Genetic muscle disorder
Duchenne muscular dystrophy (DMD) imwe yezvipfumbamwe zvakasiyana-siyana zvemuscular dystrophy, boka rezvirwere zvepabonde rinoshandisa kushandiswa kwemisungo yokuzvidira mumuviri. Duchenne MD inotora nhaka sehutano hweC-X . Nemhaka yenzira iyo yakatora nhaka, Duchenne MD inonyanya kubata vakomana. Vasikana vanogona kugamuchira nhaka yeDMD asi vasina zviratidzo zvehosha.
Duchenne MD inobata inenge inenge 1 mu-3 500 yose inoberekwa nevanhurume (vanenge 20 000 mitsva miviri gore negore). Inobata vana vemarudzi ose. Ijeni reDMD rinokonzera kusavapo kweDystrophin, puroteni inobatsira kuchengeta masero masero. Izvi zvinoreva kuti masero emuviri anokonzerwa nyore nyore uye anove asina simba pane nguva.
Zviratidzo
Mumwe mukomana ane Duchenne MD anowanzowanzoita sechecheche. Zviratidzo zveDMD zvinowanzotanga pakati pemakore maviri ne6. Mwana akabatwa anogona:
- kunetseka kufamba, kumhanyira, kana kukwira makwitefa nekuda kwekushaya simba mumakumbo nemapanga
- kurwisana kusimudza musoro, kana kuti ane mitsipa isina simba
- vanoda kubatsirwa kubva kumusoro
- famba nemakumbo ake ari oga
- simira uye famba nebhokisi rake uye mudumbu wakadzika kunze (kana unodzungaira)
- shandisa Gower nzira yekusimudza kubva pasi (inotambanudza maoko ake kumakumbo ake panzvimbo yekumira zvakananga kumusoro, pamusana pokushaya simba kwemakumbo)
Duchenne MD pakupedzisira inokanganisa mishonga yose mumuviri, kusanganisira moyo uye kufema kwemisumbu, kuitira kuti mwana akure zviratidzo zvekare angasanganisira:
- kuneta
- kunetseka kufema
- Zvinetso zvemwoyo zvichibva pamwoyo wakawedzerwa
- kurasikirwa kwekwanisi yekufamba nezera remakore gumi nemaviri
- kushaya simba mumaoko nemaoko
Kuziva
Kuongororwa kweDuchenne MD kunowanzoenderana nekuvandudzirwa kwezviratidzo mumakore ekutanga emwana. Vabereki kana vadzidzisi vanotanga kuona kuti mukomana ane ruzivo rwokukwira matanho kana kugara pamwe nevamwe vana.
Muchikamu chekutanga cheDMD, kuongororwa kweropa kwechiremera kinase (CK kana CPK) kunogona kuratidza mazinga akakwirira anowanzoita 10 kusvika zana nguva dzose. Uyu muedzo unoratidza kuti kuora kwemisimba kunowanikwa asi hakusi kusimbisa kuongororwa. Kuenzanisa kwemajeni - kutarisa kuvapo kweDMD gene - ndiyo nzira yakanakisisa yekusimbisa kuongororwa. Kana imwe mwana achizivikanwa kuti ane DMD, dzimwe nhengo dzemhuri dzinogona kuongororwa kuti dzione kuti ndiani angave anewo jeni.
Kurapa
Kunyangwe kutsvakurudza kwakawanda pamusoro peDuchenne MD kuri kuitwa, hakuna mushonga asi kana nzira yekudzivisa chirwere ichi kuti chirege kuipa kupfuura nguva. Mishonga prednisone inogona kuderedza kushungurudzika kwemitsipa, kuvandudza simba, uye kubatsira kubatsira simba, asi ine migumisiro yakakomba iyo inotorwa kwenguva yakareba. Mishonga inogona kudiwa kutorwa kana matambudziko emwoyo aripo. Kurapa kwepanyama uye yebasa kunobatsira pakuchengetedza kushanduka kwezvinhu uye kudzivirira kusvibiswa kwemisumbu kubva pakubvumirana. Basa reAerobic sekushambira rakanaka kwazvo kuvakomana vane DMD. Kutaura kunogona kudiwa kana mwana ari kuoma kutaura kana kutaura.
Sezvo chirwere chacho chichifambira mberi, mukomana achada zvishandiso zvinogadziriswa zvakadai sehushu uye chikwama chevasimhu. Pamusana pezvinetso zvokufema, vamwe vakomana vangada kuva netcheostostomy tube chirwere chinowanikwa mumutambo wavo (windpipe), uye vamwe vangave vachida kupemha.
Kunyangwe nehutano hwakanakisisa, varume vechidiki vane Duchenne MD havawanzopukunyuki kupfuura makore avo ekutanga makumi matatu nekuda kwehupenyu hunopisa upenyu uye zvinetso zvekufema zvinowedzera nekuda kwechirwere.
> Sources:
> "Duchenne Muscular Dystrophy (DMD)." Zvirwere. July 2007. Muscular Dystrophy Association.
> "NINDS Muscular Dystrophy Information Page." Matambudziko. 15 Sep 2008. National Institute > for > Neurological Disorders uye Stroke.
> "About Duchenne." Kunzwisisa Duchenne. Parent Project Muscular Dystrophy. 1 Mbudzi 2008