Matenda a msana

Spinal muscular atrophy (SMA) ndi gulu lazovuta zama motor motor (ma cell motor). Matendawa amapitilira kudzera m'mabanja (obadwa nawo) ndipo amatha kuwonekera pagawo lililonse la moyo. Matendawa amachititsa kuti minofu ifooke komanso kuti iwonongeke.

SMA ndi matenda osiyanasiyana amanjenje. Pogwirizanitsidwa pamodzi, ndicho chachiwiri chomwe chimayambitsa matenda obadwa nawo a neuromuscular, pambuyo pa Duchenne muscular dystrophy.

Nthawi zambiri, munthu amayenera kupeza jini lolakwika kuchokera kwa makolo onse kuti likhudzidwe. Mawonekedwe ovuta kwambiri ndi mtundu wa SMA I, wotchedwanso matenda a Werdnig-Hoffman. Makanda omwe ali ndi mtundu wachiwiri wa SMA amakhala ndi zizindikilo zochepa kuyambira ali akhanda, koma amakhala ofooka pakapita nthawi. SMA mtundu wachitatu ndi matenda oopsa kwambiri.

Nthawi zambiri, SMA imayamba munthu atakula. Uwu ndiye mtundu wofatsa kwambiri wamatendawa.

Mbiri yakubanja la SMA mwa wachibale wapabanja (monga m'bale kapena mlongo) ndiwowopsa pamitundu yonse yamatenda.

Zizindikiro za SMA ndi izi:

• Makanda omwe ali ndi mtundu wa SMA Ndimabadwa ndimisempha yochepa, minofu yofooka, ndimavuto odyetsa komanso kupuma.
• Ndi mtundu wachiwiri wa SMA, zizindikilo sizingawonekere mpaka zaka 6 mpaka zaka 2.
• Type III SMA ndimatenda okhwima omwe amayamba muubwana kapena unyamata ndipo pang'onopang'ono amawonjezeka.
• Mtundu wachinayi ndiwofatsa, ndipo kufooka kumayambira munthu wamkulu.

Nthawi zambiri, kufooka kumamveka koyamba m'mapewa ndi m'miyendo. Kufooka kumakulirakulirabe pakapita nthawi ndipo pamapeto pake kumakula.

Zizindikiro mu khanda:

• Kupuma movutikira ndi kupuma pang'ono komanso kupumira movutikira, zomwe zimapangitsa kuti mpweya usakhalepo
• Kuvuta kwakudya (chakudya chitha kulowa pachipepele m'malo mmimba)
• Floppy khanda (kusalankhula bwino kwa minofu)
• Kupanda kuwongolera mutu
• Kuyenda pang'ono
• Kufooka komwe kumakulirakulirabe

Zizindikiro mwa mwana:

• Matenda opatsirana pafupipafupi
• Kulankhula m'mphuno
• Kaimidwe kamene kamafika poipa

Ndi SMA, mitsempha yomwe imayendetsa kumverera (mitsempha yam'mimba) sikukhudzidwa. Chifukwa chake, munthu amene ali ndi matendawa amatha kumva zinthu bwinobwino.

Wopereka chithandizo chamankhwala adzalemba mosamalitsa ndikuchita kafukufuku wamaubongo / wamanjenje (neurologic) kuti adziwe ngati pali:

• Mbiri ya banja la matenda amanjenje
• Floppy (flaccid) minofu
• Palibe malingaliro ozama amtundu
• Kupindika kwa lilime

Mayeso omwe atha kulamulidwa ndi awa:

• Mayeso a Aldolaseblood
• Mlingo wa sedimentation wa erythrocyte (ESR)
• Pangani mayeso a magazi a phosphate kinase
• Kuyesa kwa DNA kutsimikizira kuti ali ndi matenda
• Electromyography (EMG)
• Lactate / pyruvate
• MRI yaubongo, msana, ndi msana
• Kutulutsa minofu
• Kuphunzira kwamitsempha
• Mayeso amino acid magazi
  
• Mayeso a magazi otulutsa chithokomiro (TSH)

Palibe mankhwala ochizira kufooka komwe kumadza chifukwa cha matendawa. Thandizo lothandizira ndilofunika. Zovuta zopumira ndizofala munthawi zovuta kwambiri za SMA. Pofuna kupuma, pamafunika chida kapena makina otchedwa mpweya wabwino.

Anthu omwe ali ndi SMA amafunikiranso kuyang'aniridwa chifukwa chotsamwa. Izi ndichifukwa choti minofu yomwe imayendetsa kumeza ndi yofooka.

Thandizo lakuthupi ndilofunika kuti muchepetse kutsekeka kwa minofu ndi minyewa komanso kupindika modzidzimutsa kwa msana (scoliosis). Kuwongolera kungafunike. Kuchita opaleshoni kungafunikire kukonza zolakwika zamatenda, monga scoliosis.

Mankhwala awiri ovomerezeka posachedwa a SMA areonasemnogene abeparvovec-xioi (Zolgensma) ndi nusinersen (Spinraza). Mankhwalawa amagwiritsidwa ntchito pochiza mitundu ina ya SMA. Lankhulani ndi omwe amakuthandizani kuti muwone ngati imodzi mwa mankhwalawa ndi yoyenera kwa inu kapena mwana wanu.

Ana omwe ali ndi mtundu wa SMA sindimakhala ndi moyo nthawi yayitali kuposa zaka 2 mpaka 3 chifukwa chamavuto opumira komanso matenda. Nthawi yopulumuka ndi mtundu wachiwiri ndiyotalikirapo, koma matendawa amapha ambiri mwa iwo omwe amakhudzidwa akadali ana.

Ana omwe ali ndi matenda amtundu wachitatu amatha kupulumuka kufikira atakula. Koma, anthu omwe ali ndi mitundu yonse yamatenda ali ndi kufooka komanso kufooka komwe kumawonjezeka pakapita nthawi. Akuluakulu omwe amakhala ndi SMA nthawi zambiri amakhala ndi chiyembekezo chokhala ndi moyo.

Zovuta zomwe zingabwere kuchokera ku SMA ndi izi:

• Kutentha (chakudya ndi madzi zimalowa m'mapapu, ndikupangitsa chibayo)
• Zosiyanitsa zaminyewa ndi matumbo
• Mtima kulephera
• Scoliosis

Itanani omwe akukuthandizani ngati mwana wanu:

• Zikuwoneka zofooka
• Amakhala ndi zizindikiro zina za SMA
• Amavutika kudyetsa

Vuto lakupumira limatha kukhala vuto ladzidzidzi.

Upangiri wamtunduwu umalimbikitsidwa kwa anthu omwe ali ndi mbiri yabanja ya SMA omwe akufuna kukhala ndi ana.

Matenda a Werdnig-Hoffmann; Matenda a Kugelberg-Welander

• Minofu yakunja yakunja
• Scoliosis

Fearon C, Murray B, Mitsumoto H. Zovuta zam'mitsempha yamagalimoto apamwamba ndi otsika. Mu: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, olemba. Neurology ya Bradley mu Kuchita Zachipatala. Wachisanu ndi chiwiri. Philadelphia, PA: Elsevier; 2016: chap 98.

Haliloglu G. Spinal muscular atrophies. 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: chap 630.2.

Tsamba la NIH Genetics Home Reference. Matenda a msana. ghr.nlm.nih.gov/condition/spinal-muscular-atrophy. Idasinthidwa pa Okutobala 15, 2019. Idapezeka Novembala 5, 2019.