Friedreich ataxia

Friedreich ataxia cuta ce da ba a cika samun ta cikin dangi (wanda aka gada). Yana shafar tsokoki da zuciya.

Friedreich ataxia ya samo asali ne daga lahani a cikin kwayar halittar da ake kira frataxin (FXN). Canje-canje a cikin wannan jigon yana haifar da jiki da yawa daga wani ɓangaren DNA da ake kira trinucleotide repeat (GAA). A yadda aka saba, jiki ya ƙunshi kusan 8 zuwa 30 kofe na GAA. Mutanen da ke tare da Friedreich ataxia suna da kwafi kusan 1,000. Mafi yawan kwafin GAA da mutum ke da shi, a farkon rayuwarsa cutar na farawa kuma da sauri yana ƙara muni.

Friedreich ataxia cuta ce ta autosomal wanda ke haifar da koma baya. Wannan yana nufin dole ne ku sami kwafin kwayar cutar da ta lalace daga mahaifiya da uba.

Kwayar cututtuka ana haifar da ita ta lalacewar gine-gine a cikin sassan kwakwalwa da ƙashin baya wanda ke sarrafa daidaituwa, motsi tsoka, da sauran ayyuka. Kwayar cutar galibi kan fara kafin balaga. Kwayar cutar na iya haɗawa da:

• Maganar mara kyau
• Canje-canje a hangen nesa, musamman hangen nesa launi
• Rage ƙarfin iya jin motsin rai a ƙananan ƙafafu
• Matsalolin ƙafa, kamar yatsar ƙafa da manyan baka
• Rashin ji, wannan yana faruwa a kusan kashi 10 cikin ɗari na mutane
• Motsi ido na Jerky
• Rashin daidaituwa da daidaito, wanda ke haifar da faɗuwa da yawa
• Raunin jijiyoyi
• Babu hankali a kafafu
• Tafiya mara tsayayye da ƙungiyoyi marasa haɗin kai (ataxia), wanda ya zama mafi muni da lokaci

Matsalolin tsoka suna haifar da canje-canje a cikin kashin baya. Wannan na iya haifar da scoliosis ko kyphoscoliosis.

Ciwon zuciya mafi yawanci yakan taso kuma yana iya haifar da gazawar zuciya. Rashin zuciya ko dysrhythmias waɗanda ba su amsa magani ba na iya haifar da mutuwa. Ciwon sukari na iya haɓaka a ƙarshen matakan cutar.

Za a iya yin gwaje-gwaje masu zuwa:

• ECG
• Nazarin ilimin lantarki
• EMG (ilimin lantarki)
• Gwajin kwayoyin halitta
• Gwajin gwajin jijiyoyi
• Gwajin tsoka
• X-ray, CT scan, ko MRI na kai
• X-ray na kirji
• X-ray na kashin baya

Gwajin sukari (glucose) na iya nuna ciwon suga ko rashin haƙuri na glucose. Gwajin ido na iya nuna lalacewar jijiyar gani, wanda galibi yakan faru ba tare da alamun bayyanar ba.

Jiyya don Friedreich ataxia ya haɗa da:

• Nasiha
• Maganar magana
• Jiki na jiki
• Kayan taimako ko kujerun marasa lafiya

Devicesila a buƙaci ƙirar ƙafa (takalmin gyaran kafa) don matsalar scoliosis da ƙafa. Yin maganin cututtukan zuciya da ciwon sukari yana taimaka wa mutane su rayu tsawon lokaci da haɓaka ƙimar rayuwarsu.

Friedreich ataxia sannu a hankali yana ƙara muni kuma yana haifar da matsalolin yin ayyukan yau da kullun. Yawancin mutane suna buƙatar yin amfani da keken hannu a cikin shekaru 15 da fara cutar. Cutar na iya haifar da saurin mutuwa.

Matsaloli na iya haɗawa da:

• Ciwon suga
• Rashin zuciya ko cututtukan zuciya
• Rashin ikon motsawa

Kira mai ba da sabis na kiwon lafiya idan alamun bayyanar Friedreich ataxia sun faru, musamman ma idan akwai tarihin iyali na rashin lafiyar.

Mutanen da ke da tarihin iyali na Friedreich ataxia waɗanda suke da niyyar haihuwar yara na iya son yin la'akari da binciken kwayar halitta don sanin haɗarinsu.

Ataxia na Friedreich; Rushewar Spinocerebellar

• Tsarin juyayi na tsakiya da tsarin juyayi na gefe

Mink JW. Rikicin motsi. A cikin: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. Nelson Littafin koyar da ilimin yara. 20th ed. Philadelphia, PA: Elsevier; 2016: babi 597.

Warner WC, Sawyer JR. Scoliosis da kyphosis. A cikin: Azar FM, Beaty JH, Canale ST, eds. Bellungiyar Orthopedics ta Campbell. 13th ed. Philadelphia, PA: Elsevier; 2017: babi na 44.