Kodi mwana wanu ali ndi zizindikiro izi? Tiyeni tikambirane za Matenda a Pelizaeus-Merzbacher (PMD)!

Kodi mudamvapo za matenda a Pelisseus-Merzbacher, kapena PMD mwachidule? Mwina mwazindikira kuti mwana wanu ali ndi kuchedwa kwa chitukuko, kuvutika kuyenda, kapena zizindikiro zina zachilendo, ndipo mwina mukuda nkhawa. Izi ndi vuto losowa kwambiri. Izi zikutanthauza kuti si vuto lomwe anthu ambiri amakumana nalo. Koma ndikofunikira kudziwa izi, makamaka ngati wina m'banja mwanu adakumanapo ndi mavutowa.

Kodi matenda a Pelisseus-Merzbacher (PMD) ndi chiyani? Tiyeni timvetse mosavuta!

Mwachidule, Matenda a Pelizaeus-Merzbacher (PMD) ndi matenda osowa omwe nthawi zambiri amakhala a majini , zomwe zikutanthauza kuti amatha kufalikira kuchokera ku mibadwomibadwo, zomwe zimakhudza ubongo wanu ndi msana (mitsempha yayikulu yomwe imayenda pansi pa msana wanu). Amayambitsa mavuto oyenda, monga kuyenda, kuthamanga, ndi kulumpha, komanso kugwira ntchito kwa minofu.

Taganizirani izi ngati mawaya amagetsi m'matupi athu. Mawaya awa ndi komwe mauthenga ochokera muubongo wathu amayendera m'matupi athu onse. Mu PMD, chophimba choteteza kuzungulira mitsempha yotchedwa myelin sichikukula mokwanira. Myelin ili ngati chivundikiro cha pulasitiki pa waya wamagetsi. Ndicho chimalola mauthenga a mitsempha kuyenda mwachangu komanso molondola. Chifukwa chake chivundikiro cha myelin ichi chikachepa, pamakhala mavuto ndi kutumiza mauthenga a mitsempha.

Anthu ena omwe ali ndi PMD angakumanenso ndi kuchedwa kwa chitukuko, zomwe zikutanthauza kuti angachedwe kuphunzira, kulankhula, kapena kuyenda, malinga ndi msinkhu wawo. PMD ndi matenda opitirira muyeso . Izi zikutanthauza kuti zizindikiro zimatha kuipiraipira pakapita nthawi.

Kodi matendawa amakhudza bwanji thupi lathu? (Kodi leukodystrophy ndi chiyani?)

PMD ndi matenda a majini omwe ali m'gulu la matenda otchedwa leukodystrophies . Matendawa amakhudza chinthu choyera cha dongosolo lathu la mitsempha. Chinthu choyera ichi ndi komwe ulusi wa mitsempha wokhala ndi myelin umapezeka. Chifukwa chake mu PMD, thupi lathu silipanga myelin yokwanira, zomwe zimawononga chinthu choyera ichi. Ichi ndichifukwa chake mauthenga ochokera ku ubongo kupita ku thupi lonse samayenda bwino.

Tangoganizirani, ngati munthu amene wanyamula uthenga satsatira njira yoyenera, uthengawo ukhoza kulephera, kapena kupita pamalo olakwika, sichoncho? Ndicho chimene chimachitika ku mitsempha yathu ya mitsempha pamene myelin yatayika.

Ndani amene ali ndi mwayi waukulu wopeza matenda a PMD?

PMD imakhudza kwambiri anyamata ndi amuna . Izi zili choncho chifukwa ndi matenda a majini ogwirizana ndi X. Izi zikutanthauza kuti kusintha kwa majini komwe kumayambitsa matendawa kuli pa chromosome ya X. Monga mukudziwa, akazi ali ndi ma chromosome awiri a X, pomwe amuna ali ndi chromosome imodzi ya X ndi chromosome imodzi ya Y.

Kotero, ngakhale mkazi atakhala ndi kusintha kwa majini kumeneku pa chromosome imodzi ya X, zizindikiro zake sizingakhale zazikulu kwambiri chifukwa cha chromosome ina yathanzi ya X. Matendawa sangakule konse. Koma ngati mwamuna ali ndi kusintha kumeneku pa chromosome yake yokha ya X, chiopsezo chotenga matendawa chimakhala chachikulu.

Kodi mitundu ikuluikulu ya matenda a Pelissaeus-Merzbacher ndi iti?

Pali mitundu iwiri ikuluikulu ya matenda a Pelisseus-Merzbacher:

1. Matenda a Classic Pelizaeus-Merzbacher

Mtundu uwu ndi wofala kwambiri . Zizindikiro nthawi zambiri zimayamba m'chaka choyamba cha moyo wa mwana . PMD yachikhalidwe imayambitsa mavuto a minofu ndi kuyenda. Mwachitsanzo, mwana akhoza kukhala wofooka, woyenda pang'onopang'ono, kapena kukhala ndi vuto lokhala ndi thanzi labwino.

Luso la anthu omwe ali ndi PMD yodziwika bwino, kutanthauza luso lophunzira ndi kukumbukira, nthawi zambiri limakula bwino mpaka unyamata. Koma kenako chitukuko chimenecho chingasiye. Pambuyo pa unyamata, pakhoza kukhala kuchepa pang'onopang'ono kwa luso la luntha.

2. Matenda a Connatal Pelizaeus-Merzbacher

Mtundu uwu ndi wosowa kwambiri komanso woopsa kwambiri . Mu mtundu uwu, zizindikiro monga mavuto aakulu osuntha, kuchedwa kukula, mavuto odyetsa, ndi khunyu zimatha kuonekera ali akhanda, mkati mwa miyezi ingapo kuchokera pamene mwana wabadwa.

Ana omwe ali ndi PMD yobadwa nayo nthawi zambiri saphunzira kuyenda . Komanso, ambiri amavutika kulankhula. Komabe, amatha kumvetsetsa zomwe ena akunena. Izi ndi zomvetsa chisoni kwambiri.

Kodi matenda amenewa otchedwa PMD ndi ofala bwanji?

Monga tanenera kale, matenda a Pelizaeus-Merzbacher ndi matenda osowa kwambiri . Malinga ndi akatswiri m'dziko ngati United States, pafupifupi mwamuna m'modzi mwa amuna 200,000 ali ndi matendawa. Izi ndi zochepa kwambiri pakati pa akazi. Ngakhale kuti n'zovuta kupeza ziwerengero zolondola pa izi ku Sri Lanka, amaonedwa kuti ndi matenda osowa kwambiri padziko lonse lapansi.

Kodi zizindikiro za PMD ndi ziti?

Zizindikiro za matenda a Pelisseus-Merzbacher zimatha kusiyana malinga ndi munthu, koma pali zinthu zina zomwe zimafanana:

• Mavuto a kulinganiza zinthu: Kulephera kukhala ndi kulinganiza zinthu bwino poyenda kapena kuyimirira.
• Kuchedwa kukula: Kuchedwa kulankhula, kuyenda, ndi kusewera malinga ndi msinkhu.
• Mavuto a kudya: Kuvuta kuyamwa kapena kumeza chakudya. Izi zingayambitsenso kuchepa thupi.
• Stridor: Phokoso lalikulu kwambiri popuma.
• Kusuntha maso mosadzifunira (nystagmus): Kusuntha maso mofulumira, kosalekeza, kosalamulirika kapena mmwamba ndi pansi.
• Kugwedezeka kapena kugwedezeka kosayembekezereka kwa thupi (dystonia): Kugwedezeka kwa minofu kosalamulirika kapena kugwedezeka kwa ziwalo za thupi.
• Kulemera pang'ono: Kulephera kunenepa molingana ndi msinkhu.
• Kufooka kwa minofu (hypotonia): Kumva kufooka, kusowa kwa minofu.

Ngati mwana wanu ali ndi chimodzi kapena zingapo mwa zizindikiro izi, ndikofunikira kwambiri kufunafuna upangiri wa dokotala nthawi yomweyo .

Kodi n’chiyani chimayambitsa PMD?

Matenda a Pelisseus-Merzbacher nthawi zambiri amayamba chifukwa cha kusintha kwa majini a PLP1 . Kusintha kumeneku kumatha kutengera kwa kholo limodzi kapena onse awiri.

Komabe, mwa anyamata pafupifupi 20% omwe ali ndi PMD, kusintha kwa majini a PLP1 sikunapezeke. Ena mwa iwo akhoza kukhala ndi kusintha kwa majini a GJC2 . Ena akhoza kukhala ndi PMD popanda chifukwa chomveka. Izi ndi zovuta za mankhwala.

Kodi PMD imapezedwa bwanji?

Dokotala wa mwana wanu angaganize kuti ali ndi PMD kutengera zizindikiro zake. Angapemphe mayeso angapo kuti atsimikizire zomwe akukayikira:

• Mayeso ojambulira: Mwa awa, MRI scan ndiyo yofunika kwambiri. Izi zingagwiritsidwe ntchito kuona ngati pali kusowa kwa myelin mu ubongo ndi msana wa mwana. Zili ngati kujambula chithunzi.
• Mayeso a majini: Mayesowa, omwe amaphatikizapo kutenga magazi, amatha kudziwa ngati pali kusintha kwa majini komwe kumayambitsa PMD. Iyi ndiyo njira yokhayo yotsimikizira matendawa.

Kodi mankhwala a PMD ndi ati?

Mwatsoka, palibe mankhwala a matenda a Pelisseau-Merzbacher pakadali pano . Komabe, sizikutanthauza kuti palibe chomwe tingachite. Cholinga chachikulu cha chithandizo ndikuwongolera moyo wa wodwalayo ndikulamulira zizindikiro zake .

Pali njira zingapo zochiritsira zomwe zingagwiritsidwe ntchito pa izi:

• Mankhwala: Mankhwala angaperekedwe kuti achepetse kupweteka kwa minofu ndi khunyu.
• Kuchiza thupi kapena chithandizo cha ntchito: Izi zimathandiza kuti mwana akhale ndi mphamvu, mphamvu, komanso kuwongolera kayendedwe ka thupi. Makamaka, zimamuphunzitsa kuyenda, kusewera, komanso kuchita zinthu payekha.
• Chithandizo cha maso: Kusuntha maso kosafunikira komwe kwatchulidwa kale (nystagmus) kumatha kuchiritsidwa ndi magalasi kapena, nthawi zina, opaleshoni.
• Uphungu: Mlangizi Wovomerezeka wa Zaumoyo wa MaganizoNdikofunikira kwambiri kupeza uphungu kuchokera kwa dokotala. Uphungu uwu udzakuthandizani kuthana ndi nkhawa ndi nkhawa zomwe zimadza chifukwa chokhala ndi matenda obadwa nawo ngati awa, komanso kukuthandizani kuthana nawo bwino. Izi ndizofunikira kwambiri kwa mwana komanso makolo.

Kodi zizindikiro za PMD ndi ziti?

Kuyembekezeka kwa matenda a PMD, kutanthauza kuti matendawa adzakukhudzani mpaka liti komanso nthawi yomwe mudzakhala ndi moyo, kumadalira kuopsa kwa zizindikiro zanu . Anthu omwe ali ndi zizindikiro zoopsa nthawi zambiri amakhala ndi matendawa kwambiri komanso moyo wawo umakhala waufupi.

Komabe, anthu ena sangakhale ndi zizindikiro zoopsa kwambiri. Angakhale ndi moyo wabwinobwino ndipo sakhudza kwambiri zochita zawo za tsiku ndi tsiku. Dokotala wanu kapena namwino angakuthandizeni kumvetsetsa momwe PMD ingakukhudzireni inu kapena mwana wanu. Musataye mtima.

Kodi pali njira yopewera PMD?

Mwatsoka, palibe njira yopewera matenda a Pelisseus-Merzbacher chifukwa ndi matenda a majini.

Komabe, ngati muli ndi PMD, kapena ngati mukuganiza kuti mwina ndinu amene mumatenga matendawa (ndiko kuti, ngati wina m'banja mwanu ali ndi matendawa), mungafune kuganizira zoyezetsa majini .

Kuyezetsa majini kungakuthandizeni kudziwa ngati muli ndi kusintha kwa majini komwe kumayambitsa PMD. Mutha kulankhula ndi mlangizi wa majini kuti mumvetse zotsatira za mayeso ndikupeza chiopsezo chomwe chilipo kuti ana anu alandire matendawa. Izi zingathandize kwambiri pokonzekera tsogolo.

Mafunso oti mufunse dokotala wanu

Ngati inu kapena mwana wanu ali ndi matenda a Pelisseus-Merzbacher, kapena ngati mukukayikira, mutha kufunsa dokotala wanu mafunso awa:

• Kodi n’chiyani chimachititsa kuti ine/mwana wanga tikhale ndi matenda a Pelisseus-Merzbacher?
• Ndi mayeso ati omwe amagwiritsidwa ntchito pozindikira matenda a Pelisseus-Merzbacher?
• Kodi mankhwala a matenda a Pelissaeus-Merzbacher ndi ati? Ndi mankhwala ati omwe ndi abwino kwa mwana/ine?
• Kodi pali mwayi wotani woti ana anga adzalandira matenda a Pelisseus-Merzbacher kuchokera kwa ine?

Kuwonjezera pa mafunso awa, lankhulani ndi dokotala wanu za chilichonse chomwe mukuganiza, mantha kapena kukayikira kulikonse komwe muli nako. Musasunge chilichonse m'maganizo mwanu.

Pomaliza, chinthu chofunikira kwambiri kukumbukira (Uthenga Wopita Nawo Kunyumba)

Ndizachibadwa kumva kudabwa komanso chisoni mukazindikira kuti mwana wanu ali ndi matenda a Peliseus-Merzbacher. Zimachitika kwa aliyense. Kumbukirani, simuli nokha .

Chithandizo cha PMD chimasiyana malinga ndi mtundu wa matenda ndi kuopsa kwa zizindikiro. Anthu ena omwe ali ndi PMD amakhala ndi zizindikiro zochepa, kotero luso lawo kapena moyo wawo sizimakhudzidwa kwambiri.

Gwirani ntchito ndi dokotala wanu kuti mupange dongosolo la chithandizo lomwe lingagwire ntchito kwa inu ndi banja lanu.Ndi chidziwitso choyenera, chithandizo, ndi chikondi, mutha kukumana ndi vutoli. Yesetsani nthawi zonse kuganiza bwino.

Matenda a Pelisseus-Merzbacher, PMD, matenda a majini, myelin, dongosolo lamanjenje, ana, kuchedwa kwa chitukuko