Duchenne murdede dystrophy. hereditary cututtuka

Akwai su da yawa daban-daban cututtuka da cewa faruwa a yara, ko da hali ko yanayi na amfani. Wannan category ne na hereditary cututtuka. Yanzu za mu yi magana game da irin wannan matsalar kamar yadda murdede dystrophy Duchenne Menene wannan ciwo don haka, abin da ta bayyanar cututtuka da kuma ko za ka iya magance shi.

terminology

Da farko, kana bukatar ka san abin da yake cikin hereditary cuta. Saboda haka, wadannan su ne cututtuka da cewa faruwa a sakamakon matsalar hereditary inji na sel. Wannan shi ne, shi ne wani kasawa da cewa faruwa a kayyade matakin.

Duchenne murdede dystrophy - wannan shi ne wani hereditary cuta. Yana bayyana sosai da sauri, babban alama a wannan harka - shi ne mai hanzari m tsoka rauni. Ya kamata a lura: kamar dukan sauran tsoka cuta, Duchenne ta cuta ma sa karshe sakamakon to tsoka atrophy, rushewa daga motor basira da kuma, ba shakka, tawaya. A samartaka, yara tare da wannan ganewar asali ba su sami damar matsawa da kansa da kuma ba zai iya yi ba tare da taimako.

Abin da ya faru a kayyade matakin

Kamar yadda muka rigaya muka gani, Duchenne murdede dystrophy - a kayyade cuta. Alal misali, a maye gurbi a cikin gene cewa shi ne alhakin samar da musamman gina jiki dystrophin. Wannan ya ake bukata domin al'ada tsoka zaruruwa. Yana da muhimmanci a lura da cewa kwayoyin maye gurbi iya ko dai a gaji ko faruwa spontaneously.

Yana da muhimmanci a lura da cewa gene da aka sarrafa a kan chromosome X. Amma mata da wannan cuta ba zai iya zama da rashin lafiya, a matsayin kawai watsawa na maye gurbi daga tsara zuwa tsara. Wannan shi ne, idan uwar zai wuce da maye gurbi wa ɗansa, ya ne 50% yiwuwar rashin lafiya. Idan wata yarinya, ta kawai za a yi jigilar da gene, da na asibiti manifestations da cutar ta so ba.

Symptomatology: Group

Amma, cutar da ake rayayye kunã riyãwa kanta a game da 5-6 shekara. Duk da haka, na farko bayyanar cututtuka na iya faruwa a wani yaro wanda bai kai da shekaru uku. Ya kamata a lura cewa duk pathological cuta Medco conventionally kasu kashi da dama manyan kungiyoyin:

1. tsoka hasãra.
2. Lalacewar da zuciya tsoka.
3. yaro ta kwarangwal deformity.
4. Daban-daban endocrine cuta.
5. Rushewa da shafi tunanin mutum aiki.

Mafi na kowa manifestations da cutar

Tabbata ga ma bukatar magana game da yadda za a bayyana Duchenne ciwo. The cututtuka su ne kamar haka:

• Rauni. Wanne ne a hankali girma, gwamnatin.
• Fara m tsoka rauni ne zuwa babba extremities, sa'an nan shãfe ƙafafunsa, kuma amma sai - duk sauran sassa na jiki da kuma gabobin.
• The yaro hasarar da ikon matsawa kansa. A game da shekaru 12 da haihuwa da yara masu riga kaucewa dogara a kan keken hannu.
• Har ila yau, akwai cuta na numfashi tsarin.
• Kuma, ba shakka, akwai magudi a cardiac tsarin. Daga baya, babu ja canje-canje a cikin myocardium.

A da shan kashi na kwarangwal tsoka

Wannan halakar tsoka nama - ya fi na kowa alama, idan muna magana ne game da irin wannan matsalar kamar yadda Duchenne ta ciwo. Ya kamata a lura cewa jariran suna haife ba tare da wani sabawa a ci gaba. A wani matashi yara ne kasa aiki da kuma mobile fiye da takwarorina. Amma mafi sau da yawa shi ake dangantawa da halin da halin da yaro. Saboda haka sabawa suna sosai wuya gani. More gagarumin bayyanar cututtuka faruwa riga a lokacin da jariri tafi. Irin yara za su iya tafiya a kan tiptoes, ba tare da zama cikakken tasha. Har ila yau, sau da yawa suka fada.

Da yaron iya riga ce ya kullum tanã kai ƙãra rauni, zafi a cikin wata gabar jiki, gajiya. Wadannan crumbs ba na son zuwa gudu, Jump. Duk wani jiki kaya ba su so, kuma suka kokarin kauce wa shi. "To ka ce" cewa baby Duchenne murdede dystrophy, iya ko tafiya. Shi ya zama kamar duck. The boys, kamar yadda aka transshipped daga ƙafa zuwa ƙafa.

A musamman nuna alama ne ma wani alama na Gowers. Wannan shi ne wani yaro zuwa hawa sama daga bene, rayayye yana amfani da hannunsa, kamar yadda idan hawa sama kansa.

Ya kamata kuma a lura da cewa da irin wannan matsala kamar yadda Duchenne ta ciwo, da yaro hankali atrophied tsokoki. Amma sau da yawa shi zai faru da cewa crumbs externally tsokoki ze sosai m. Yaron har zuwa na farko vskidku bayyana yadda idan pumped. Amma wannan shi ne kawai wani Tantancewar mafarki. The abu ne cewa, a cikin shakka daga cutar tsoka zaruruwa hankali karya saukar, kuma su wuri ne shagaltar da adipose nama. Saboda haka, irin wannan m bayyanar.

A bit na kwarangwal nakasar

Idan yaro yana da m murdede dystrophy, sannu a hankali, yaron zai canza siffar da kwarangwal. Da farko Pathology rinjayar da lumbar yankin, sa'an nan akwai scoliosis, watau thoracic kashin baya curvature faruwa. Daga baya bayyananne stoop kuma, ba shakka, zai canza al'ada siffar kafar. Duk wannan bayyanar cututtuka zuwa mafi girma har za a tare da wani tabarbarewar mota aiki na jaririn.

Game da zuciya tsoka

Wajibi alama a wannan cuta ne ma lalacewar zuciya tsoka. A take a zuciya kari, akwai na yau da kullum jini saukad. A wannan yanayin, da zuciya ke tsiro a size. Amma da ayyuka a kan m, rage. Kuma a sakamakon zuciya rashin cin nasara ne a hankali kafa. Idan matsalar da aka har yanzu a hade tare da numfashi gazawar, akwai wani babban yiwuwar mutuwa.

Take hakki na ilimi aiki

Ya kamata a lura da cewa Duchenne murdede dystrophy, Becker ya aikata ba ko da yaushe ne bayyananne bayyanar cututtuka irin su shafi tunanin mutum retardation. Yana iya da alaka da rashi na wannan abubuwa kamar apodistrofin zama dole ga kwakwalwa aiki. Ilimi tawaya iya zama sosai daban-daban - daga m shafi tunanin mutum retardation zuwa idiocy. Worsening da fahimi hanawa taimaka wa har ma da rashin iyawa don halartar kindergartens, makarantu, kulake da kuma sauran wuraren da yara. A sakamakon haka ne zamantakewa wariya.

Cuta da endocrine tsarin

Daban-daban endocrine cuta faruwa a ba fiye 30-50% na dukan marasa lafiya. Mafi sau da yawa shi ne wuce haddi nauyi, kiba. Kamar wancan jariran ne ma ƙananan fiye da wadanda takwarorina girma.

cuta sakamako

Mene ne asibiti da ANNOBA halaye na Duchenne murdede dystrophy? Saboda haka, abin da ya faru da cutar - 3.3 da marasa lafiya da dubu 100 lafiya mutane. Ya kamata a lura cewa tsoka atrophy ne a hankali ci gaba, da kuma 15-shekara-tsufa da wani yãro zai iya yi ba ba tare da taimakon wasu, ana gaba daya gyaran. Don duk, akwai kuma wani m dangane da daban-daban na kwayan cututtuka (sau da yawa kamar urogenital da numfashi tsarin), idan ba yadda ya kamata kula ga yaro bedsores faruwa. Idan matsaloli tare da numfashi tsarin da alaka da zuciya rashin cin nasara, shi ya razana mutuwa. Idan muka yi magana a general, wadannan marasa lafiya kusan taba rayuwa fiye da shekaru 30.

ganewar asali da cuta

Abin da jiyya iya taimaka denoted da ganewar asali "Duchenne murdede dystrophy"?

1. Halitta gwaji, cewa shi ne, da DNA analysis.
2. Electromyography, a lokacin da ya tabbatar da canji a cikin primary tsokoki.
3. Muscle biopsy idan akwai tabbatar da dalilin da gaban dystrophin furotin a tsoka.
4. A jini gwajin domin sanin matakin na creatine. Ya kamata a lura cewa wannan enzyme nuna mutuwa da tsoka zaruruwa.

magani

Cikakken warke daga cutar ne ba zai yiwu ba. Daya iya kawai taimaka cututtuka cewa haƙuri zai yi rayuwa kadan sauki kuma mafi m. Saboda haka, bayan sa da haƙuri da irin wannan ganewar asali, mafi sau da yawa shi ne wajabta far glyukokortikosterodami da aka tsara don rage irin ci gaban da cutar. Sauran hanyoyin da za a iya amfani da wannan matsala:

• Ƙarin iska.
• Far magunguna, wanda aka nufin a daidaita zuciya tsoka.
• A amfani da daban-daban na'urorin da cewa bunkasa haƙuri motsi.

Yana da muhimmanci a lura da cewa latest aukuwa ne hanyoyin yau cewa su ne bisa gene far da kuma kara cell dasawa.

Sauran murdede cututtuka

Akwai kuma sauran nakasar tsoka cuta na yara. Irin cututtuka sun hada da, ban da Duchenne dystrophy:

• Becker dystrophy. Wannan cuta ne sosai kama da Duchenne ta ciwo.
• Murdede dystrophy Dreyfus. Yana da wani sannu a hankali ci gaba cuta a cikin abin da hankali da aka adana.
• Progressive murdede dystrophy, Erb-rot. Bayyana kanta a samartaka, m ci gaban, tawaya zo da wuri.
• Glenohumeral-fuska form Landuzi-Dejerine lokacin da sarrafa tsoka rauni daga cikin fuska, kafadu.

Ya kamata a lura da cewa a karkashin daya daga wadannan cututtuka ba ya nuna tsoka rauni a cikin jariri. All cututtuka faruwa yafi a samartaka. A tsawon lokaci da rayuwa da marasa lafiya yawanci ba ya wuce shekaru 30.