I-Duchenne ne-Becker's myodystrophy: unyango

Izifo ze-Genetic zihlelwe njengeqela lezifo ezinzima, unyango lwawo namhlanje lubangela ubunzima. Phakathi kwezinto ezingafaniyo ze-chromosomal kukho iziphazamiso ezahlukahlukeneyo. Abaninzi babo baneempawu ze-neurological. Imizekelo i-myodystrophy ye-Duchenne, i-Becker. Ezi zifo zikhula ukususela ebuntwaneni kwaye zineenkqubela phambili. Nangona uphumelelo lwe-neurology, loo pathologies ayinakho ukufumana unyango. Oku kubangelwa utshintsho lwe-chromosomal, olubekwe kwinkqubo yokubunjwa kwendalo.

Inkcazo ye-myodystrophy yaseDuchenne

I-myodystrophy ye-Dushenne isifo sofuzo esibonisa ukungahambi kakuhle kwemisipha. I-pathology ishilo. Ubuninzi be-anomaly bu malunga nabantu aba-3 kwi-10 elinye elinesibini. Esi sifo phantse kuzo zonke iimeko zichaphazela abafana. Nangona kunjalo, ukuphuculwa kwe-myodystrophy phakathi kwamantombazana akupheli. Le ntsholongwane ibonakalisa ebusaneni.

Esinye isifo esinezizathu ezifanayo kunye neempawu ngu-Becker's myodystrophy. Ikwahluke ngoku okwangoku. Ukutshatyalaliswa kwezicubu ezinamahlunu kwenzeka kancinci kamva-ebusheni. Ngexesha elifanayo, iimpawu zikhula ngokuthe ngcembe, kwaye isiguli siya kuhlala sikwazi ukusebenza iminyaka emininzi. Njenga-myodystrophy yeDuchenne, le ntsholongwane iyaxhaphaka phakathi kwabantu besilisa. Ubuninzi bezinto ezibonakalayo ngumntu ongu-1 ngamakhwenkwe amawaka angama-20.

I-myodystrophy ye-Duchenne: i-neuroimmunology yesifo

Isizathu sobabini besifo silele kwi-X chromosome. Utshintsho lwe-Genetic olwenzeka kwi-mictodystrophy kaBekker noDuchenne, lwafundiswa kwakhona kwi-30 yekhulu lokugqibela. Nangona kunjalo, unyango lwe-etiological alukafumaneki. Uluhlu lwelifa lugqithiso lugqithiseleyo. Oku kuthetha ukuba ukuba i-gene pathological ikhona komnye wabazali, ithuba lokuvelisa umntwana ogulayo ngu-25%. I-X i-chromosome yona mide kunabo bonke emzimbeni. Kuzo zombini iintlobo ze-dystrophies, ukukhubazeka kwenzeka kwindawo enye (p21). Lo monakalo ukhokelela ekunciphiseni ukuhlanganiswa kweprotheni, eyinxalenye yamagundane eselunxubileyo. Nge-myodystrophy yaseDuchenne, akakho ngokupheleleyo. Ngoko ke, ukuphulwa kwexesha kwenzeka ngaphambili. Kwi-miodystrophy ye-Bekker, iprotheni ihlanganiswa ngexabiso elincinci okanye i-pathological.

Umfanekiso weklinikhi we-myodystrophy

I-myodystrophy yeDuchenne ibonakala ngokutshatyalaliswa kwenkqubo ye-neuromuscular. Esi sifo sinokukrokrelwa kwiminyaka engama-2-3. Ngeli xesha, kuyacaca ukuba umntwana uhlehla emva kokukhula ngokomzimba kwiontanga zakhe, uhamba kakubi, ugijime kwaye aqhube. Kunzima ukuba le ntsana ikhuphe izitebhisi, ihlala iwa. Ukutshatyalaliswa kwemisipha kuqala ngamaphepha aphantsi. Kamva iya kufikelela kuzo zonke iingxenyana ezixhasayo zomzimba. Ukuqhaqhaqhaqhaqhaqho kwenzeka kumbhinqo ophezulu, kunye ne- quadriceps muscle yethanga. Kule ndawo kukho ukunqunyulwa kwemisipha. Kule minyaka, i-myodystrophy iyaqhubeka. Ukutshatyalaliswa kwemisipha kunye noxinzelelo oluqhubekayo kuzo kukhokelela kwizivumelwano - ukuphika kwekhava. Ukongeza, izigulane ezineDuchenne myodystrophy zinezifo zentliziyo ezibonakalisa ngezikhathi ezithile. Kananjalo nakule ntsholongwane ibonakaliswe ngokunciphisa ubuchule beengqondo (ezingabonakali kakhulu).

I-myodystrophy ye-Becker inempawu ezifanayo, kodwa ikhula emva koko. Imbonakalo yokuqala ibonwa kwi-10-15 iminyaka. Utshintsho oluthile lwempembelelo luba khona, ukubonakala kobungakanani kubonakala, emva koko izivumelwano zakha. Iingxaki ezivela kwinkqubo ye-cardiovasculars zichazwe kakuhle. Ingqiqo kwesi sifo ayisoloko iyancipha.

Indlela yokufumanisa i-myodystrophy?

Ukuxilongwa kwe-"Duchenne's myodystrophy" (okanye i-Becker) inokubekwa ngumdlavuza wegazi. Okokuqala, isekelwe kwimifanekiso yeklinikhi yezi zifo. Ingqwalasela ibhekiswe kwiimpawu ezifana nokucuthwa kweengxube zeengxenyana ezixhomekeke kuyo, ukuxokonyiswa kobuxoki bemisipha ye-gastrocnemius (ivela kwi-fibrosis kunye ne-adipose tissue deposition). Ezi zibonakaliso zihlala zidibene kunye neentsholongwane zentliziyo. Kwi-ECG, unokubona ukuphazamiseka kwisigqi, ukuxhatshazwa kwe-ventricle ekhohlo.

Kwakhona, izigulane ezine-myodystrophy zeDuchenne zincinci emva koontanga lwabo ekuphuculweni kwengqondo. Ukucacisa oku, isazi sezengqondo sisebenza nabantwana. Ukuba ukrokrelwa kwesi sifo kuqhutyelwa i-myography (ukuchonga amandla ombane weemisipha) kunye nee-Echoes - ukufundwa kwamagumbi entliziyo. Ukuchonga ngokuchanekileyo ubukho bentsholongwane, ukuxilongwa kofuzo kwenziwa. Kwizigulane nge-Becker kunye neDuchenne, iigulane kufuneka zigcinwe kunye neengcali ezininzi. Phakathi kwabo - i-neurologist, i-psychologist kunye ne-cardiologist.

Unyango

Ngelishwa, unyango lwe-etiological lwe-Duchenne ne-Becker's myodystrophy aluzange luphuhliswe. Nangona kunjalo, isigulane sibonisa unyango olusisigxina. Kwizigaba zokuqala zesifo kukho iinkqubo zonyango, ukuhlalisa umzimba. Ngenxa yokukhubazeka okukhulu, ukunyakaza kwesilenze esifanelekileyo kufuneka kwenziwe. Ukunciphisa ukuqhubela phambili kokuphuhliswa kweemvumelwano, qalisa ukulungisa imilenze ngexesha lokulala. Unyango oluxhasayo lunokulondoloza ixesha lobomi bezigulane kunye nokunciphisa iimpawu zesifo. Basebenzisa amalungiselelo e-calcium, "iGalantamine" kunye ne "Proserin" amayeza. Kwezinye iimeko, izidakamizwa ze-hormone zimiselwe, ikakhulukazi "Prednisolone." Ngenxa yokuphazamiseka kwentliziyo, i-cardioprotectors imiselwe.

I-Duchenne kunye ne-Becker's myodystrophy: i-prognosis

Ukugxekwa kwe-myodystrophy yaseDuchenne kudidekile. Ukuphuhliswa kokuqala kweempawu kunye nokukhula ngokukhawuleza kwesi sifo kubangela ukukhubazeka nakubantwana. Izigulane ezinalesi sifo zifuna ukunakekelwa rhoqo. Umyinge wokuhlala kwexesha lezigulane uneminyaka engama-20. I-myodystrophy ye-Becker ibonakaliswe yinto efanelekileyo. Ngolawulo oluqhubekayo loogqirha kunye nokuzaliseka kwemiyalelo yabo, amandla okusebenza kwezigulane ahlala kwi-30-35 iminyaka.