Ystarfafa muscular dystrophies

Ystwayoyin muscular dindrophies sun haɗa da aƙalla cututtuka daban-daban 18 da suka gada. (Akwai nau'ikan siffofin halitta guda 16 da aka sani.) Waɗannan rikice-rikice sun fara shafar tsokoki da ke kusa da ɗamarar kafaɗa da ƙugu. Wadannan cututtukan suna kara munana. A ƙarshe, yana iya haɗawa da wasu tsokoki.

Ystwayoyin muscular dystrophies babban rukuni ne na cututtukan ƙwayoyin cuta wanda a ciki akwai rauni na tsoka da ɓata (muscular dystrophy).

A mafi yawan lokuta, dole ne iyaye su mika kwayar halittar da ba ta aiki (mai nakasa) don yaro ya kamu da cutar (autosomal recessive gado). A wasu nau'ikan nau'ikan nau'ikan, iyaye daya ne ke buƙatar wucewa akan kwayar halittar da ba ta aiki don shafar yaro. Wannan ana kiran sa gadon sarauta. Don 16 daga cikin waɗannan sharuɗɗan, an gano ƙwayoyin halittar da ke da nakasa. Ga wasu, har yanzu ba a san asalinsu ba.

Babban mawuyacin haɗari shine samun ɗan uwa tare da dystrophy na muscular.

Mafi sau da yawa, alamar farko ita ce raunin tsoka. Misalan wannan sun hada da matsala tsayawa daga matsayin zaune ba tare da amfani da makamai ba, ko wahalar hawa matakala. Rashin rauni yana farawa tun yarinta har zuwa samartaka.

Sauran cututtukan sun hada da:

• Ba al'ada, wani lokacin waddling, tafiya
• Abubuwan haɗin gwiwa waɗanda aka gyara a cikin matsayin kwangila (ƙarshen cutar)
• Calanni da musan maruƙa masu duban ƙwayar cuta (pseudohypertrophy), waɗanda ba su da ƙarfi a zahiri
• Rashin ƙwayar tsoka, ƙananan wasu sassan jiki
• Backananan ciwon baya
• Tafiyar hawainiya ko tsafi-tsafe-tsafe
• Weaknessarfin kafaɗa
• Rashin rauni na tsokoki a fuska (daga baya cutar)
• Rauni a cikin tsokoki na ƙananan ƙafafu, ƙafafu, ƙananan hannu, da hannaye (daga baya cutar)

Gwaje-gwaje na iya haɗawa da:

• Matakan halittar kinase kinase
• Gwajin DNA (gwajin kwayar halitta)
• Echocardiogram ko ECG
• Gwajin Electromyogram (EMG)
• Gwajin tsoka

Babu sanannun jiyya waɗanda ke juya raunin tsoka. Za a iya samun maganin jiyya a nan gaba. Maganin tallafi na iya rage rikicewar cutar.

Ana gudanar da yanayin ne bisa ga alamun mutum. Ya hada da:

• Kulawa da zuciya
• Motsi taimaka
• Jiki na jiki
• Kulawa da numfashi
• Kula da nauyi

A wasu lokuta ana buƙatar aikin tiyata don duk wani ƙashi ko matsalolin haɗin gwiwa.

Ystungiyar ystungiyar ystungiyar Muscular kyakkyawar hanya ce: www.mda.org

Gabaɗaya, mutane suna da rauni wanda sannu a hankali yake zama mafi muni a cikin tsokoki da abin ya shafa.

Cutar na haifar da asarar motsi. Mutumin na iya dogaro da keken hannu a cikin shekaru 20 zuwa 30.

Musclearfin ƙwayar tsoka da aikin lantarki mara kyau na zuciya na iya ƙara haɗarin bugun zuciya, suma, da mutuwa kwatsam. Yawancin mutane da ke tare da wannan rukuni na cututtukan suna rayuwa cikin girma, amma ba su kai tsawon ransu ba.

Mutanen da ke da dystrophies na mushe hannu na hannu na iya fuskantar matsaloli kamar:

• Heartarfin zuciya mara kyau
• Kwangilar haɗin gwiwa
• Matsaloli tare da ayyukan rayuwar yau da kullun saboda raunin rauni
• Raunin ci gaba, wanda na iya haifar da buƙatar keken hannu

Kira mai ba da sabis na kiwon lafiya idan kai ko yaronka sun ji rauni yayin ɗagawa daga wurin tsugunewa. Kira masanin ilimin halittar jini idan ku ko dangin ku an gano ku tare da dystrophy na muscular, kuma kuna shirin yin ciki.

Ana ba da shawarwarin kwayoyin halitta ga mutanen da abin ya shafa da danginsu. Ba da daɗewa ba gwajin kwayoyin zai ƙunshi jigilar kwayar halitta gaba ɗaya kan marasa lafiya da danginsu don tabbatar da ganewar asali. Ba da shawara game da kwayar halitta na iya taimaka wa wasu ma'aurata da iyalai su koya game da haɗarin kuma su taimaka tare da tsara iyali. Hakanan yana ba da damar haɗa marasa lafiya da rajistar cututtuka da ƙungiyoyin haƙuri.

Wasu daga cikin rikitarwa ana iya hana su tare da maganin da ya dace. Misali, na'urar bugun zuciya ko defibrillator na iya rage haɗarin haɗuwa da mutuwa kwatsam saboda mummunan larurar zuciya. Magungunan jiki na iya iya hana ko jinkirta kwangila da haɓaka ƙimar rayuwa.

Mutanen da abin ya shafa na iya son yin bankin DNA. Ana bada shawarar gwajin DNA ga wadanda abin ya shafa. Wannan yana taimakawa wajen gano maye gurbi na iyali. Da zarar an samu maye gurbi, gwajin DNA na haihuwa, gwajin masu dauke da kwaya, da kuma binciken asalin kwayoyin halitta na yiwuwa.

Muscle dystrophy - nau'in igiya mai ɗamara (LGMD)

• Musclesananan tsokoki na baya

Bharucha-Goebel DX. Musical dystrophies. A cikin: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Littafin koyar da ilimin yara. 21st ed. Philadelphia, PA: Elsevier; 2020: babi na 627.

Finkel RS, Mohassel P, Bonnemann CG. Haihuwa, ɗamarar hannu da sauran dystrophies na jijiyoyin jiki. A cikin: Swaiman KF, Ashwal S, Ferriero DM, et al, eds. Swaiman’s Pediatric Neurology. Na 6 ed. Elsevier; 2017: babi na 147.

Mohassel P, Bonnemann CG. Ystarfafa muscular dystrophies. A cikin: Darras BT, Jones HR, Ryan MM, DeVivo DC, eds. Cutar Neuromuscular na Yara, Yara, da Samartaka. 2nd ed. Waltham, MA: Elsevier Makarantar Ilimin; 2015: babi na 34.