Muscular ukuba uneDuchenne muscular. izifo zofuzo

Kukho izifo ezininzi ezahlukeneyo ezithi zenzeke abantwana, kungakhathaliseki ukuba iimeko okanye engqonge ukusetyenziswa. Olu didi kwezifo ilifa. Ngoku siza ukuthetha ngengxaki efana muscular dystrophy uneDuchenne Yintoni na le ukugula kunjalo, yintoni iimpawu zakhe yaye uyakwazi ukumelana nokuba nayo.

lwesigama

Ekuqaleni, kufuneka ukuba wazi ukuba yintoni na esi sifo ilifa. Ngoko ke, ezi zifo ukuba kwenzeka ngenxa iziphene izixhobo ilifa iiseli. Oko kukuthi, iintsilelo ezithile ezithe zenzeka kwinqanaba yemfuza.

Ukuba uneDuchenne muscular dystrophy - oku sisifo njengelifa. Kuyabonakala ngokukhawuleza kakhulu, uphawu iphambili kule meko - bubuthathaka kwezihlunu ngokukhawuleza progressive. Kufuneka kuqatshelwe: njengazo zonke ezinye izifo imisipha, isifo uneDuchenne likaThixo kubangela isiphumo lokugqibela yoma kwezihlunu, ukuphazamiseka kwezakhono kunye, kakade, ukukhubazeka. Xa elivisayo, abantwana kunye nale unesifo asaba nako ukuqhubela ngokuzimeleyo kwaye akakwazi ukwenza ngaphandle koncedo.

Kwenzeka ntoni kwi ayinzuzo

Njengoko sele kuchaziwe, ukuba uneDuchenne muscular dystrophy - a isifo yemfuza. Umzekelo, kukho yemfuza isakhi inoxanduva imveliso leeprothini dystrophin okhethekileyo. Ukuba efunekayo kwimicu kwezihlunu eqhelekileyo. Kubalulekile ukuqaphela ukuba kwezakhi noba yimfuzo okanye kwenzeka ngokuzenzekelayo.

Kubalulekile ukuqaphela ukuba i-gene yenzelwe kwi chromosome X. Kodwa abafazi nesi sifo awukho kuba ugula, njengesona sixhobo kuphela izakhi kwizizukulwana ngezizukulwana. Oko kukuthi, ukuba unina uya kudlula i ukuguquka unyana wakhe, yena a-50% amathuba yokugula. Ukuba intombazana, yena waye nje uza kuba yenethiwekhi zofuzo, wabonakala kwezonyango sifo ngeke.

Symptomatology: Group

Ngokusisiseko, esi sifo ngelithi ngokukhutheleyo ngokwayo malunga 5-6 iminyaka yobudala. Nakuba kunjalo, iimpawu yokuqala kungenzeka umntwana lowo bengekafiki kwiminyaka emithathu. Kufuneka kuqatshelwe ukuba zonke ukuphazamiseka zophendlo lwezifo Medco yahlulwe ngokuqhelekileyo ngokwamaqela amakhulu:

1. ukulahleka kwezihlunu.
2. Ukonakala imisipha intliziyo.
3. ukukhubazeka skeletal umntwana.
4. iingxaki ezidalwe Ezahlukeneyo.
5. Ukuphazamiseka komsebenzi yengqondo.

Ezi mpawu zixhaphakileyo isifo

Qiniseka ukuba kufuneka ukuthetha ukubonakalisa njani ukuba uneDuchenne syndrome. Iimpawu zezi zilandelayo:

• Ubuthathaka. Yeyiphi likhula ngokuthe ngcembe, kusenzeka.
• Iqala phambili buthathaka kwezihlunu kukuba kwiziphelo ephezulu, koko wachukumisa iinyawo zakhe, yaye emva koko kuphela - zonke ezinye amalungu omzimba kunye namaziko.
• Umntwana ulahlekelwa ubuchule ukuhambisa ngokwakhe. Malunga neminyaka eli-12 ubudala abantwana sele ixhomekeke ngokupheleleyo kwi esinamavili.
• Kwakhona, kukho ukuphazamiseka kwenkqubo sokuphefumla.
• Kakade ke, kukho nezitenxo kwinkqubo intliziyo. Kamva, utshintsho ayibuyiseki umva kwi myocardium.

Ngomhla ngokoyiswa umsipha skeletal

Loo ntshabalalo esiqwini imisipha - uphawu ixhaphakileyo, xa sithetha ingxaki enjalo ukuba uneDuchenne engqondweni. Kufuneka kuqatshelwe ukuba abantwana bazalwa ngaphandle naluphi na utyeshelo kuphuhliso. Eselula abantwana esebenzayo ngaphantsi neselula ngaphezu kweentanga. Kodwa ke kaninzi ke enxulumene kunye nezinga nesimilo mntwana. Ngako oko ezinxaxhileyo akuvamanga kakhulu ibonwe. zesifo ezibalulekileyo zenzeke sele ngexesha umntwana kude. abantwana abanjalo ukuhamba ngeenzwane, ngaphandle kokuba isingxi. Kwakhona, bavame bawe.

Xa umfana sele athi rhoqo ikhalazela yobuthathaka, iintlungu imilenze, ukudinwa. Ezi imvuthuluka abathandi ukubaleka, ukutsiba. Nayiphi umthwalo ngokwasemzimbeni ongazithandiyo, kwaye bazama lingafuni. "Ukuze athi" ukuba usana ukuba uneDuchenne muscular dystrophy, akwazi nokuba ukuhamba. Iba ngathi nedada. Amakhwenkwe, kokuba transshipped ukususela unyawo ngonyawo.

Isalathi ezizodwa kwakhona iliphawu Gowers. Oko umntwana ukwenyuka ukusuka emgangathweni, ngokusebenzayo usebenzisa izandla zakhe, ngokungathi ekhwela ngokwakhe.

Kufuneka kuqatshelwe ukuba ingxaki enjalo ukuba uneDuchenne engqondweni, umntwana ngokuthe atrophied izihlunu. Kodwa ke kuyenzeka ukuba kwiimvuthuluka ngaphandle izihlunu zibonakala eliphezulu kakhulu. Le nkwenkwe kude kuse vskidku lokuqala kubonakala ngokungathi sokumpompa. Kodwa kuphela siyazikhohlisa optical. Eyona nto kukuba ngethuba le imicu izihlunu sifo ndiludilize ngokuthe ngcembe, yaye indawo yazo kuhlala izihlunu adipose. Ngenxa yoko, inkangeleko onocwangco ngolu hlobo.

A bit of sengozini skeletal

Ukuba umntwana lowo muscular oluqhubekayo dystrophy, ngokuthe ngcembe, le nkwenkwe iya kutshintsha imilo amathambo. ngezifo Kuqala luchaphazela kummandla empontshwa, ngoko kukho zokufota, okt umqolo thoracic ugobile kwenzeka. Kamva wabonakalaliswa ukugoba ndize, ke, iya kutshintsha imilo eqhelekileyo unyawo. Konke oku iimpawu kangangoko okukhulu sikhatshwe kukwehla lomsebenzi lwemoto wosana.

Malunga imisipha yenhliziyo

uphawu esisiNyanzelo kule sifo kwakhona umonakalo imisipha intliziyo. Kukwaphula isingqisho intliziyo, kukho amathontsi uxinzelelo lwegazi rhoqo. Kulo mzekelo, intliziyo ekhula ubukhulu. Kodwa ukusebenza kwalo phezu koko, zehla. Kwaye ngenxa yokusilela intliziyo ebegqwese ukusekwa. Ukuba ingxaki kudityaniswe ukusilela yokuphefumla, kukho amathuba eliphezulu ukufa.

Nokuhlukunyezwa umsebenzi yengqondo

Kufuneka kuqatshelwe ukuba uneDuchenne muscular dystrophy, Becker ukuba njalo iimpawu zibonakale ezifana yokudodobala kwengqondo. Isenokuba sihlobene ukuswela kwezinto ezifana apodistrofin kuyimfuneko ukuze nokusebenza kwengqondo. Isiphene sobukrelekrele kwahluka kakhulu - ukusuka ukukhubazeka engqondweni ngobulali ukuze idiocy. Zisiba lomonakalo cognitive kunegalelo nkqu ekungakwazini ukuya eziguqulweyo, izikolo, imibutho kunye nezinye iindawo apho abantwana. Isiphumo yi iyantlukwano.

Ukuphazamiseka kwenkqubo yonyango

zezigulo ezahlukeneyo ezidalwe kwenzeka akukho ngaphezulu kwe malunga ne30-50% yazo zonke izigulane. Amaninzi oko ubunzima kwemfuneko, ukutyeba. Ngaloo ndlela abantwana nabo obuphantsi kunawe ukukhula oontanga.

umphumela izifo

Yintoni iimpawu zeklinikhi sendyikitya ukuba uneDuchenne muscular dystrophy? Ngenxa yoko, izehlo zesifo - 3.3 izigulane 100 amawaka abantu enempilo nganye. Kufuneka kuqatshelwe ukuba izihlunu yoma kuxhaphaka phambili, kwaye ubudala-15 ubudala umfana ukwenza ngaphandle koncedo ngabanye, ukuba ingabi ngokupheleleyo. Kubo bonke, kukho kwakhona iqela uxhulumaniso rhoqo usulelo ezahlukeneyo bacteria (adla iinkqubo enzala kunye zokuphefumla), ukuba azinakekele ngokufanelekileyo ukuba umntwana bedsores zenzeke. Ukuba iingxaki isixokelelwano sokuphefumla edibene ukusilela ngentliziyo, usongela ukufa. Xa sithetha nje ngokubanzi, la izigulane phantse akazange aphile iminyaka engaphezu kwama-30.

isifo izifo

Yintoni unyango usizo zibonakaliswe unesifo 'ukuba uneDuchenne muscular dystrophy "?

1. uvavanyo Genetic, oko kukuthi, uhlalutyo DNA.
2. Electromyography, xa kuqinisekiswa yi notshintsho imisipha zaseprayimari.
3. Muscle biopsy xa kukho ukuzimisela lobukho kwiproteni dystrophin in kwezihlunu.
4. Uvavanyo kwegazi ukujonga izinga creatine. Kufuneka kuqatshelwe kanjalo ukuba esi enzyme ibonisa kokufa imicu kwezihlunu.

unyango

kwakhona ngokupheleleyo sifo akunakwenzeka. Omnye linokunceda kuphela iimpawu ukuba uza kwenza lula ubomi kancinane kwaye lula ngakumbi. Ngoko ke, emva kokuba ukubeka isiguli isifo esinjalo, amaxesha amaninzi oko emiselweyo unyango glyukokortikosterodami ukuba zilungiselelwe ukwehlisa inkqubela kwesi sifo. Ezinye iinkqubo ezinokusetyenziselwa le ngxaki:

• umoya olongezelelweyo.
• zemithi Therapy, nto leyo ejoliswe kuqheleke imisipha yenhliziyo.
• Ukusetyenziswa izixhobo ezahlukeneyo eziphuhlisa ukushukumiseka nomonde.

Kubalulekile ukuba uqaphele ukuba bangazilibali ezi iindlela namhlanje ukuba zisekelwe unyango sofuzo kwaye stem cell abohlukeneyo.

Ezinye izifo kwimisipha

Kukho nezinye izifo azalwa sezihlunu abantwana. izifo ezifana zibandakanya, ukongeza ukuba uneDuchenne muscular:

• Becker muscular. Esi sifo efana kakhulu ukuba uneDuchenne engqondweni.
• muscular dystrophy Dreyfus. Sisifo kancinane inkqubela apho ingqondo igcinwe.
• muscular Progressive dystrophy, Erb-Rot. Esizibonakalisa elivisayo, ngokukhawuleza progression, ukukhubazeka uza ekuqaleni.
• ifomu Glenohumeral-ubuso Landuzi-Dejerine xa localized izihlunu yokuswela ebusweni, amagxa.

Kufuneka kuqatshelwe ukuba phantsi enye yezi zifo hayi ibonisa izihlunu ubuthathaka sosana. Zonke iimpawu kwenzeka kakhulu elivisayo. Ubude wobomi izigulane ngokuqhelekileyo ayidluli iminyaka engama-30.