofu ndikufalikira.

Matendawa amachititsa kuti munthu asamayende bwino. Munthuyo amatha kudalira njinga ya olumala pazaka 20 mpaka 30.

Kufooka kwa minofu yamtima komanso magwiridwe antchito amagetsi pamtima kumatha kuonjezera chiwopsezo cha kugundana, kukomoka, ndi kufa mwadzidzidzi. Anthu ambiri omwe ali ndi matendawa amakhala atakula, koma osakwanitsa zaka zawo zonse.

Anthu omwe ali ndi lamba wamiyendo yamiyendo amatha kukhala ndi zovuta monga:

• Nyimbo zosadziwika bwino zamtima
• Mapangano amalumikizidwe
• Zovuta ndi zochitika zatsiku ndi tsiku chifukwa chofooka phewa
• Kufooka pang'onopang'ono, komwe kumatha kubweretsa kufunikira chikuku

Itanani yemwe akukuthandizani ngati inu kapena mwana wanu mukufooka ndikunyamuka. Itanani a geneticist ngati inu kapena wachibale wanu mwapezeka kuti muli ndi vuto la kusokonekera kwa minofu, ndipo mukukonzekera kukhala ndi pakati.

Uphungu wamtunduwu tsopano ukuperekedwa kwa anthu omwe akhudzidwa ndi mabanja awo. Posachedwa kuyesedwa kwa ma molekyulu kudzaphatikizira kutsata matupi athu onse kwa odwala ndi abale awo kuti athe kukhazikitsa bwino matendawa. Upangiri wa chibadwa ungathandize maanja ena ndi mabanja kuphunzira za kuopsa ndikuthandizira kulera. Zimathandizanso kulumikiza odwala omwe ali ndi matenda olembetsa komanso mabungwe azachipatala.

Zina mwazovuta zimatha kupewedwa ndi chithandizo choyenera. Mwachitsanzo, pacemaker ya mtima kapena defibrillator imachepetsa kwambiri chiopsezo chakufa mwadzidzidzi chifukwa cha kuthamanga kwamtima kosazolowereka. Thandizo lakuthupi limatha kupewa kapena kuchedwetsa mgwirizano ndikupititsa patsogolo moyo wabwino.

Anthu okhudzidwa angafune kuchita kubanki ya DNA. Kuyezetsa DNA kumalimbikitsidwa kwa iwo omwe akukhudzidwa. Izi zimathandiza kuzindikira kusinthika kwa majini am'banja. Masinthidwewo atapezeka, kuyesa kwa DNA kwa amayi asanakwane, kuyesa onyamula, ndi kudziwitsa ana asanabadwe ndizotheka.

Matenda a minofu - mtundu wa lamba (LGMD)

• 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.

[Adasankhidwa] Finkel RS, Mohassel P, Bonnemann CG. Kobadwa nako, lamba wamiyendo ndi zina zotupa zaminyewa. Mu: Swaiman KF, Ashwal S, Ferriero DM, et al, olemba. Swaiman's Pediatric Neurology. Lachisanu ndi chimodzi. Zowonjezera; 2017: mutu 147.

Mohassel P, Bonnemann CG. Limbani-lamba waminyewa yaminyewa. Mu: Darras BT, Jones HR, Ryan MM, DeVivo DC, olemba. Matenda a Neuromuscular Of Infancy, Childhood, Ndi Achinyamata. Wachiwiri ed. Waltham, MA: Atolankhani a Elsevier Academic; 2015: chaputala 34.