Faski ciwo - cutar ne ko da yaushe "farin ciki" mutum

Faski ciwo, aka sani a tsarar masana kimiyya Angelman ciwo, wani neuro-kayyade Pathology cewa halin da jinkirta ci gaban ilimi da kuma ta jiki sigogi na mutum, a take hakkin na barci halaye da kuma wakefulness, seizures, kwatsam kuma erratic ƙungiyoyi daga cikin wata gabar jiki. Tare da mutum fuska ba ya bar wani murmushi, ya ko da yaushe ya fashe da dariya domin babu dalili, kuma ya dubi izuwa farin ciki. Arm ƙungiyoyi ne mafi kamar tafi, tafi. Faski ciwo ma kira Syndrome farin ciki Ƙasa, kamar yadda marasa lafiya da irin yar tsana, tare da akai murmushi a fuskarsa da kuma kananan m twitching hannuwa, lankwasa a gwiwar hannu - wani gashi ta kamu a matsayin yar tsana yar tsana, da kirtani na wanda aka sarrafa ta a puppeteer.

A karo na farko da wannan kayyade Pathology aka bayyana a cikin 1965 da Dr. Harry Angelmanom pediatrician, wanda kallo uku naƙasasshe yara shafi wannan cuta. Da shi shi ne karo na farko da ya da marasa lafiya da ake kira "yar tsana yara." A baya ambaci cutar ta bayyana a cikin Amurka a farkon 80s. Faski Syndrome - fairly na kowa cuta. A mita na da ya faru a kan ilimin kididdiga data na Jami'ar Washington, (USA) ne 1: 20,000 jarirai.

Genetically Angelman ciwo ne ya sa ta a rashin dama genes daga chromosome 15. A wasu lokuta, m shafewa, watau asarar gene yankin, ko maye gurbi na 15th somatic chromosome. Yawancin lokaci rinjayar da uwa chromosome, wanda aka daga uwa zuwa tayin. Amma shi kuma za a iya lalace ta mahaifinsa, wanda idan da cutar da aka sani a matsayin Prader-Karin ciwo. A karyotype na mutum schematically denoted kamar yadda XX ko 46 XY, 15r-. Maras wata-wata chromosomal aibi ne halin da rashi na babban contiguous yanki na babban lamba (har zuwa 3-4 miliyan) nau'i-nau'i daga DNA sansanonin a yankin q11-q13 rabo 15 th chromosome. Independent nazarin bayyana Sanadin wadannan mutational canje-canje lalacewa ta hanyar mutational canje-canje a UBE3A gene. A samfurin wannan gene ne enzyme bangaren na wani hadadden tsarin sunadarai ƙasƙanci. Faski iya gane asali ciwo ta kayyade analysis.

Yara fama da Angelman cuta a cikin shimfiɗar jariri, da suna da matsaloli tare da abinci, musamman a farkon jariri, ba su samun nauyi. A kadan daga baya, za ka iya lura da wani bata lokaci ba a cikin mota ci gaba da yaron janar basira, wanda shi ne sosai marigayi su fara zama da tafiya. Akwai bad, matalauta magana. Wadannan yara ne yafi m fiye da da za su iya magana ko bayyana a cikin kalmomi.

A makaranta shekaru, akwai babba matsaloli da horo daga waɗanda ake bincikar lafiya tare da faski ciwo, wadannan mutane za su iya karanta a cikin wahala. Suna da tsananin gafalallu da hyperactive. Epilepsy da kuma sabon abu ƙungiyoyi, musamman, lafiya tremor, kuma m ƙungiyoyi na wata gabar jiki, m dariya ba dalili rarrabe waɗannan yara. Marasa lafiya lura halayyar Gait - stiffly. Shi ne saboda wannan alama, an kira su Ƙasa. su ma suna da wani kananan shugaban tare da wani dan kadan flattened baya na kai, m bakinka, shahararren Chin, manyan gibba tsakanin hakora da kuma protruding harshe. Bugu da kari, rabin na marasa lafiya da strabismus, scoliosis da kuma ji na ƙwarai to dagagge zazzabi.

Faski ciwo a halin yanzu ba shi da wani takamaiman jiyya, amma don inganta ingancin rayuwa da marasa lafiya ne yiwu da taimakon da dama warkewa matakan. Jarirai yi tausa, ciyar physiotherapy. A makarantan nasare shekaru yara da hannu magana therapists da kuma jawabin pathologists. Don normalize barci ya wajabta barci sauki. Farfadiya seizures suna bi da anticonvulsants. Sau da yawa, yara suna koyar da alama harshe.

Faski ciwo ne mafi kusantar su shafi boys, amma 'yan mata ne kuma mai saukin kamuwa da wannan cuta. A likita yi, al'amarin da ciki na wata mace tare da wani farin ciki yar tsana ciwo, suka haife wata yarinya, kuma, "farin ciki." Kawai farashin irin wannan farin ciki a adam marasa lafiya ne wuce yarda da m ...