Spinal tsandanyama atrophy: Zviratidzo neMarapirwo

Spinal tsandanyama atrophy kunooneka pacharo mu muduku. Zviratidzo zvokutanga kuonekwe kare 2-4 mwedzi zera. Iri nhaka chirwere iyo kunoratidzwa yokuti muuropi hunde masero etsinga zvishoma nezvishoma kufa.

nemhando matambudziko

Zvichienderana kana zviratidzo yokutanga chirwere, kukuvadza uye hunhu kuyerera atrophic kuchinja kudoma mhando dzakawanda zvirwere.

Spinal tsandanyama atrophy anogona ichishanduka:

- wokutanga mhando: chakasimba (Form Verdiga-Hoffmann);

- wechipiri mhando: zvenguva (infantile, refu);

- mhando rwechitatu chimiro Kugelberg-Welander chirwere (chirwere, hwanana).

mhando nhatu chete zvirwere inomuka ne kubvuma nenyanzvi nokuda zvakasiyana kunotouraya imwe chete Gene. Spinal tsandanyama atrophy chinhu autoimmune chirwere kuti kunoitika apo nhaka vaviri recessive majini mumwe kubva mubereki mumwe,. Mutational mugove 5 uri chromosome. It aripo ose 40 vanhu. Majini anokonzera yeEncoding imwe puroteni kuti kunovimbisa kuvapo injini Tutsinga tunofambisa mashoko utwu ari musana. Kana izvi zviri kwakakanganiswa, ivo Tutsinga tunofambisa mashoko utwu kufa.

Verdin-Hoffmann chirwere

Chifungidziro dambudziko kunogona kuva panguva yepamuviri. Kana mwana ave musana tsandanyama atrophy mhando 1, chinowanzoonekwa akacherechedza usimbe uye mushakabvu fetus kufamba panguva yepamuviri. Ndasununguka, vanachiremba vanogona rokuongorora generalized hypotonia tsandanyama.

Atrophy kutanga azviise mwedzi upenyu chokutanga. Kazhinji iri proximal pfungwa fascicular twitching tsandanyama zviri shure, hunde, migumo. Vakacherechedzawo uye bulbar zvirwere. Izvi zvinosanganisira murombo anomwa, simba rokuchema, havachanyatsogoni kumedza. Vana vane chirwere kazhinji Verdin-Hoffmann akaona kuderera ari kurutsa, chikosoro, pharyngeal, palatal hunenge. Vanoonawo fibrillation kwomutauro tsandanyama.

Asi handizvo zvose zviratidzo nawo musana tsandanyama atrophy kunogona tsunga. Zviratidzo manyorerwo chirwere mhando 1 anosanganisira utera uye intercostal tsandanyama. In bhokisi ichi sokunge munhu flattened vana.

Mumwedzi zvoupenyu wokutanga, vana vakadaro kazhinji kutambura kufema utachiona, mabayo uye zvakafanana zvinangwa.

Chirwere chirwere Verdin-Hoffmann

Kuziva chirwere zvinogoneka kana kuongorora mwana. Pane zvinhu zvinoverengeka kurapwa zviratidzo izvo nyanzvi vanogona kuona kuti mwana nhaka musana tsandanyama atrophy. Kuongorora chirwere zvinosanganisira:

- nokukanganisika Kuongororwa kweropa (zvichava kuonekwa zvishomanana kuwedzera creatinine phosphokinase uye aldolase);

- electromyographic kudzidza (kukundwa pamusoro Anterior nyanga musana kuchaita kuratidza mutinhimira pamusoro stockade);

- histological kuongorora skeletal tsandanyama (vanozivikanwa masumbu woita faibha diki).

Musana Microscopy (ayo Anterior nyanga) inoratidza kuti pane chinopedza kuchinja ari injini nuclei ose cranial tsinga. Pane globular kuzvimba uye / kana shrinkage kuti injini masero, microglial uye astrocytic kuwanda hromatolizis. Izvi zvinonzi aine chimiro glial batana fibers.

Zvakakosha kuti differential chirwere kuti asava makemikari aciduria, vachiberekwa myopathy kana muenzaniso STRUCTURAL pemalinovuyu, miotubulyarnuyu myopathy kana chirwere ari nechepakati tsvimbo.

Kufembera atrophy mhando I

Zvichienderana rwakadini kukuvadzwa, Verdin-Hoffmann chirwere kungazviratidza mumazuva okutanga pashure pokuberekwa. Nyanzvi kunyange mamiriro ezvinhu mwana anogona vakafunga kuti ane musana tsandanyama atrophy. Photos of vacheche akafanana: vanovandira mu datya pozi. Mbabvu ari muhudyu uye pamafudzi majoini kunge vanotsaura, uye kugokora uye ibvi - guda.

Wokutanga kutambura dziri proximal nechepazasi richiripo tsandanyama. Muitiro rokuparadzwa anoenda pamusoro uplink. With kuchiita hosha kunokanganisa tsandanyama ari dokeriro uye pharynx. Zvinoitika kuti hosha hworatidza pacharo paya. Asi muganhu ndiyo makore 6 mwedzi. Vana vanogona kunyange kutanga kusimudza musoro wake uye vagokungurusa pamusoro, asi havana kugara pasi.

vacheche Most kufa mwoyo, kufema kukundikana, kana kutapukirwa pagore upenyu rokutanga. Vanopfuura 70% yevana vanofa vasati 2 years. Kusvika 5 makore kurarama vanenge 10% vana ava.

Atrophy Type II

Mune zvimwe zviitiko, pangava nezvimwe zvingangoitwa. Spinal tsandanyama atrophy mhando 2 rinowanika zvishoma paya. Kazhinji zviratidzo okutanga kuchengetwa makore 8-14 mwedzi. Nokuti vana ava hunhu iri generalized tsandanyama simba uye hypotonia.

About chirwere anoratidza thinned minwe kuonekwa fascicular chakamira pakunodengenyeka zvine ari tsandanyama ari proximal maoko nemakumbo, ari nyore. vana vakadaro vane nguva dzose pakukura. Vari akapinza zera dzinotanga kuchengeta musoro wako, ugare pasi. Asi kwete kutaura pamusoro nokuzvidzora vachifamba.

Vana vanogona muchayamwa uye kumedza anowanzoita, mangwanani mucheche kufema nerevane haina kuremara. Asi nokufamba kwenguva, tsandanyama simba inotanga mberi. Pana mazera vakura, pane pakuparadza nematambudziko, pane nasal inzwi. Chimwe ndicho matambudziko ari varwere chinokosha upenyu anotarisirwa ndiyo scoliosis.

The fungidziro kuti mhando II atrophy

Pasinei nokuti mwana anogona kukura anowanzoita panguva yokutanga mwedzi, mamiriro ezvinhu ari kuipa pamwe nguva. Pakazosvika makore vana vaviri zvisipo Mbabvu mudzira hunenge. In dzakafanana, ari intercostal tsandanyama kuneta. Somugumisiro, mashoko thorax iri flattened, kunonoka gwenya kukura anooneka.

25 chete% vana vave nechirwere musana tsandanyama atrophy, pachavo chaangagarira kana kumira nokutsigira. Gare gare nzendo chirwere inozivikanwa chitarisiko kyphoscoliosis. Vana vakawanda vanofa pakati pemakore 1 uye 4 makore. Vakawanda zvinokonzera rufu vari nemabayo kana kufema tsandanyama kukundikana.

Kana iwe kuisa chirwere Spinal tsandanyama atrophy zvinokosha kuti differential chirwere pamwe vachiberekwa kana STRUCTURAL myopathies, palsy atonic-astatic mhando.

Vanopfuura 70% wevarwere kurarama makore anodarika maviri. The hunotarisira vana ava muupenyu kumativi 10-12 makore.

Kugelberg-Welander chirwere

Kupfuura zvakanaka fungidziro pavarwere avo nechirwere musana tsandanyama atrophy mhando III. Inogona makore makore 20. Kakawanda kuratidzwa rekutanga pana makore 2-7. Wokutanga kutambura proximal tsandanyama ari chiuno.

Varwere kuomerwa kufamba, kumhanya, achifumira kubva squatting nechinzvimbo uye kudiwa vaikwira nezvikwiriso. Zvinokosha kuyeuka kuti kurapwa zvinoratidza chirwere chimiro ichi zvakafanana mberi dystrophy Becker.

Proximal zvikamu maoko uye fudzi bhanhire kunokanganisa makore mashomanana pashure zviratidzo chirwere wokutanga. Nokufamba kwenguva, mashoko akaremara thorax rinowanika fascicular tremor maoko uye kusingadzoreki marwadzo hwemapoka tsandanyama zvakasiyana. Izvi zvinoderedza mudzira hunenge uye kutanga kufambira mberi mapfupa deformation. Changes bhokisi, tsoka, zviziso zvemakumbo, scoliosis pamusoro muzongoza rinowanika.

The fungidziro chirwere mhando III

Kugelberg-Welander chirwere - iri musana tsandanyama atrophy vakuru. Chirwere kwemakore akawanda, vanoverengeka complicating upenyu varwere, asi haitungamiriri zvavo zvikuru vakaremara. It mberi zvishoma nezvishoma. Naizvozvo, vanhu vakawanda vane chirwere ichi achararama kwacho.

Asati kurapwa zvinokosha kuti differential chirwere dzakashongedzwa tsandanyama dystrophies, glycogen okuchengetera chirwere mhando 5 uye STRUCTURAL myopathies. Pane nzira dzatinogona kuona musana atrophy. Uyu rakananga DNA Diagnostics. Zvinokosha, nokuti kurapwa zvinoratidza chirwere, Kugelberg-Welander chirwere unogona siyana.

Inenge 50% wevarwere havachakwanisi kufamba makore 12. Kana ichi tsandanyama simba mberi nezera chete. Akacherechedza hypermobility uye vadyi contractures, pane mikana yakawanda mitswe.

zvinokosha zvenhaka

Kazhinji, chirwere Verdin Hoffmann-chirwere yokutanga mishomanana upenyu. Kana mwana asina kufamba kubva pakuzvarwa, hazvina kurarama kunyange anomwedzi.

Kuneta uye tsandanyama marwadzo kuchangotanga, ruoko tremor uye kunonoka gwenya kukura, uye tinofanira kuona vanachiremba uye vabereki. vana ava regai ndimire netsoka dzayo. chikamu chimwe muzvina varwere vose chete anogona kumira nokutsigira. Kids muwiricheya.

Asi chinonetsa kuziva chirwere, Kugelberg-Welander. Mushure kota wevarwere vakaratidza mhasuru hypertrophy. Saka, vanogona zvisizvo kuti nechirwere chinonzi dystrophy, panzvimbo musana tsandanyama atrophy. The zvinokonzera chirwere ichi zvakatangwa muna 1995, apo zvaigoneka kuziva mutated Gene SMN. Anenge zvose varwere homozygous deletion kunoitika SMN7, inozivikanwa nokurasikirwa telomeric makopi maviri majini uye yakasimba centromeric maBhaibheri.

nzira kurapwa

Zvinosuruvarisa musana tsandanyama atrophy chiri autoimmune chirwere, chisingafaniri kushanda kudzivirira kukura. Complicating zvinhu ndechokuti hapana chaicho kurapwa.

Mune zvimwe zviitiko, vanachiremba chete kutenga zvimwe kuzorora kubva ezvinhu varwere tichibatsirwa physiotherapy. Kuvandudza upenyu hwavo nokuda dzakananga vachibatsira midziyo yemagetsi.

Cherechedzai inofanira kubhadharwa kuti zvokudya varwere dzakadaro. Anowanzonzi ushandiswe mishonga anogona kuvandudza muviri. Asi kwete kuti zvose zvinogona kuitwa kana musana tsandanyama atrophy rwukasimbiswa. Treatment kunoratidzwa kugadzwa jimunasitikisi. basa rinoda kunokosha kuti varwere izvi. Ndivo zvakakodzera kuitira kuvandudza kushanda tsandanyama uye vawedzere uremu hwavo. Zvisinei, mutoro inofanira dzaona nachiremba wako. Muchiitiko chino, dzidzo muviri rinobatsira kukanganisa muviri wose. Its tonic nezvinozoitika pachena. Inogona kuva kuchirapa kana Utsanana mangwanani jimunasitikisi, muviri mumvura kana chete bracing masaja.