Mthenda Yamtundu wa Ataliphy - SMA

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Zambiri za Spinal Muscular Atrophy - SMA

Mitsempha ya m'mimba (SMA) ndi matenda osadziwika omwe amachititsa kuti mitsempha ya m'mphepete mwa mitsempha ikhale ndi mimba yodzifunira. SMA makamaka imasautsa ana.

Mwanayo ali ndi SMA adzalandira kuwonongeka kwa ntchito zazikulu monga kupuma , kuyamwa ndi kumeza. Zowonjezera zikhoza kukhala ndi vutoli. Mwachitsanzo, zovuta zachilendo za m'mphepete mwa msana zingakhalepo chifukwa cha minofu yofooka, kumaphatikizapo kupuma kwa kuperewera kwa mapapo.

Asanafike kubweretsa makapu, kusokonezeka pakumeza nthawi zambiri kunayambitsa imfa mu SMA mtundu 1 (mtundu woopsa kwambiri). Panopa pali zipangizo zambiri zothandizira kusunga ana ndi SMA amoyo (ndi omasuka, osachepera zaka zapitazo). Komabe, zoopsa zilipobe. Mmodzi akung'amba. Choking n'zotheka chifukwa mwana yemwe ali ndi SMA amalephera kumeza ndi kutaya minofu. Chiopsezo china ndi chikhumbo kapena kukhuta kwa chakudya. Kutsekemera kumatha kulepheretsa phokoso komanso kukhala magwero a matenda.

SMA imawonetsera m'njira zambiri, zomwe zidzasintha makamaka malinga ndi mtundu. Mu mitundu yonse ya SMA, mukhoza kuyembekezera minofu yofooka, kuwonongeka, ndi atrophy, komanso mavuto a kugwirizanitsa minofu. Chifukwa cha izi chikugona pa chikhalidwe cha matendawa: SMA imakhudza mantha amodzi a minofu yaufulu.

Palibe mankhwala a SMA. Chizindikiro chotsimikizika kwambiri chimabwera ndi kuyang'ana koyambirira. Kupita patsogolo kwa mankhwala kungathandize kuthana ndi mavuto omwe akukhudzana ndi SMA.

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Genetics ya Spinal Muscular Atrophy - SMA

SMA ndi matenda opatsirana kwambiri. Kuti mumvetse izi phunziro lalifupi la sayansi ndilo:

Pali mbali iliyonse ya selo m'thupi la munthu lomwe limalandira malangizo ochokera ku majini. Mbali ya selo yomwe imalandira malangizo, mwachibadwa, protien. Pamene malangizo ali ndi kulakwitsa, izi zimatchedwa kuchotsedwa. Mu SMA, malangizo operekedwa kwa mitsempha yomwe imayambitsa minofu ili ndi kuchotsa komwe kumayambitsa kulephera kwothandizira. Jini yomwe imapereka malangizo kwa makina oyendetsa galimoto amatchedwa SMN 1, kapena neuron yopulumuka.

Munthu aliyense ali ndi magawo awiri a majini pa malangizo omwe amaperekedwa: mmodzi mwa jini amachokera kwa mayi ndi mmodzi kuchokera kwa bambo. Matenda ena adzawonekera ngati limodzi mwa majini omwe anabadwa ali ndi zolakwika. Matenda ena, monga SMA, amafunikira majini obadwa nawo a mayi ndi abambo kuti akhale ndi cholakwika chisanafike. SNM 1 (survival motor neuron) jini, yomwe imayang'anira SMA, ndi imodzi mwa mitundu ya majini. Izi zikutanthauza kuti kuti mwana akhale ndi SMA, makolo onse awiri ayenera kuti anapereka SMN 1 ndi malangizo olakwika (kuchotsedwa kumene tatchula pamwambapa). Ngakhale apo, mwayi ndi 1 pa 4 pa mimba kuti mwanayo akhale ndi SMA. Akuluakulu makumi anayi ndi makumi anayi ali ndi zonyamula jini zomwe zimayambitsa SMA.

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Mitundu ya Spinal Muscular Atrophy

Matenda a mitsempha ya m'mimba imakhudza mwana mmodzi mwa ana 6,000. Ndicho chiwopsezo chachikulu chomwe chimayambitsa imfa mwa ana osapitirira zaka 2. SMA sichikutsutsa chifukwa cha yemwe zimakhudza. Pali mitundu yambiri ya SMA. Ena ali okhudzana ndi SMN 1 (survival motor neuron gene) ndipo takambirana m'nkhaniyi. Palinso mitundu ina ya SMA, monga Spinal Bulbar Muscular Atrophy (SBMA). SMA yokhudzana ndi SMN 1 imagawidwa ndi kuuma komanso kukula kwa zizindikiro; kuchuluka kwake, kuchuluka kwa mapuloteni m'thupi lamakono, ndipo (msinkhu) zaka zoyambira zonse zimakhala zikuwonetserana mgwirizano.

Kukula kwa zowawa ndi malingaliro ndizochilendo ku SMA.

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Mitundu ya Spinal Muscular Atrophy - SMA Type 1

Mtundu wa 1 SMA ndi ovuta kwambiri, okhudza ana osapitirira zaka 2. Kudziwa mtundu wa 1 SMA nthawi zambiri umapangidwa miyezi 6 yoyambirira ya moyo. Ana omwe ali ndi mtundu wa 1 SMA sangathe kupeza zinthu zomwe zimawathandiza kuti azikwanitsa kupita patsogolo, monga kuyamwa kutsitsa, kuyenderera, kukhala, ndi kukwawa. Ana omwe ali ndi mtundu wa SMA amayamba kufa asanakwanitse zaka 2, kawirikawiri chifukwa cha mavuto omwe amaphatikizika nawo.

Ana omwe ali ndi mtundu wa SMA 1 amayamba kukhala otayirira, osayendayenda komanso ngakhale floppy. Mawonekedwe awo amayenda mu mafashoni a mbozi ndipo sangathe kuwongolera mutu wawo atakhala pansi. Angakhale ndi zofooka zooneka ngati scoliosis, ndipo adzakhala ndi zofooketsa za minofu, makamaka minofu yambiri imene ili pafupi ndi msana. 1, 2

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Mitundu ya Spinal Muscular Atrophy - SMA Type 2

SMA mtundu 2, wotchedwanso Intermediate SMA, ndiwo mtundu wambiri wa SMA. Zimapatsa moyo wautali kuposa SMA Type 1, koma moyo wautali kuposa wamba. Zamoyo zimatha kupita mpaka zaka za makumi awiri kapena makumi atatu. Matenda opatsirana ndi omwe amachititsa anthu kufa mofanana ndi mtundu wa 2. SMA mtundu wa 2 umayamba miyezi 6 kapena 18 kapena mwanayo atasonyeza kuti akhoza kukhala popanda thandizo (atakhala pansi).

Zizindikiro za mtundu 2 zimaphatikizapo kuwonongeka, kuchedwa kwa mothamanga, minofu yochulukitsidwa ya mwana wamphongo ndi kunthunthumira kwala zala. Minofu yomwe ili pafupi kwambiri ndi msana imakhudzidwa ndi kufooka koyamba; miyendo idzakhala yofooka pamaso pa mikono. Ana omwe ali ndi mtundu wa 2 SMA sadzatha kuyenda popanda thandizo. Nkhani yabwino ndi yakuti mwana yemwe ali ndi SMA adzatha kugwira ntchito ndi mikono ndi manja ake, monga keyboarding, kudyetsa, ndi zina. Zakhala zikuchitika kuti ana omwe ali ndi SMA mtundu 2 ali anzeru kwambiri. Mankhwala opangira thupi, zipangizo zothandizira ndi magudumu a magudumu amatha kuyenda motalikira popereka moyo wopindulitsa kwa ana omwe ali ndi SMA mtundu 2.

Onetsetsani 2 Mavuto Ofunika ndi SMA Type 2

• Matenda odzitamandira angayambitse matenda
• Scoliosis ndi / kapena kyphosis angayambe chifukwa cha zofooka zamkati zamkati.

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Mitundu ya Spinal Muscular Atrophy - SMA mitundu 3 ndi 4

Mtundu wa SMA 3, womwe umatchedwanso Wofatsa SMA, umayamba patapita miyezi 18, kapena mwanayo atatenga mayendedwe asanu akuyenda okha. Anthu omwe ali ndi SMA wofatsa amakhalitsa nthawi yaitali ndipo angathe kukhala ndi ntchito zamakono zokongoletsedwa ndi zokwaniritsa. Anthu omwe ali ndi kachilombo ka SMA 3 kawirikawiri amadalira zipangizo zothandizira, ndipo m'miyoyo yawo yonse amafunika kuyang'anitsitsa komwe ali pokhudzana ndi kupuma ndi msana . Amakonda kuleka kuyenda nthawi zina m'miyoyo yawo. Akasiya kuyendayenda amasiyana pakati pa achinyamata ndi zaka 40.

Ngakhale ana omwe ali ndi mtundu wa 3 SMA akhoza kuyenda ndi kuyenda, pamakhala zofooka za minofu ndi kuwonongeka kwa minofu yambiri, mwachitsanzo, omwe ali pafupi kwambiri ndi msana.

Pali mtundu wa 4 wa SMA - SMA ya anthu akuluakulu. Mtundu wachinayi umaonetsa pamene munthuyo ali mwa iye kapena zaka makumi atatu. Monga momwe mukuganizira, SMA mtundu wa 4 ndi mawonekedwe ofatsa kwambiri pa kupitiriza kwa matendawa. Zizindikiro za mtundu wa 4 ndizofanana ndi za mtundu wa 3.

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Kuzindikira ndi kuyesa kwa Spinal Muscular Atrophy - SMA

Njira yoyamba yopezera chidziwitso ndi kwa makolo kapena osamalira kuzindikira zizindikiro za SMA mwana wawo. Zizindikiro izi zinafotokozedwa m'masamba apitawo. Dokotala ayenera kutenga mbiri yakale yokhudza zachipatala za mwanayo, kuphatikizapo mbiri ya banja ndi kuunika kwa thupi.

Pali mitundu yambiri ya mayesero omwe amagwiritsidwa ntchito kuti azindikire SMA:

• Mayeso a magazi
• Kusokonezeka kwa minofu
• Kuyeza kwa majini
• EMG

Pali zambiri zomwe zimapangidwa poyesa kuyesa SMA kwa ana, komanso kuyesa makolo kuti azikhala nawo. Mu 1997, mayeso a DNA, omwe amatchedwa kuti PCR, amayesa kumsika kuti athandize makolo kudziwa ngati ali ndi jini la mutant lomwe limayambitsa SMA. Mayesowa amachitika pochita zitsanzo za magazi. Kuyesera anthu ambiri ndi kovuta kwambiri, kotero iwo amasungidwa kwa omwe akhala ndi anthu omwe ali ndi SMA m'banja lawo.

Kuyesera n'kotheka kupyolera ndi amniocenteses kapena chorionic villus.

Gawo la Gawoli lili ndi zidziwitso za komwe angapite kukayezetsa

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Chithandizo cha Spinal Muscular Atrophy - SMA

Chithandizo cha SMA chimalimbikitsa zamoyo, kulimbikitsa ufulu komanso / kapena kusintha moyo wa wodwalayo. Zitsanzo za njira za chisamaliro ndi chithandizo zikuphatikizapo:

• mankhwala othandizira
• kugwiritsa ntchito zipangizo zothandizira monga zikwama za olumala, makina opuma ndi tizilombo zopatsa. Pali zambiri zothandizira SMA. Ndi bwino kukambirana izi ndi gulu lanu la mankhwala.
• opaleshoni ya kuwonongeka kwa msana

Madokotala amalimbikitsa kuti mabanja azigwira ntchito ndi gulu lachipatala mu njira zosiyanasiyana. Wodwala wa SMA ayenera kuyembekezedwa kawirikawiri pa nthawi yake kapena moyo wake wonse. Kupereka uphungu kwa amtundu kwa abambo n'kofunika kwambiri.

Ntchito siyenera kupeŵedwa, koma amagwiritsidwa ntchito m'njira yotetezera kuwonongeka, mgwirizano, ndi kuuma ndi kusunga kayendetsedwe ka kayendetsedwe kake ndi kusinthasintha; Choncho, siziyenera kuchitidwa mpaka kufika pofooka. Chakudya chabwino chidzathandiza wodwalayo kugwiritsa ntchito minofu yawo.

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Zida za Spinal Muscular Atrophy - SMA

Kuyezetsa magazi kwa SMA

• Molecular Diagnostic Laboratory ku University of Ohio State
• Laboratory Molecular Pathology Laboratory ku Yunivesite ya Pennsylvania Health System

Kuti Upeze Zambiri Zambiri - Zambiri ndi Zigawo

• Mabanja a Spinal Muscular Atrophy
• Muscular Dystrophy Association
• Zowona za Breathing Process
• ADAM Health Care Center pa Spinal Muscular Atrophy

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Spinal Muscular Atrophy - SMA - Kuwerenga

1 Kusindikiza Kotsogolera Dokotala. Mayesero Okhudzana ndi Zopereka Zoperekera Tsopano Akupezeka Kwa Spinal Muscular Atrophy. 6.2.97 Kuchotsedwa pa 1 August, 2006.
Chipatala cha Ana 2 cha Philadelphia. Thanzi Lanu la Ana - Spinal Muscular Atrophy. Inabweretsedwa pa August 1, 2006.
3 Tsao, Brian, MD, Stojic, Andrey, MD, PhD. eMedicine.com Spinal Muscular Atrophy 6.8.06. Inabweretsedwa pa August 1, 2006.
3 Muscular Dystrophy Association. Mfundo Zokhudza Zam'mimba Zamtundu Wamtundu Womwe Zimatulutsidwa pa August 1, 2006.
3 Mabanja a Zam'mimba Zamtundu wa Atrophy Matenda a Zamankhwala Akubwezeretsedwanso August 1, 2006.
4 NINDS Zamphepete Zam'mimba Zamthambo Page 6.26.06. Inabweretsedwa pa August 1, 2006.