Duchenne muscular dystrophy futhi Becker: Ukwelashwa

nezifo ngenxa yezakhi zofuzo basonta iqembu pathologies esindayo ekwelapheni lapho namuhla kunzima. Phakathi kwalezi kwezinso chromosomal atholakala ukwephula ahlukahlukene. Abaningi babo babe nezimpawu neurologic. Izibonelo Duchenne muscular dystrophy, Becker. Lezi zifo ukuthuthukisa ebuntwaneni futhi ube Yiqiniso ezithuthukayo. Naphezu intuthuko yezinzwa, pathologies abanjalo bangabaphostoli kunzima ukuyelapha. Lokhu kungenxa chromosomal izinguquko abekwa ngesikhathi kumiswa emzimbeni.

Incazelo Duchenne muscular dystrophy

Duchenne kwemisipha sokuwohloka - isifo esidluliselwa ngofuzo libhekene lesichubekako kwemisipha iziyaluyalu iyunithi. I zokugula akuvamile. Ukwanda kwe-anomaly cishe 3 abantu ngamunye 10 000 abantu besilisa. Izifo cishe kuzo zonke izimo, kuthinta abafana. Noma kunjalo, intuthuko Duchenne amantombazane kwemisipha kungukuthi ezikhishiwe. Lokhu zokugula kuzibonakalisa ingane isencane.

Ezinye izifo ukuthi unayo izimbangela efanayo futhi izimpawu kuyinto myodystrophy Becker. It has a Yiqiniso izindawo ezingconywana. umonakalo kwemisipha izicubu kwenzeka kamuva kakhulu - entsheni. Kulokhu, izimpawu kancane kancane, kanti isiguli unawo amandla ukusebenza eminyakeni embalwa. Njengoba Duchenne muscular dystrophy, lokhu zokugula kuvamile phakathi kwabantu besilisa. Kuvamisile 1 umuntu ngoba abafana ayizinkulungwane 20.

Duchenne muscular dystrophy: isifo neuroimmunology

Isizathu kokubili pathologies amanga ephula X chromosome. izinguquko bofuzo ezenzeka Duchenne futhi Becker sokuwohloka kwemisipha, bafundelwa-yalolucwaningo 30 ekhulwini elidlule leminyaka. Noma kunjalo yokwelapha etiological ingakamiswa ezitholakele. anomalies imodi esikhubazayo yefa. Lokhu kusho ukuthi uma isakhi sofuzo normal elikhona omunye wabazali, ematfuba ogulayo ingane lokuzalwa 25%. I-X chromosome yinde kunazo emzimbeni. Nge zombili izinhlobo dystrophies ukwephulwa kwenzeka kwelinye kanye Locus efanayo (p21). Lokhu umonakalo kuholela ukwehla amaprotheni zamagama, okuyinto ingxenye cell ulwelwesi kwemisipha izicubu. Duchenne muscular dystrophy lapho engekho nhlobo. Ngakho-ke, ukwephula zenzeka ngaphambili kakhulu. Becker sokuwohloka kwemisipha lapho namaprotheni kwemiqondo okuncane noma sokugembula.

Lwasemtholampilo isithombe sokuwohloka kwemisipha

Duchenne muscular dystrophy libhekene izilonda kohlelo kwamanyuroni. Lesi sifo angase esolwa eneminyaka engu-eminyakeni 2-3. Phakathi nale nkathi, kuba sobala ukuthi ingane lags ngemuva ekuthuthukisweni ngokomzimba ontanga yabo, uya ezimbi, siphela futhi agxume. Ngakho izingane kanzima ukuqombola le ntaba izitebhisi, wayevame iwe. Ukunqotshwa kwe-imisipha iqala wemikhawulo aphansi. Kamuva, ihlanganisa zonke izicubu proximal. Ukonakala kwenzeka phezulu ibhande ehlombe, quadriceps. Kulezi zindawo kukhona ehlambulula kwemisipha. Kuyo yonke le minyaka, myodystrophy iqhubeka. Ukunqotshwa kwe-imisipha nomthwalo njalo kubo kuholele contractures - Ukuhlanekezelwa eziphikelelayo nasemilenzeni. Ngaphezu kwalokho, iziguli Duchenne muscular dystrophy waphawula isifo senhliziyo, okuyinto ngezikhathi benza bona wazizwa. Futhi lesi sifo libhekene ukwehla onekhono bokusungula (hhayi kakhulu liphinyiselwe).

Becker sokuwohloka kwemisipha has izimpawu ezifanayo, kodwa kamuva. I ukubonakaliswa yokuqala zenzeka eminyakeni 10-15. Kukhona ushintsho kancane nedumbe Gait ibonakala kamuva ukuthuthukisa contracture. Ukuphulwa esimiso senhliziyo nemithambo yegazi zikahle. Intelligence kule isifo ngokuvamile hhayi ziyancipha.

Indlela ukuxilonga sokuwohloka kwemisipha?

Sifo "Duchenne muscular dystrophy" (noma Becker) elingaqeda wezinzwa abanolwazi. Endaweni yokuqala kusekelwe isithombe emtholampilo salezi zifo. Okumele kuqashelwe izimpawu ezifana thinning kwemisipha proximal, le hypertrophy gastrocnemius imisipha zamanga (kwenzeka ngenxa cystic futhi imali fat). Lezi zimpawu Cishe njalo kuhlangene pathologies zenhliziyo. I ECG kungabonwa dysrhythmia, kwesokunxele ventricular hypertrophy.

Futhi, iziguli Duchenne muscular dystrophy kancane zisale ngemuva ontanga yabo ekukhuleni. Ukuze sithole lokhu, izingane esebenza njengesazi sokusebenza kwengqondo. Lapho lesi sifo esolwa myography eyenziwa (definition of the kagesi imisipha engaba) kanye EhoKS - luhlolo kwamakamelo inhliziyo. Ukuze ukwazi ukubona ngokunembile khona isifo, uphethwe zofuzo wenziwa. Lapho Duchenne futhi Becker iziguli sokuwohloka kwemisipha kufanele libukwe at ochwepheshe eziningana. Phakathi kwabo - kudokotela oyisazi sezinzwa ngezindleko, isazi sokusebenza kwengqondo kanye wenhliziyo.

ukwelashwa

Ngeshwa, ukuphathwa etiological ka-Duchenne muscular dystrophy futhi Becker hhayi lakhiwe. Nokho, iziguli ukukhombisa yokwelapha lingaze futhi basekelane. Esikhathini kusaqalwa isifo abazenzi izifundo Physiotherapy, massage. Nge ukukhubazeka okukhulu kudingeka enze ukunyakaza lesilinganiselwa nasemilenzeni. Ukubambezela ukuqhubeka isandiso contractures, iphendukele ukulungisa imilenze ngesikhathi sokulala. ukwelashwa Isondlo kungaba isikhathi izimpilo zeziguli futhi banciphise izimpawu eziwumphumela wokugula. Sebenzisa i-calcium supplements, nemithi "galantamine" futhi "Neostigmine". Kwezinye izimo, linqume ejenti hormone, ikakhulukazi "Prednisolone". Lapho ukuphazamiseka kancane kancane inhliziyo ukhombe cardioprotectors.

Duchenne muscular dystrophy futhi Becker Isibikezelo

Duchenne kwemisipha sokuwohloka Izibikezelo okungekuhle. Ukuthuthukiswa ekuqaleni izimpawu kanye netuthuko okusheshayo sifo kuholela ukukhubazeka ebuntwaneni. Iziguli lesi sifo badinga ukunakekelwa okuqhubekayo. Isikhathi esivamile okulindeleke ukuba iziguli Uneminyaka ecishe ibe u-20. Becker sokuwohloka kwemisipha elinesimo Yiqiniso evumayo. Ngaphansi ebhekiwe kodokotela ukuqaliswa imiyalelo yabo operability kweziguli walondoloza kuze iminyaka 30-35.