Cutar cututtuka, Causes da maganin wannan cututtuka na kwayar cutar
Schwartz-Jampel ciwo (SJS) wata cuta ne mai wuya, wanda ke haifar da rashin ciwo na tsokoki na ƙwanƙwara.
Wasu daga cikin mawuyacin cutar da cutar ta haifar sun hada da wadannan:
- Myoponic myopathy (raunin tsoka da girman kai)
- Dysplasia mai lalacewa (lokacin da kasusuwa ba su ci gaba ba)
- Hadin yarjejeniyar (haɗin gwiwar ya zama sanadiyar wuri, ƙuntata motsi)
- Dwarfism (gajeren lokaci)
SJS an fi la'akari da yanayin da ba shi da rai, ma'ana cewa mutum yana bukatar ya sami kashi biyu na kwayoyin cuta, daya daga kowane iyaye, don ci gaba da ciwo.
Irin Schwartz-Jampel Syndrome
Akwai ƙananan ƙananan cututtuka na Schwartz-Jampel. Rubuta Na, dauke da nau'in classic, yana da kashi biyu waɗanda aka gano zuwa gawar muni akan chromosome 1:
- Rubuta IA ta bayyana a baya yayin yaro kuma ba ta da tsanani.
- Nau'in IB yana bayyana a fili a haihuwarsa kuma yana da alamun bayyanar cututtuka.
Schwartz-Jampel ciwo irin na II yana bayyane a lokacin haihuwa. Ya na da alamun bayyanar cututtuka fiye da ko IA ko IB kuma ba a hade da kowane ɓarnaccen ɓarna akan ƙwayar chromosome.
Saboda haka, masana da yawa sunyi imani da cewa Siffar II ita ce ainihin cutar kamar cutar Stuve-Wiedermann-cuta mai wuya da mai tsanani wanda ya kamu da mutuwa a cikin farkon watanni na rayuwa, mafi yawa saboda matsalolin numfashi.
Saboda haka, Rubuta zan zama mayar da hankali ga wannan labarin.
Kwayoyin cutar SJS
Babban alama na Schwartz-Jampel ciwo shine ƙwayar tsoka. Wannan haƙuri yana kama da na Stiff-person syndrome ko Isaacs syndrome , amma rashin ƙarfi na Schwartz-Jampel ciwo ba a rage ta hanyar magani ko barci. Ƙarin bayyanar cututtuka na SJS na iya haɗawa da:
- Wani ɗan gajeren lokaci
- Alamun fuska masu fadi, ƙananan suturar idanu, da ƙananan ƙira
- Hadadden haɗin gwiwa irin su wuyan gajerun wucin gadi, ƙuƙwalwar ƙuƙwalwa (kyphosis), ko kuma kirji mai ɓoye (pectus carinatum, wanda ake kira "kumbun fata")
- Abubuwa masu yawa na kashi da ƙwayar tiloti (wanda ake kira chondrodystrophy)
- Mutane da yawa tare da SJS suna da hanyoyi masu yawa (ocular), suna haifar da nauyin nau'i na bambancin gani
Yana da mahimmanci a fahimci cewa duk wani lamari na SJS na musamman kuma ya bambanta a cikin kewayon da ƙananan cututtuka masu dangantaka, dangane da irin matsalar.
Yadda aka gano Yanayin
SJS yawanci ana gano shi a farkon shekarun rayuwa, mafi sau da yawa a lokacin haihuwa. Iyaye na iya lura da tsokoki na ƙwayar jariri a lokacin canzawar diaper, alal misali. Wannan kararraki da halayen fuskokin da ke tattare da ciwon daji sukan nuna mahimmanci.
Ƙarin karatu kamar haskodin x, rassan tsoka, tsohuwar ƙwayoyin jini na enzyme, da gwajin tsoka da jijiyar gwaji a cikin yaro za a yi don tabbatar da abubuwan da ba daidai ba ne da SJS. Kwanancin gwaji don raguwa marar lahani akan chromosome 1 (HSPG2) zai iya tabbatar da ganewar asali.
A wasu lokuta da yawa, ƙaddarar jini (kafin haifuwa) na SJS zai iya yiwuwa ta hanyar amfani da duban dan tayi don ganin ko tayi yana da halaye da ke nuna SJS ko sauran abubuwan haɓaka.
Dalili na Schwartz-Jampel Syndrome
Tun lokacin da SJS ya fi yawa gadon shi a cikin wani hanzari, idan mutum ya haifa tare da ciwo da iyayensa duka biyu ke ɗaukar nauyin ɓarna. Kowane yaro mai zuwa cewa waɗannan iyaye suna da ƙwayar 1 cikin 4 na haife shi tare da ciwo. A takaice, ana ganin SJS za a gaji a cikin wani tsari mai mahimmanci. A cikin waɗannan lokuta, daya daga cikin nau'in nakasar ya kamata a gaji ga cutar don bayyana kansa.
Overall, SJS wata cuta ce mai wuya tare da lambobi 129 da aka rubuta, bisa ga wani rahoto a Advanced Biomedical Research . SJS ba ta rage girman kai ba, kuma maza da mata suna fama da cutar.
SJS irin II (wanda ake kira Strome-Wiedermann syndrome) ya zama mafi yawan mutane a cikin zuriyar Larabawa ta larabawa.
Jiyya na Schwartz-Jampel Ciwo
Babu magani don ciwo na Schwartz-Jampel, saboda haka magani yana mayar da hankali kan rage cututtuka na cuta. Magunguna da suke amfani da su a cikin wasu tsokawar tsoka, irin su maganin maganin antiseizure Tegretol (carbamazepine) da maganin maganin anti-arrhythmic mexiletine na iya taimaka.
Duk da haka, ƙwayar muscle a cikin suturar Schwartz-Jampel na iya kara tsananta cikin lokaci, don haka yin amfani da ita ba don magani ba zai zama mafi kyau. Wadannan sun hada da massage tsohuwar jiki, warming, shimfiɗa, da kuma warming up kafin motsa jiki.
Yin aiki don taimakawa wajen magance magungunan ƙwayoyin cuta, irin su haɗin gwiwar, kyphoscoliosis (inda yatsun kafa ya zama mahaukaci) da kuma dysplasia na hanji na iya zama wani zaɓi ga wasu marasa lafiya SJS. Ga wasu, tiyata da haɗin jiki na iya taimakawa wajen inganta yanayin yin tafiya da kuma gudanar da wasu ƙungiyoyi a kai tsaye.
Don matsalolin gani da ido, tiyata, gilashin gyarawa, ruwan tabarau na sadarwa, Botox (don spasm na fatar ido), ko wasu hanyoyin tallafi zasu taimaka wajen inganta hangen nesa.
Sources:
Ault J. (2014). eMedicine: Schwartz-Jampel ciwo.
Basiri K, Fatehi F, Katirji B. Ƙungiyar Schwartz-Jampel: Rahoton rahoton da kuma nazarin wallafe-wallafe. Adv Resheffed Res. 2015; 4: 163.
Begam MA. Alsafi W, Bekdache GN, Chedid F, Al-Gazali L, Mirghani HM. Sashin cutar Stuve-Wiedemann: Dysplasia mai skeletal wanda ya kunyar da ƙasusuwan da yawa. Duban dan tayi Obstet Gynecol. 2011 Nov; 38 (5): 553-8.
Ƙungiyar Ƙungiyar Ƙananan Raunuka. (2016). Schwartz-Jampel Syndrome.