Menene Angelman Syndrome

Ciwon Angelman

Portal na Turai na cututtukan da ba kasafai ba da magungunan marayu ya bayyana da Angelma ciwon a matsayin "rashin lafiyar neurogenetic wanda ke da raunin hankali mai tsanani da siffofi na dysmorphic na fuska." Kamar yadda aka zata, yaɗuwar duniya tsakanin 1/10.000 da 1/20.000.

Wato, akwai mutane kaɗan a duniya da wannan cuta da ba kasafai ba. A Spain, kusan mutane 2000 ne ke fama da ita, amma akwai da yawa waɗanda ba a gano su ba, don haka akwai kusan 400 masu cutar.

Halaye na Angelman ciwo

Duk da cewa yana daya daga cikin wadancan cututtukan da ba kasafai ake samun su ba kuma tare da rahusa sosai a cikin jama'a, babu wanda ya kebe daga wannan cuta. Cutar asali ce ta asali wacce ke haifar da jinkirin ci gaba kuma yana da alaƙa da matsalolin magana da daidaitawa. A Ciwon Angelman Har ila yau, rashin hankali yana bayyana kuma, lokaci-lokaci, bayyanar kamawa.

Cuta ce da ba za a iya warkewa ba duk da cewa tana da kyakkyawan hasashen dangane da tsawon rayuwa tunda kusan al'ada ce. Mutane da Ciwon Angelman Ba sa daina jin daɗin rayuwa, kodayake tare da duk waɗannan gazawar, suna yawan yin murmushi da dariya akai-akai, kodayake kuma dole ne su rayu tare da iyakoki da matsalolin da ke tattare da cutar.

Ciwon Angelman

Daga cikin Angelman ciwo bayyanar cututtuka masu zuwa suna bayyana:

  • Jinkirin haɓakawa (ya haɗa da babu rarrafe ko baƙar magana tsakanin watanni 6 zuwa 12)
  • Rashin hankali
  • Babu magana ko ƙaramar magana
  • Wahalar tafiya, motsi, ko daidaitawa da kyau
  • Yawaita murmushi da dariya
  • Halin fara'a da sha'awa
  • Matsalar barci da zama barci

Yawancin mutanen da ke fama da ciwon ba su da tarihin kwayoyin halitta, wanda zai nuna cewa cuta ce mai wuya kuma bazuwar.

Gano ciwo na Angelman

Gano ciwo na Angelman ba sauki. Da farko, iyaye suna fara yin rajistar wasu jinkiri a cikin halayen jariransu, musamman idan aka kwatanta da abubuwan da suka faru da ’yan’uwan da suka manyanta ko kuma tare da wasu yara. Jinkirin haɓakawa yana bayyana tsakanin watanni 6 zuwa 12 kuma wannan shine lokacin da iyaye sukan tuntuɓi, watakila saboda jaririn ba ya rarrafe ko baƙar magana. A daya bangaren kuma, akwai yaran da suka fara kamu da cutar tun suna shekara 2 ko 3. Jinkirin balaga ita ce mafi yawan alamun da ake iya ganowa, wani abu da ke karuwa yayin da yaron ya girma kuma baya haɓaka wasu iyakoki na kowane zamani.

Mutanen da suka fama da cutar Baya ga nuna jinkirin balaga, suna gabatar da wasu halaye na rashin lafiyar Angelman kamar:

  • Ƙaƙƙarfan motsi ko ƙage
  • Ƙananan kai, tare da sashin layi a bayan kai
  • Matsakaicin harshe
  • Gashi, fata, da idanu masu launin haske
  • Halin da ba a saba gani ba, kamar kiɗa hannu da ɗaga hannu yayin tafiya
  • Matsalar bacci

Dalilai da rikitarwa

Kamar yadda aka sani, da Ciwon Angelman Yana faruwa ne ta hanyar canjin kwayoyin halitta, wanda ke kan chromosome 15, wato, a cikin kwayar halittar da ke samar da furotin ligase E3A (UBE3A). Duk da cewa a cikin yanayin al'ada, tayin yana karbar kwayoyin halitta daga daya kwafin kwayoyin halittar mahaifiyar, wani kuma daga kwayoyin halittar uba, a yanayin rashin lafiyar wannan cuta kamar kwayar halittar mahaifiyar ce kawai ke aiki. babu ko lalacewa. A cikin ƴan lokuta kaɗan, waɗannan kwafi biyu ne na kwayar halittar uba, kamar yadda yawanci kwafin biyun na mahaifa ne.

rare cututtuka
Labari mai dangantaka:
Mene ne ciwo na Treacher Collins kuma ta yaya yake shafar jariri?

Saboda bazuwar cutar, ba za a iya hana ta ba, sai dai idan babban yaro yana fama da cutar kuma, daga wannan, ana amfani da likitan ilimin halittu kafin sake samun ciki.

Abin takaici, mutanen da ke fama da ciwo na Angelman na iya samun rikitarwa da yawa kamar

  • Matsalolin ciyarwa
  • Haɓakawa da ɗan gajeren kulawa. Hyperactivity yana raguwa da shekaru.
  • Rashin bacci. Yara gabaɗaya suna buƙatar ƙarancin sa'o'i na barci fiye da yawancin mutane, kodayake wannan yana ƙara zama na yau da kullun tare da shekaru. Wani abu da kuma za a iya taimakawa tare da magunguna da magunguna daban-daban.
  • Scoliosis
  • Kiba

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