Lafdhabarta muruqa atrophy: Calaamadaha iyo Daaweynta

atrophy muruqa ah laf-dhabarta u muuqato in carruurnimada hore. Calaamadaha ugu horeeya ayaa laga yaabaa inuu sida ugu horreysa ee 2-4 bilood jir. Tani waa cudur dhaxlo oo waxa lagu gartaa xaqiiqada ah in unugyada neerfaha stem maskaxda si tartiib tartiib ah u dhintaan.

noocyada kala duwan ee dhibaatooyinka

Iyada oo ku xidhan markii koowaad ee lagu garto cudurka, darnaanta iyo nooca socodka isbedel Atrophic aqoonso dhawr nooc oo ah cudurada.

atrophy muruqa ah lafdhabarta xuubsiiban karo:

- Nooca koowaad: ba'an (Form Verdiga-Hoffmann);

- nooca labaad: dhexe (carruurta, chronic);

- Nooca saddexaad: cudurka foomka Kugelberg-Welander (chronic, dhallinta).

Saddex nooc oo ka mid ah cudurada isla kici by xirfadlayaasha malo ay sabab u tahay Isbedelo kala duwan ee ka mid ah iyo hiddo isku. atrophy muruqa ah laf-dhabarka waa cudur, shalalka in uu dhacaa marka dhaxal laba hiddo recessive, mid ka waalid kasta. qayb Mutational 5 waa in koromosoomyada ah. Oo waa hadiyad in 40 qof kasta. hiddo mas'uulka ka ah habaynteeda protein ah in ay hubisaa in jiritaanka neurons motor ee laf dhabarta. Haddii habka this waxaa la carqaladeeyey, neurons dhiman.

cudurka Verdin-Hoffmann

Ka shakisan tahay dhibaato noqon kartaa inta aad uurka leedahay. Haddii ilmuhu yeesho spinal muruqa atrophy type 1, waxaa inta badan lagu arkay dhaqdhaqaaqa uurjiifka daalid iyo dabayaaqadii xilliga uurka. dhalashada ka dib, dhakhaatiirta aqoonsan karaa murqaha summer guud.

Atrophy bilaabaan in ay u muuqdaan in bilood ee ugu horreeya ee nolosha. Inta badan ee barta proximal fascicular shimbirka ka mid ah muruqyada dhabarka, jirridda, jirka. Sidoo kale arkay iyo cudura bulbar. Kuwaas waxaa ka mid caanonuug masaakiinta, qaylada kuwa itaalka yar, liqidda oo yaraada. Carruurta qabta cudurka inta badan Verdin-Hoffmann xusay hoos matag, qufac, pharyngeal, hummaag palatal. Waxay sidoo kale ogsoonow aamba muruqyada luqadeed.

Laakiin sidaas maaha oo dhan calaamadaha by taas oo atrophy muruqa spinal la go'aamin karaa. Astaamaha caan nooca cudurka 1 ka mid ah muruqyada yeelay Tabaryari iyo intercostal. In xabadka this u eg a kids simay.

In bilood ee hore ee nolosha, caruurta sida inta badan xanuunsado tan iyo caabuqyada neef, pneumonia iyo hadafka caadi ah.

Cilad cudurka Verdin-Hoffmann

Go'aanso cudurka waa suurto gal ah haddii la baaro ilmaha. Waxaa jira tiro ka mid ah calaamadaha lagu daawayn taas oo xirfadlayaasha go'aan ka gaari kara in ilmaha dhaxlay atrophy muruqa spinal. Cilad-ka mid ah:

- Falanqaynta lagmamaarmaanna u ah dhiig (waxaa loo arki doonaa koror yar ee phosphokinase kariyaatiniin iyo aldolase);

- Daraasad electromyographic (guuldaradii of geesihii jilibka ah laf-dhabarta tilmaami doonaa laxanka ee oodfada);

- baaritaan histological ee murqaha lafaha (aqoonsaday rucubood oo fiber yar fekrado).

laf-dhabarta Microscopy (geeska jilibka ay) ayaa muujinaya in ay jiraan isbedel side in nuclei motor of dareemayaasha cranial ah. Waxaa jira barar globular iyo / ama yaraanshaha unugyada motor, microglial iyo badashada astrocytic, hromatolizis. ifafaale waxaa weheliya muuqaalka macdantaa glial cufan.

Waa muhiim in la ogaado faraqa ah in laga saaro Aciduria organic, myopathy lagu dhasho ama tusaale ahaan pemalinovuyu dhismaha, myopathy miotubulyarnuyu ama cudur ushii dhexe.

Saadaasha nooca atrophy aan

Iyadoo ku xiran xaddiga burburka, cudurka Verdin-Hoffmann tari kartaa maalmaha ugu horreeya dhalashada ka dib. Khubarada xitaa on xaaladda ilmaha la malaysan karo in uu leeyahay atrophy muruqa spinal. Photos of ilmaha la mid yihiin: waxay gaadaan rihii bandhig. Addimada kala goysyada misigta iyo garbaha ayaa iska dhigo, oo suxulka iyo jilibka - laaban yihiin.

The first to xanuunsado ku yaalaan proximal muruqyada addinka hoose. Geedi socodka ah ee burburinta tagaa on uplink ah. Iyadoo horumarka cudurka saamayn ku jiraa muruqyada oo ka mid ah dhuun iyo dalqada. Waxaa dhacaya in cudurka laftiisa ka dib teedu. Laakiin soohdinta waa da'da 6 bilood. Carruurta xitaa bilaabi karaan in madaxiisa ugu qaadin oo laga rogo in ka badan, laakiin marnaba kama fadhiiso.

Ilmaha inta dhiman wadnaha, neefta ka, ama cudurada faafa ee sannadka ugu horreeya nolosha. In ka badan 70% carruurta dhiman ka hor 2 sano. Illaa 5 sano jir oo ku nool saabsan 10% ka mid ah carruurta.

Atrophy Nooca II

Xaaladaha qaarkood, waxaa laga yaabaa in xaalado kale. Lafdhabarta muruqa atrophy nooca 2 muuqataa xoogaa ka dib. Caadi ahaan calaamadaha u horeeya waxa lagu arkay da'da 8-14 bilood. Wixii kids kuwaas oo sifo waxaa guud tabar-dari muruq iyo summer.

About cudurka tilmaamaya faraha thinned muuqashada gariir fascicular in muruqyada ah addimada proximal, in faraha ka. carruurta noocan oo kale ah waxay leeyihiin muddo ah koritaanka caadiga ah. Ay ku jiraan da'da shubtaa bilaabaan inay madaxa xajiyaan, fadhiistaan. Laakiin ma la hadlayo ku saabsan is-socodka.

Carruur bay nuujin kartaa oo way liqi doonaan sida caadiga ah, goor hore shaqada neefsashada dhallaan aan si daciif ah. Laakiin muddo ka dib, tabar-dari muruq uu bilaabo inuu horumar. At da'doodu ka weyn, waxaa jira dhibaatooyin liqidda, waxaa jira midab sanka of cod. Mid ka mid ah dhibaatooyinka ugu badan ee bukaannada qaba cimri weyn nolosha waa qalooca.

saadaasha The nooca II atrophy

In kasta oo xaqiiqda ah in ilmuhu horumar ku samayn karaa si caadi ah inta lagu guda jiro bilood ee ugu horreeya, xaalada ay ka sii dareyso waqti. By da'da laba carruur maqan addimada hummaag seed. In isku midka ah, muruqyada intercostal ku buriyaan. Sidaas darteed, thorax la simay, horumarinta motor dib u muuqataa.

% Oo keliya ayaa 25 ka mid ah caruurta ayaa laga helay atrophy muruqa spinal, isu fadhiisan karaa ama la taageero taagan. Marxaladaha dambe ee cudurka lagu gartaa kyphoscoliosis muuqaalka. Caruur badan ayaa u dhiman da'doodu 1 iyo 4 sano inta u dhaxaysa. Sababaha ugu badan ee dhimashada waa pneumonia ama neefsashada failure muruqa.

Marka aad rakibi cudurka atrophy muruqa laf lagama maarmaan ah si loo soo ogaado faraqa la myopathies lagu dhasho ama dhismaha, nooca atonic-astatic of cerebral palsy ah.

In ka badan 70% ka mid ah bukaannada ku nool yihiin in ka badan laba sano. Filashada The nolosha carruurta waa agagaarka 10-12 sano.

cudurka Kugelberg-Welander

saadaasha The wanaagsan ugu badan ee dadka bukaanka ah kuwaas oo laga helay nooc atrophy muruqa spinal III. Waxaa da'diisu kartaa ilaa 20 sano. Inta badan muujinta koowaad waxaa la diiwaan at da'da 2-7 sano. Midkii kowaad wuxuu u xanuunsataan, muruqyada proximal ee miskaha.

Bukaan-socodka dhibaato ku socodka, orodka, ka booska kadalloobo ah iyo baahida loo qabo Koridda jaranjaro goor wanaagsan. Waxaa haboon in la xasuusnaado in daliilka kiliinikada ee cudurka foomkan la mid tahay Dystrophy horusocod Becker.

qaybo Proximal ee gacmaha iyo dhex-xidh garabka saameeyaa oo kaliya dhowr sano ka dib markii koowaad ee lagu garto cudurka. Waqti ka, thorax ee ay maroorsamaan muuqataa gariirka fascicular gacmaha iyo foosha ku caasiyoobay kooxo kala duwan ee murqaha. Tani waxa ay yaraynaysaa hummaag seed iyo bilaabaan horumar lahayo ku lafaha. xabadka Isbedelada, cagaha, kuraamaha, qalooca-dhabarta u muuqataa.

saadaasha ee nooca cudurka III ah

cudurka Kugelberg-Welander - waa laf-dhabarta dadka waaweyn atrophy muruqa ah. Cudurku wuxuu sanado badan, dhowr complicating nolosha bukaannada, laakiin ma noqonin mid horseeda in ay naafo daran. Waxaa si tartiib tartiib ah uga sii darayo. Sidaa darteed, dadka intooda badan la cudurka this ku nool qaangaarnimada.

Ka hor inta daaweyn waa muhiim in la ogaado faraqa la dystrophies kala duwan muruqa ah, cudur kaydinta glycogen nooca 5 iyo myopathies dhismaha ah. Waxaa jira hab by taas oo aan go'aan ka gaari kara atrophy spinal. Tani waa a Baadhista DNA si toos ah. Waxaa lagama maarmaan ah, maxaa yeelay, daliilka kiliinikada ee cudurka, cudurka Kugelberg-Welander kala duwanaan karaan.

Qiyaastii 50% bukaanada waayi awood u leh inay ku socdaan 12 sano. Marka tabar-dari muruq this soconayo da'da kaliya. hypermobility fiirsanayo iyo contractures wadajir ah, waxaa jira halis dheeraad ah oo jab ah.

Tilmaamo muhiim ah

Sida caadiga ah, cudurka Verdin Hoffmann-ogaadaa in bilaha nolosha ugu horreeya. Haddii ilmuhu uu leeyahay dhaqdhaqaaqa ma laga bilaabo dhalashada, waxa aanu ku noolayn ilaa bil jir ah.

Tabar iyo muruqa in yaraantaadii ay, gariirka gacanta iyo horumarinta motor raagay, iyo feejignaan dhakhaatiirta iyo waalidiinta. Carruurtan ha istaagto cagaheeda. rubuc ka mid ah bukaanada oo dhan oo kaliya ayaa la taageero istaagi kara. Kids lagu wadaa kursi.

Laakiin ugu adag in la ogaado cudurka, Kugelberg-Welander. Ka dib markii rubuc ka mid ah bukaanka ka muujiyay hypertrophy muruqa ah. Sidaa darteed, waxaa laga yaabaa in si qalad ah loo sheego Dystrophy muruqa ah, halkii atrophy muruqa spinal. Sababaha cudurkan ayaa la aasaasay sanadkii 1995, marka ay suurto gal ahayd in la ogaado SNM ee hiddo qaadheen. tirtirka Ku dhowaad dhammaan bukaanada homozygous dhacdaa SMN7, lagu gartaa khasaaraha ka mid ah telomeric laba nuqul oo hidda iyo nuqulada centromeric dhawrsan.

xeeladaha daawaynta

Nasiib darro, atrophy muruqa spinal waa cudur, shalalka, taas oo aan shaqayn doonaa si looga hortago in horumarinta. Complicating xaaladdu waa xaqiiqda ah in ma jirto daweyn gaar ah.

Xaaladaha qaarkood, dhakhaatiirta awoodin oo kaliya qaar ka mid ah gargaarka ka xaaladda bukaannada iyadoo la kaashanayo daaweynta dabiiciga ah. Hagaajinta tayada noloshooda by qalabka lafaha gaar ah.

fiiro gaar ah in la bixiyo, in quudinta dadka bukaanka ah sida. Sida caadiga ah soo qoray daawo loo hagaajin karo dheefshiidka. Laakiin sidaas maaha in la samayn karaa haddii atrophy muruqa spinal ayaa la xaqiijiyay oo dhan. Daaweynta waxay ka kooban tahay in magacaabidda jimicsi. Hawlaha jirka waa muhiim u ah bukaanadaan. Waxay lagama maarmaan u tahay si loo horumariyo hawlaha ay muruqyada iyo kordhiyaan mass. Si kastaba ha ahaatee, load waa in la xisaabiyaa by dhakhtarkaaga. Xaaladdan oo kale, waxbarashada jirdhiska waa saamayn faa'iido on jirka oo dhan. Its saamayn tonic waa wax iska cad. Xilsaaray noqon kartaa jimicsi subax daweynta ama nadaafad, jimicsiga biyaha ama massage kaliya garoobaya.