Duchenne sokuwohloka kwemisipha. izifo lezinceku

Kukhona izifo eziningi ezahlukene ezenzeka izingane, kungakhathaliseki izimo noma imvelo ukusetshenziswa. Lesi sigaba izifo sitholwa njengefa. Manje sizoxoxa inkinga ezifana sokuwohloka kwemisipha Duchenne Sifo sini lesi ngakho, yini izimpawu zakhe ukuthi ungakwazi ukubhekana naso.

amagama

Ekuqaleni, udinga ukuthi liyini esiwufuzo. Ngakho, lezi izifo ezenzeka ngenxa yokulimala apharathasi lezinceku amaseli. Okungukuthi, kuba ukwehluleka ezithile ezenzeka ezakhini zofuzo.

Duchenne muscular dystrophy - lena kuyisifo esiwufuzo. Kubonakala ngokushesha okukhulu, uphawu main kuleli cala - kuyinto ngokushesha okuqhubekayo buthakathaka kwezicubu. Kufanele kuqashelwe: njengazo zonke ezinye izifo kwemisipha, isifo Duchenne nazo kubangela yi sokugcina imisipha yoma, ukuphazamiseka motor amakhono kanye, yebo, ukukhubazeka. Entsheni, izingane nale Ihlahlubo besakwazi ikghono ngokuzimela futhi ngeke akwenze ngaphandle usizo.

Kwenzekani ezakhini zofuzo

Njengoba sekuphawuliwe kakade, Duchenne muscular dystrophy - a isifo esidluliselwa ngofuzo. Ngokwesibonelo, ngokuguqula izakhi zofuzo isakhi unesibopho ukukhiqizwa kwamangqamuzana amaprotheni dystrophin ekhethekile. Ukuthi kuyadingeka ukuze imisipha Imicu yotshani evamile. Kubalulekile ukuqaphela ukuthi kwezakhi lingasethelwa ngofuzo noma kwenzeka angesabi.

Kubalulekile futhi ukwazi ukuthi isakhi sofuzo itholakala ku-chromosome X. Kodwa abesifazane nalesi sifo akukwazi ukugula, njengoba Transmitter kuphela yokwanda koshintsho ezizukulwaneni ngezizukulwane. Okungukuthi, uma umama kudlule kuguquka indodana yakhe, he is a 50% amathuba iyagula. Uma intombazane, wayezothola nje ukuba othwala isakhi sofuzo, ukubonakaliswa emitholampilo ye isifo yena ngeke.

Symptomatology: Iqembu

Empeleni, lesi sifo ngenkuthalo egomela izenzela yona esikhathini 5-6 ubudala. Nokho, izimpawu zokuqala kungenzeka ingane ongazange efinyelela eminyakeni yobudala emithathu. Kufanele kuqashelwe ukuthi zonke iziyaluyalu sokugembula Medco evamile zihlukaniswe ngamaqembu eziningana ezinkulu:

1. imisipha ukulahlekelwa.
2. Ukulimala imisipha yenhliziyo.
3. deformity lwamathambo wengane.
4. kwempilo endocrine.
5. Ukuphazamiseka umsebenzi ngokwengqondo.

I ukubonakaliswa ezivamile lesi sifo

Qiniseka futhi badinge ukuxoxa ngothandekayo singazibonisa kanjani Duchenne syndrome. Izimpawu zimi kanje:

• Ubuthakathaka. Okuyinto kancane kancane ezikhulayo, ivela.
• Ucala okuqhubekayo buthakathaka kwezicubu uze ufike emikhawulweni engenhla, wabe esethinta izinyawo zakhe, futhi kuphela ke - zonke ezinye izingxenye zomzimba eziyishumi nemitshingo.
• Ingane ilahlekelwa ikghono yena. Lapho sengineminyaka engaba ngu-12 ubudala izingane sezivele engaphansi ngokuphelele ngesihlalo sabakhubazekile.
• Futhi, kukhona iziyaluyalu umgudu wokuphefumula.
• Futhi-ke, kukhona ukushayisana kohlelo inhliziyo. Kamuva, izinguquko ezingenakuhlehliswa e myocardium.

On kokunqotshwa imisipha lwamathambo

Lokho ukubhujiswa kwemisipha izicubu - uphawu ezivamile, uma sikhuluma inkinga ezifana Duchenne Syndrome. Kufanele kuqashelwe ukuthi izingane zizalwa ngaphandle ngeziphambeko ukuthuthukiswa. Esemncane izingane mancane asebenzayo neselula kuka ontanga. Kodwa kaningi kakhulu ke lihlotshaniswa Ubumnene nobunjalo ingane. Ngakho-ke ngeziphambeko kakhulu asivamile ukubonwa. Izimpawu eziningi eziphawulekayo kwenzeka kakade ngesikhathi umntwana kude. Izingane ezinjalo uyakwazi ukuhamba tiptoes, ngaphandle kokuba ngci. Futhi, bona ngokuvamile bakhala ngaphansi.

Lapho lo mfana kakade uthi njalo ekhononda lobuthakathaka, nobuhlungu ezingalweni nasemilenzeni, ukukhathala. Lezi imvuthu ungathandi ukusebenzisa, gxuma. Noma yimuphi umthwalo ngokomzimba bengakuthandi, futhi bazama ukukugwema. "Ukuze bathi" ukuthi ingane Duchenne muscular dystrophy, akwazi ukuhamba ngisho. Kuba sengathi nedada. Abafana, kungathi transshipped ezinyaweni kuya onyaweni.

A inkomba ekhethekile futhi uphawu Gowers. Lokho ingane ukukhuphuka kusukela phansi, ngenkuthalo isebenzisa izandla, sengathi ukugibela wayivusa yena futhi.

Kufanele kuphawulwe ukuthi nge inkinga ezifana Duchenne Syndrome, umntwana atrophied imisipha. Kodwa ngokuvamile kwenzeka ukuthi imvuthu ngaphandle imisipha kubonakale eziphambili kakhulu. Umfana ngisho kuya vskidku lokuqala sengathi akhishwa. Kodwa lena kuphela kuwutalagu. Into wukuthi ngokuhamba sifo imisipha Imicu yotshani kancane kancane sokudiliza, indawo yabo kuhlala izicubu adipose. Ngakho-ke, ukubukeka umxhwele ezinjalo.

Nasi sengozini lwamathambo

Uma ingane has okuqhubekayo sokuwohloka kwemisipha, kancane kancane, lo mfana zizoshintsha ukuma skeleton. zokugula Okokuqala kuthinta esifundeni lumbar ke kukhona ukugobeka komhlandla, okusho thoracic emgogodleni ugobile kwenzeka. Kamuva manifest ngithukulule Yiqiniso, izoshintsha ukuma evamile unyawo. Konke lokhu izimpawu ngokwezinga elikhulu uzobe ephelezelwa ziwohloke motor umsebenzi ingane.

Mayelana imisipha yenhliziyo

uphawu okuyimpoqo kule sifo futhi ukulimala imisipha yenhliziyo. Kungukuphula isigqi inhliziyo, kukhona umfutho wegazi njalo amathonsi. Kulokhu, inhliziyo ikhula ngobukhulu. Kodwa ukusebenza walo okunalokho kwehle. Futhi ngenxa yalokho yinhliziyo kancane kancane kwakhiwa. Uma inkinga ilokhu kuhlangene nokuvaleka kwemigudu yokuphefumula, kukhona awokuthi ukufa.

Ukuphulwa umsebenzi bokusungula

Kufanele kuqashelwe ukuthi Duchenne muscular dystrophy, Becker enza ngaso sonke isikhathi izimpawu manifest ezifana retardation engqondo. It kungase kuhlotshaniswe nokuntuleka izinto ezifana apodistrofin ezidingekile ekusebenzeni kobuchopho. kungahlasela zihluke kakhulu - kusuka imnene retardation engqondo ukuze idiocy. Eziwohlokayo ka nawokuphazamiseka kokusebenza kwengqondo kunomthelela nasezinganeni ukungakwazi khona izinkulisa, izikole, amakilabhu kanye nezinye izindawo lapho izingane. Umphumela inyumbazane.

Ukungasebenzi kahle kohlelo endocrine

kwempilo endocrine zenzeka akukho kuka 30-50% azo zonke iziguli. Ngokuvamile kuba okweqile isisindo, ukukhuluphala. Ngakho izingane nazo ukaleso ontanga ukukhula.

umphumela isifo

Uyini izici emitholampilo epidemiological of Duchenne muscular dystrophy? Ngakho, izigameko zesifo - Iziguli ezingamadoda 3.3 ngamunye abantu abayimiqemane ayizinkulungwane 100. Kufanele kuqashelwe ukuthi imisipha yoma kancane kancane ukuthuthuka, futhi engu oneminyaka engu-15 ubudala umfana ngeke akwenze ngaphandle Ngosizo lwabanye, kokuba yisimo ngokuphelele. Kubo bonke, kukhona ukuxhumana njalo izifo eziningi webhaktheriya (ngokuvamile nje izinhlelo urogenital futhi zokuphefumula), uma kungenjalo kahle ukunakekela ingane bedsores zenzeka. Uma izinkinga umgudu wokuphefumula exhunywe ne ukumelwa inhliziyo, usongela ukufa. Uma sikhuluma ngokuvamile, kulezi ziguli acishe never aphile iminyaka engaphezu kuka-30.

sitholakele isifo

Yini zokwelapha kungasiza ezikhonjiswe kwathiwa unesifo "Duchenne muscular dystrophy"?

1. ukuhlolwa kwezakhi zofuzo, okungukuthi, ukuhlaziya DNA.
2. Electromyography, lapho kuqinisekiswa ushintsho imisipha eyinhloko.
3. Imisipha biopsy uma kukhona ukuzimisela khona amaprotheni dystrophin ezicutshini.
4. Ukuhlolwa kwegazi ukuze kutholakale izinga creatine. Kumele kuqashelwe ukuthi le enzayimu kubonisa kokufa kwezintambo zesivikelo sesifuba kwemisipha.

ukwelashwa

alulame ngokugcwele ngenxa yalesi sifo ayinakwenzeka. Omunye kungaba kuphela izimpawu isiguli kuyokwenza ukuphila kube lula futhi kuwusizo kakhudlwana. Ngakho, ngemva ngokubeka nesineke kokutshelwa ngokukhubazeka kwengane, avame ke ezinqunyiwe ukwelashwa glyukokortikosterodami ukuthi zenzelwe ukubambezela ngentuthuko isifo. Kunezinye futhi izinqubo ukuthi ingase isetshenziselwe le nkinga:

• ukupholisa engeziwe.
• Ukwelashwa imithi, okuhloswe ngalo lo ukuzinza of imisipha yenhliziyo.
• Ukusetshenziswa kumadivayisi ahlukahlukene ezithuthukisa ukuhamba nesineke.

Kubalulekile futhi ukwazi ukuthi ngentuthuko yakamuva izindlela namuhla ukuthi zisekelwe ukwelapha ngezakhi zofuzo futhi ekunqandeni iseli ukufakelwa.

Ezinye izifo kwemisipha

Kukhona nezinye izindawo imisipha azalwa naso isifo kwezingane. Izifo ezihlala zihlanganisa, ngaphezu Duchenne muscular:

• Becker sokuwohloka. Lesi sifo kakhulu efana Duchenne Syndrome.
• sokuwohloka kwemisipha Dreyfus. Yisifo kancane ethuthuka okuyinto ingqondo lilondolozwe.
• Progressive sokuwohloka kwemisipha, ERB-Rot. Kuzibonakalisa usakhula, kulandzelana kwetindzima okusheshayo, ukukhubazeka iza ekuseni.
• ifomu Glenohumeral nobuso Landuzi-Dejerine lapho yenziwe yaba yasendaweni buthakathaka kwezicubu ebusweni, emahlombe.

Kufanele kuqashelwe ukuthi ngaphansi esinye salezi zifo alibonisi buthakathaka kwezicubu kule osanda kuzalwa. Zonke izimpawu kwenzeka ikakhulukazi entsheni. Isikhathi ukuphila iziguli ngokuvamile ingeqi iminyaka engu-30.