Spinal mhasuru atrophy

Spinal muscular atrophy (SMA) iboka rekushushikana kwemota neurons (mota maseru). Aya matambudziko anopfuudzwa kuburikidza nemhuri (nhaka) uye anogona kuoneka pane chero nhanho yehupenyu. Iyo kusagadzikana kunotungamira kune mhasuru kushaya simba uye atrophy.

SMA muunganidzwa wezvirwere zvakasiyana zvemota. Akabatanidzwa pamwe chete, ndicho chechipiri chinokonzera chikonzero chekugara nhaka neuromuscular chirwere, mushure meDuchenne muscular dystrophy.

Kazhinji yenguva, munhu anofanirwa kuwana rakaremara jeni kubva kuvabereki vese kuti ribatwe. Fomu rakanyanya kuomarara iSMA yerudzi rweI, inonziwo chirwere cheWerdnig-Hoffman. Vacheche vane SMA mhando II vane zvishoma zvakanyanya zviratidzo panguva yekutanga kweucheche, asi ivo vanoshaya simba nekufamba kwenguva. SMA mhando III isiri yakanyanya fomu yechirwere.

Muzviitiko zvisingawanzoitika, SMA inotanga mukukura. Iyi ndiyo fomu yakapfava yechirwere.

Nhoroondo yemhuri yeSMA mune yepedyo nhengo yemhuri (senge mukoma kana hanzvadzi) ndiyo njodzi njodzi yemarudzi ese echirwere.

Zviratidzo zveSMA ndezvi:

• Vacheche vane mhando yeSMA Ini ndinozvarwa ndisina toni tudiki, mhasuru dzisina kusimba, uye kudya uye nekufema matambudziko.
• NeSMA yerudzi rwechipiri, zviratidzo zvingasaratidzika kusvika zera remwedzi mitanhatu kusvika pamakore maviri.
• Type III SMA chirwere chinotetepa chinotanga muhudiki kana kuyaruka uye zvishoma nezvishoma chichiwedzera kuipa.
• Type IV yakatowanda, iine utera hunotangira mukukura.

Kazhinji, kushaya simba kunotanga kunzwika mumapfudzi uye musuru wemakumbo. Kushaya simba kunowedzera nekufamba kwenguva uye pakupedzisira kunova kwakanyanya.

Zviratidzo mumucheche:

• Kufema kunetseka nekufema kwekufema uye kufema kufema, zvichikonzera kushomeka kwe oxygen
• Kudyisa kuomesa (chikafu chinogona kupinda mupepuru panzvimbo yedumbu)
• Floppy mucheche (murombo mhasuru toni)
• Kusava nekutonga kwemusoro
• Kufamba kudiki
• Kushaya simba kunowedzera

Zviratidzo mumwana:

• Kazhinji, inowedzera zvakanyanya hutachiona hwehutachiona
• Nasal kutaura
• Mamiriro anowedzera kuwedzera

NeSMA, tsinga dzinodzora kunzwa (tsinga dzetsinga) hadzivhiringidzike. Saka, munhu ane chirwere anogona kunzwa zvinhu zvakajairika.

Anopa hutano anotora nhoroondo yekungwarira uye oita huropi / huta hurongwa (neurologic) kuongorora kuti uone kana paine:

• Nhoroondo yemhuri yeurouromuscular chirwere
• Floppy (flaccid) mhasuru
• Kwete yakadzika tendon inofungidzira
• Kugwinha kwerurimi mhasuru

Miedzo inogona kurairwa inosanganisira:

• Aldolaseblood bvunzo
• Erythrocyte sedimentation chiyero (ESR)
• Gadzira phosphate kinase ropa bvunzo
• DNA kuyedza kuratidza kuongororwa
• Electromyography (EMG)
• Lactate / pyruvate
• MRI yeuropi, musana, uye musana
• Tsvina biopsy
• Tsinga kuitisa kudzidza
• Amino acid yeropa bvunzo
  
• Utachiona-hunosimudzira mahormone (TSH) bvunzo yeropa

Iko hakuna kurapwa kwekurapa kushaya simba kunokonzerwa nechirwere. Kuchengetedza kwekutsigira kwakakosha. Kufema kunetsa kunoitika mune akanyanya kuomarara mafomu eSMA. Kubatsira nekufema, chishandiso kana muchina unonzi mweya wekufema ungangodiwa.

Vanhu vane SMA vanodawo kutariswa nekukachidzwa. Izvi zvinodaro nekuti mhasuru dzinodzora kumedza hadzina simba.

Kurapa kwepanyama kwakakosha kudzivirira kupokana kwemhasuru uye tendon uye kupindika kusingaite kwemuzongoza (scoliosis). Kubata kunogona kudikanwa. Kuvhiya kunogona kudikanwa kugadzirisa maronda akaremara, senge scoliosis.

Mishonga miviri ichangobva kubvumidzwa yeSMA areonasemnogene abeparvovec-xioi (Zolgensma) uye nusinersen (Spinraza) .Mishonga iyi inoshandiswa kurapa mamwe marudzi eSMA. Taura nemupi wako wezvehutano kuti uone kana imwe yemishonga iyi yakakunakira iwe kana mwana wako.

Vana vane SMA mhando Ini kashoma kurarama kwenguva inopfuura makore maviri kusvika matatu nekuda kwezvinetso zvekufema uye hutachiona. Nguva yekupona nerudzi rwechipiri yakareba, asi chirwere ichi chinouraya vazhinji veavo vanokanganiswa vachiri vana.

Vana vane chirwere chetatu III vanogona kurarama mukukura kwavo kwekutanga. Asi, vanhu vane mhando dzese dzechirwere vane kushaya simba uye kushomeka kunowedzera nekufamba kwenguva. Vakuru vanokudziridza SMA vanowanzo kuve neyakajairwa tarisiro yehupenyu.

Matambudziko anogona kukonzerwa neSMA anosanganisira:

• Aspiration (chikafu nemvura zvinopinda mumapapu, zvichikonzera mabayo)
• Cont contraction yemhasuru uye tendon
• Kutadza kwemoyo
• Scoliosis

Fonera mupiki wako kana mwana wako:

• Inoonekwa isina kusimba
• Inovandudza chero zvimwe zviratidzo zveSMA
• Ane dambudziko rekudyisa

Kufema kunetseka kunogona kukurumidza kuve mamiriro ekukurumidzira.

Genetic counselling inokurudzirwa kune vanhu vane nhoroondo yemhuri yeSMA vanoda kuita vana.

Chirwere cheWerdnig-Hoffmann; Kugelberg-Welander chirwere

• Mashura epamberi epamusoro
• Scoliosis

Fearon C, Murray B, Mitsumoto H. Kukanganisika kwepamusoro uye wezasi mota mauroni. Mune: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, eds. Bradley's Neurology muClinical Dzidzira. 7th ed. Philadelphia, PA: Elsevier; 2016: chits. 98.

Haliloglu G. Spinal tsandanyama atrophies. Mune: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Chinyorwa chePediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020: chits. 630.2.

NIH Genetics Imba Referensi webhusaiti. Spinal mhasuru atrophy. ghr.nlm.nih.gov/condition/spinal-muscular-atrophy. Yakagadziridzwa Gumiguru 15, 2019. Yakasvika munaNovember 5, 2019.