Machado-Yusufu cututtuka da jiyya

Machado-Yusufu (MJD), wanda aka fi sani da nau'in hoto mai launi irin na 3 (SCA3), shi ne rashin lafiyar hoto. Ataxia zai iya shafar ƙwayar tsoka, wanda zai haifar da rashin daidaituwa da daidaitawa. Musamman, MJD yana haifar da rashin daidaituwa cikin makamai da kafafu. Mutanen da ke da yanayin sukan kasance da tafiya mai mahimmanci, kamar mai shan giya.

Suna iya samun wahalar magana da haɗiyewa.

An danganta MJD akan lalatawar kwayar cutar a cikin ƙwayar ATXN3 a kan chromosome 14. Yana da yanayin rinjaye, wanda ma'anar kawai iyaye ɗaya ne kawai ya kamata a sami jigon jini don yaro. Idan kana da yanayin, yaronka yana da kashi 50 cikin dari na gado. Yanayin ya fi yawan gani a cikin mutanen Portugal ko Azorean. A tsibirin Flores a cikin Azores, 1 a cikin 140 mutane ke shafar. Duk da haka, MJD zai iya faruwa a kowace kabila.

Cutar cututtuka

Akwai MJD guda uku. Wani nau'in da kake da shi ya dogara da lokacin da bayyanar cututtuka farawa da kuma tsananin waɗannan alamun bayyanar. A nan ne kalli halaye mafi yawan al'ada da alamun alamun waɗannan nau'in:

Rubuta Shekaru na Farko Ƙaddamar da Girma da Ci gaba Cutar cututtuka
Rubuta Na (MKD-I) Tsakanin shekaru 10 zuwa 30 Bayyana rashin ƙarfi yana ci gaba da hanzari
  • Babban tsofaffin tsoka ( dystonia )
  • Stiffness (rigidity)
Nau'in II (MJD-II) Tsakanin shekaru 20 zuwa 50 Kwayar cututtuka suna ciwo da hankali a kan lokaci
  • Ci gaba, ƙarancin ƙwayoyin tsoka (spasticity)
  • Difficulty tafiya saboda ƙwayoyin tsoka (spastic gait)
  • Rahotan ƙyama
Nau'in III (MJD-III) Tsakanin shekaru 40-70 Cutar cututtuka suna sannu a hankali cikin lokaci
  • Muscle twitching
  • Lamba, tingling, cramps, da zafi a hannun, ƙafa, makamai, da kafafu (neuropathy)
  • Lalacewar tsoka nama (atrophy)

Mutane da yawa tare da MJD suna da matsalolin hangen nesa irin su hangen nesa biyu (diplopia) da rashin iyawa don sarrafa motsi ido, da kuma rawar jiki a hannunsu da matsaloli tare da daidaituwa da daidaitawa. Wasu na iya ci gaba da gyaran fuska ko matsaloli urinating.

Yadda aka gano MJD

An gano MJD bisa ga alamun da ke fuskantar.

Tun da cutar ta gaji , yana da muhimmanci a duba tarihin iyalinka. Idan dangi yana da alamun bayyanar MJD, tambayi lokacin da alamun bayyanar su fara da yadda sauri suke ci gaba. Sakamakon ganewar asali zai iya samuwa ne kawai daga gwajin kwayoyin halitta, wanda zai nemi lahani a cikin 14th chromosome. Ga wadanda suke zaune tare da farkon MJD, ran rai zai iya zama takaice kamar yadda tsakiyar 30s. Wadanda ke da MJD mai mahimmanci ko maɓallin marigayi, suna da asalin rayuwa ta al'ada.

Jiyya

A halin yanzu, babu magani ga cutar Machado-Joseph. Har ila yau, ba mu da wata hanya ta dakatar da alamunta daga ci gaba. Akwai, duk da haka, magunguna waɗanda zasu taimaka wajen taimakawa bayyanar cututtuka. Baclofen (Lioresal) ko botulinum toxin (Botox) na iya taimakawa wajen rage ƙwayoyin tsoka da dystonia. Maganin Levodopa, maganin da ake amfani dasu ga cutar da Parkinson, zai iya taimakawa wajen rage girman kai da jinkirin. Kwayar jiki da kayan aiki na iya taimakawa mutane da motsi da ayyukan yau da kullum. Don bayyanar cututtuka, gilashin prism zai iya taimakawa wajen rage mummunan hangen nesa.

Sources:

"Machado-Joseph Fact Sheet." Dama. 16 Afrilu 2014. Cibiyar Nazarin Harkokin Tsaro Nero da Tashi.

"Machado-Joseph cuta." Rahoton Raunuka Rare. Ƙungiyar Ƙungiyar Ƙananan Raunuka. 15 Feb 2007.