Duchenne muscular dystrophy

Duchenne muscular dystrophy ndimatenda amtundu wobadwa nawo. Zimakhudza kufooka kwa minofu, yomwe imangokulirakulira.

Duchenne muscular dystrophy ndi mtundu wa kupindika kwa minofu. Zimakula mofulumira. Mitundu ina yamatenda am'mimba (kuphatikiza Becker muscular dystrophy) imakulirakulira pang'onopang'ono.

Duchenne muscular dystrophy imayambitsidwa ndi jini yolakwika ya dystrophin (puloteni m'minyewa). Komabe, nthawi zambiri zimapezeka mwa anthu omwe alibe mbiri yodziwika bwino yamabanja.

Matendawa nthawi zambiri amakhudza anyamata chifukwa cha matendawa. Ana aamuna omwe amanyamula matendawa (amayi omwe ali ndi jini lopunduka, koma alibe zizindikiritso zawo) aliyense ali ndi mwayi wokhala ndi matendawa 50%. Ana aakazi aliwonse ali ndi mwayi wa 50% wonyamula. Nthawi zambiri, mkazi amatha kudwala matendawa.

Duchenne muscular dystrophy imapezeka mwa mwana m'modzi mwa makanda 3600 achimuna. Chifukwa ili ndi vuto lobadwa nalo, zoopsa zimaphatikizaponso mbiri ya banja la Duchenne muscular dystrophy.

Zizindikiro nthawi zambiri zimawonekera asanakwanitse zaka 6. Zitha kubwera adakali akhanda. Anyamata ambiri sawonetsa zizindikilo m'zaka zoyambirira zamoyo.

Zizindikiro zimaphatikizapo:

• Kutopa
• Zovuta zophunzirira (IQ ikhoza kukhala yochepera 75)
• Kulemala kwamalingaliro (kuthekera, koma sikuipiraipira pakapita nthawi)

Kufooka kwa minofu:

• Imayamba mu miyendo ndi m'chiuno, koma imakhalanso yocheperako m'manja, m'khosi, komanso mbali zina za thupi
• Mavuto ndi luso lamagalimoto (kuthamanga, kudumpha, kudumpha)
• Kugwa pafupipafupi
• Vuto lodzuka pamalo abodza kapena kukwera masitepe
• Kupuma pang'ono, kutopa ndi kutupa kwa mapazi chifukwa chofooka kwa mtima waminyewa
• Vuto lakupuma chifukwa cha kufooka kwa minofu ya kupuma
• Kukula pang'onopang'ono kwa kufooka kwa minofu

Kupita patsogolo kovuta:

• Kutha kuyenda kumatha kutayika ali ndi zaka 12, ndipo mwanayo amayenera kugwiritsa ntchito chikuku.
• Mavuto opuma ndi matenda amtima nthawi zambiri amayamba ndi zaka 20.

Dongosolo lathunthu lamanjenje (minyewa), mayeso amtima, mapapo, ndi minofu atha kuwonetsa:

• Minofu yachilendo, yodwala (cardiomyopathy) imayamba kuwonekera pofika zaka 10.
• Kulephera kwa mtima kapena kupindika kwamtima (arrhythmia) kumapezeka mwa anthu onse omwe ali ndi Duchenne muscular dystrophy pofika zaka 18.
• Zofooka za chifuwa ndi kumbuyo (scoliosis).
• Minofu yokulirapo ya ng'ombe, matako, ndi mapewa (azaka pafupifupi 4 kapena 5). Minofu imeneyi pamapeto pake imalowetsedwa m'malo ndi mafuta komanso othandizira (pseudohypertrophy).
• Kutaya minofu (kuwononga).
• Minofu contractures zidendene, miyendo.
• Zofooka za minofu.
• Matenda opuma, kuphatikiza chibayo ndi kumeza ndi chakudya kapena madzimadzi akudutsa m'mapapu (kumapeto kwa matendawa).

Mayeso atha kuphatikiza:

• Electromyography (EMG)
• Mayeso achibadwa
• Kutulutsa minofu
• Seramu CPK

Palibe mankhwala odziwika a Duchenne muscular dystrophy. Chithandizo chimafuna kuwongolera zizindikiritso kuti moyo ukhale wabwino.

Mankhwala a Steroid amatha kuchepetsa kuchepa mphamvu yamphamvu. Amatha kuyambika mwanayo akapezeka kapena mphamvu yamphamvu ikayamba kuchepa.

Mankhwala ena atha kukhala:

• Albuterol, mankhwala omwe amagwiritsidwa ntchito kwa anthu omwe ali ndi mphumu
• Amino zidulo
• Zamatsenga
• Coenzyme Q10
• Chilengedwe
• Mafuta a nsomba
• Zotulutsa tiyi wobiriwira
• Vitamini E

Komabe, zotsatira za mankhwalawa sizinatsimikizidwe. Maselo opondera ndi mankhwala amtundu angagwiritsidwe ntchito mtsogolo.

Kugwiritsa ntchito ma steroids komanso kusachita masewera olimbitsa thupi kumatha kubweretsa kunenepa kwambiri. Ntchito imalimbikitsidwa. Kusagwira ntchito (monga bedrest) kumatha kukulitsa matenda am'mimbawo. Thandizo lakuthupi lingathandize kuti minofu ikhale yolimba komanso yogwira ntchito. Nthawi zambiri pamafunika chithandizo cholankhula.

Mankhwala ena atha kukhala:

• Kuthandiza mpweya wabwino (kugwiritsidwa ntchito masana kapena usiku)
• Mankhwala othandizira mtima kugwira ntchito, monga angiotensin otembenuza ma enzyme inhibitors, beta blockers, ndi diuretics
• Zipangizo zamagetsi (monga ma brace ndi ma wheelchair) kuti zithandizire kuyenda
• Kuchita opaleshoni ya msana kuti athetse scoliosis yopita patsogolo kwa anthu ena
• Proton pump inhibitors (kwa anthu omwe ali ndi Reflux ya gastroesophageal)

Mankhwala atsopano angapo akuphunziridwa m'mayesero.

Mutha kuchepetsa nkhawa zakudwala polowa nawo gulu lothandizira pomwe mamembala amagawana zomwe akumana nazo pamavuto. Muscular Dystrophy Association ndi gwero labwino kwambiri la chidziwitso cha matendawa.

Duchenne muscular dystrophy imabweretsa kukulirakulira pang'onopang'ono. Imfa nthawi zambiri imachitika ndi zaka 25, makamaka kuchokera pamavuto am'mapapo. Komabe, kupita patsogolo kwa chisamaliro chothandizira kwapangitsa kuti amuna ambiri azikhala ndi moyo wautali.

Zovuta zingaphatikizepo:

• Cardiomyopathy (amathanso kupezeka mwa onyamula azimayi, omwe ayeneranso kuwunikidwa)
• Kulephera mtima mtima (kawirikawiri)
• Zofooka
• Mtima arrhythmias (osowa)
• Kuwonongeka kwamaganizidwe (kumasiyana, nthawi zambiri kumakhala kochepa)
• Kulemala kwamuyaya, kopitilira muyeso, kuphatikiza kuchepa kwa kuyenda komanso kuchepa kwa luso lodzisamalira
• Chibayo kapena matenda ena opuma
• Kulephera kupuma

Imbani wothandizira zaumoyo wanu ngati:

• Mwana wanu ali ndi zizindikilo za Duchenne muscular dystrophy.
• Zizindikiro zimangokulirakulira, kapena zizindikilo zatsopano zimayamba, makamaka malungo ndi chifuwa kapena mavuto ampweya.

Anthu omwe ali ndi mbiri ya banja la matendawa angafunefune upangiri wa majini. Kafukufuku wamtundu wopangidwa panthawi yapakati ndi wolondola kwambiri pakuzindikira Duchenne muscular dystrophy.

Pseudohypertrophic minofu matenda; Kusokonekera kwa minofu - mtundu wa Duchenne

• Zolumikizana ndi X zomwe zimalumikizidwa ndi X - momwe anyamata amakhudzidwira
• Zolumikizana ndi X zomwe zimalumikizidwa kwambiri

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.

Tsamba la Muscular Dystrophy Association. www.mda.org/disease/duchenne-muscular-dystrophy. Idapezeka pa Okutobala 27, 2019.

Selcen D. Matenda a minofu. Mu: Goldman L, Schafer AI, olemba. Mankhwala a Goldman-Cecil. 26 wa. Philadelphia, PA: Elsevier; 2020: mutu 393.

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.