Duchenne dystrophy na muscular

Duhenne muscular dystrophy cuta ce ta tsoka da aka gada. Ya ƙunshi raunin tsoka, wanda da sauri ya zama mafi muni.

Duchenne muscular dystrophy wani nau'i ne na dystrophy na muscular. Yana kara sauri. Sauran dystrophies na muscular (gami da Becker muscular dystrophy) suna yin muni sosai a hankali.

Duhenne muscular dystrophy ana haifar dashi ta hanyar nakasar kwayar halitta don dystrophin (furotin a cikin tsokoki). Koyaya, yakan faru a cikin mutane ba tare da sanannen tarihin iyali na yanayin ba.

Halin yakan fi shafar samari ne saboda yadda cutar ta gada. 'Ya'yan matan da suke dauke da cutar (matan da ke dauke da kwayar cuta mai nakasa, amma ba su da wata alama kansu) kowannensu yana da damar samun kashi 50% na kamuwa da cutar. 'Ya'yan matan kowannensu na da damar kaso 50% na dako. Da wuya sosai, mace na iya kamuwa da cutar.

Duhenne muscular dystrophy yana faruwa a cikin kusan 1 cikin kowane jarirai maza 3600. Saboda wannan cuta ce ta gado, haɗarin ya haɗa da tarihin iyali na Duchenne muscular dystrophy.

Kwayar cutar galibi tana bayyana ne tun kafin shekara ta 6. Suna iya zuwa tun suna yara. Yawancin yara maza ba sa nuna alamun cutar a farkon shekarun rayuwarsu.

Kwayar cutar na iya haɗawa da:

• Gajiya
• Matsalar koyo (IQ na iya ƙasa da 75)
• Rashin hankali na hankali (mai yiwuwa ne, amma ba ya daɗa lalacewa a kan lokaci)

Raunin rauni:

• Yana farawa a kafafu da ƙashin ƙugu, amma kuma yana faruwa da rauni sosai a hannu, wuya, da sauran yankuna na jiki
• Matsaloli tare da ƙwarewar motsa jiki (gudu, tsalle, tsalle)
• Yawan faduwa
• Matsalar tashi daga kwance ko hawa matakala
• Ofarancin numfashi, gajiya da kumburin ƙafa saboda raunin jijiyoyin zuciya
• Matsalar numfashi saboda raunin tsokoki na numfashi
• Sannu a hankali rauni na rauni na tsoka

Ci gaban wahalar tafiya:

• Abun iya tafiya zai iya rasa ta shekara 12, kuma yaron zai yi amfani da keken hannu.
• Matsalar numfashi da cututtukan zuciya galibi suna farawa ne daga shekaru 20.

Cikakken tsarin juyayi (na jijiyoyin jiki), zuciya, huhu, da gwajin tsoka na iya nuna:

• Mutuwar, ƙwayar zuciya mara lafiya (cardiomyopathy) ya zama bayyananne da shekara 10.
• Ciwon zuciya mai narkewa ko kuma bugun zuciya na rashin ƙarfi (arrhythmia) yana nan a cikin dukkan mutane da ke da ƙwayar mushen Duchenne da shekara 18.
• Nakasassun kirji da na baya (scoliosis).
• Manyan tsokoki na maraƙi, gindi, da kafaɗu (kusan shekara 4 ko 5). Wadannan tsokoki ana maye gurbinsu da kitse da kayan hadewa (pseudohypertrophy).
• Rashin ƙwayar tsoka (ɓata).
• Maganin muscle a diddige, kafafu.
• Lalacewar jijiyoyi
• Rashin lafiya na numfashi, gami da ciwon huhu da haɗiye abinci ko ruwa mai wucewa zuwa huhu (a ƙarshen matakan cutar).

Gwaje-gwaje na iya haɗawa da:

• Kayan lantarki (EMG)
• Gwajin kwayoyin halitta
• Gwajin tsoka
• Jini CPK

Babu sanannun magani ga Duchenne muscular dystrophy. Jiyya na nufin sarrafa alamun don inganta ƙimar rayuwa.

Magungunan steroid na iya rage saurin ƙarfin tsoka. Ana iya farawa lokacin da aka gano yaron ko lokacin da ƙarfin tsoka ya fara raguwa.

Sauran jiyya na iya haɗawa da:

• Albuterol, magani ne da ake amfani da shi ga masu fama da asma
• Amino acid
• Carnitine
• Coenzyme Q10
• Halitta
• Man kifi
• Ganyen ruwan shayi
• Vitamin E

Koyaya, ba a tabbatar da tasirin waɗannan jiyya ba. Cellsila za a iya amfani da ƙwayoyin kara da jinyar rayuwa a nan gaba.

Yin amfani da steroid da rashin motsa jiki na iya haifar da riba mai nauyi. An ƙarfafa aiki. Rashin aiki (kamar gadon kwanciya) na iya sanya cutar tsoka muni. Jiki na jiki na iya taimakawa don kula da ƙarfin tsoka da aiki. Sau da yawa ana buƙatar maganin magana.

Sauran jiyya na iya haɗawa da:

• Taimakawa iska (ana amfani dashi da rana ko dare)
• Magunguna don taimakawa aikin zuciya, kamar angiotensin canza masu hana enzyme, masu hana beta, da diuretics
• Na'urorin orthopedic (kamar su takalmin gyaran kafa da kujerun guragu) don haɓaka motsi
• Yin tiyata don maganin scoliosis mai ci gaba ga wasu mutane
• Proton pam hanawa (ga mutanen da ke da kwayar cutar gastroesophageal reflux)

Yawancin karatun da yawa ana nazarin su a cikin gwaji.

Kuna iya sauƙaƙa damuwar rashin lafiya ta hanyar shiga ƙungiyar tallafi inda membobi ke raba abubuwan da suka dace da matsaloli. Ystungiyar ystungiyar ystunƙarar Muscular kyakkyawar tushe ce ta bayanai game da wannan cuta.

Duchenne dystrophy na muscular yana haifar da ci gaba da rashin nakasa. Mutuwa galibi tana faruwa ne da shekara 25, yawanci daga cututtukan huhu. Koyaya, ci gaba cikin kulawa na tallafi ya haifar da maza da yawa rayuwa mai tsawo.

Matsaloli na iya haɗawa da:

• Cardiomyopathy (na iya faruwa a cikin mata masu ɗauka, waɗanda suma ya kamata a bincika su)
• Ciwon zuciya mai narkewa (ba safai ba)
• Gyarawa
• Zuciyar zuciya (ba safai ba)
• Rashin hankali (ya bambanta, yawanci kadan)
• Dindindin, rashin ƙarfi na ci gaba, gami da rage motsi da ragin ikon kulawa da kai
• Ciwon huhu ko wasu cututtukan numfashi
• Rashin numfashi

Kira mai ba da sabis na kiwon lafiya idan:

• Yaronku yana da alamun cutar Duchenne muscular dystrophy.
• Kwayar cututtukan na daɗa taɓarɓarewa, ko sababbin bayyanar cututtuka suna ci gaba, musamman zazzabi tare da tari ko matsalolin numfashi.

Mutanen da ke da tarihin tarihin cutar na iya so su nemi shawarar kwayoyin halitta. Nazarin halittar da aka yi yayin daukar ciki daidai yake wajen gano dystrophy na mushen Duchenne.

Pseudohypertrophic murdede dystrophy; Magungunan dystrophy - nau'in Duchenne

• Abubuwan da ke da alaƙa da lahani na haɗin X - yadda yara maza ke shafar su
• X-nasaba da recessive kwayoyin lahani

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.

Yanar gizo Associationungiyar ystungiyar Musamman. www.mda.org/disease/duchenne-muscular-dystrophy. An shiga Oktoba 27, 2019.

Selcen D. Cututtukan tsoka. A cikin: Goldman L, Schafer AI, eds. Magungunan Goldman-Cecil. 26th ed. Philadelphia, PA: Elsevier; 2020: babi 393.

Warner WC, Sawyer JR. Cutar rashin jijiyoyin jiki. A cikin: Azar FM, Beaty JH, Canale ST, eds. Bellungiyar Orthopedics ta Campbell. 13th ed. Philadelphia, PA: Elsevier; 2017: babi na 35.