Shin jikinka ko na ɗanka yana da rauni? Shin zai iya zama ciwon Nemanaline?

Shin wani lokacin kana jin kamar jikinka yana da rauni sosai, ko kuma ƙaramin yaronka yana yin abubuwa kaɗan bayan sauran yara, ko kuma kamar yana da ƙarancin ƙarfi? Waɗannan abubuwa na iya faruwa saboda dalilai daban-daban. Duk da haka, a yau za mu yi magana game da wata cuta mai wuya amma mai mahimmanci wacce take da mahimmanci a sani. Wannan cuta ce da ake kira Nemanaline Myopathy .

Menene ciwon nemaline?

A taƙaice dai, Nemaline Myopathy wata cuta ce da ke shafar tsokoki da ke taimaka wa jikinmu motsawa (wanda kuma aka sani da tsokokin kwarangwal ). Wannan yana haifar da raunin tsoka (myopathy) a sassa daban-daban na jiki. Waɗannan alamun na iya kasancewa a lokacin haihuwa, ko kuma a lokacin ƙuruciya, kuma ba kasafai ake samun su ba a lokacin girma. Wannan raunin tsoka galibi yana shafar:

• Ga fuskarka
• Zuwa wuya
• Zuwa yankin kwatangwalo
• Zuwa kafadu
• Ga manyan hannaye da ƙafafuwa

Akwai wani abu na musamman game da wannan ciwon nemaline myopathy. Wato, idan muka duba tsokoki (muna yin biopsy ), muna ganin ƙananan abubuwa masu kama da zare a cikin tsokoki (wannan ana kiransa da jikin nemaline) . Kalmar Helenanci "nema" kuma tana nufin "kamar zare". Don haka wannan cuta ta sami sunanta. Haka kuma ana kiranta da wasu sunaye, wataƙila kun ji labarinta:

• Cutar sanda da aka haifa
• Cutar jiki ta Nepal
• Ciwon hakori (Rod myopathy)

Yawancin mutanen da ke fama da cutar nemaline myopathy ana haifar su da maye gurbi na kwayoyin halitta da aka gada daga iyayensu . Duk da haka, ba kasafai ake samun wannan yanayin ba tare da tarihin iyali ba, kuma yana iya faruwa ne sakamakon maye gurbi na kwayoyin halitta bazuwar.

Abu mafi mahimmanci shine babu maganin cutar nemaline myopathy. Duk da haka, akwai magunguna daban-daban da zasu iya taimakawa wajen magance alamun cutar da kuma sauƙaƙa rayuwa. Mutanen da ke da nau'in cutar nemaline myopathy da aka fi sani da ita sau da yawa suna iya rayuwa ta yau da kullun da kuma aiki.

Akwai nau'ikan cutar Nemanaline Myopathy daban-daban?

Eh, akwai manyan nau'ikan cutar nemaline myopathy guda shida. Lokacin fara alamun cutar da kuma tsananin cutar ya bambanta dangane da nau'in cutar. 1. Ciwon nemaline myopathy na asali na yau da kullun: Wannan shine nau'in da ya fi yawa . Kimanin rabin duk marasa lafiya na nemaline myopathy suna cikin wannan nau'in. Wannan yanayi ne da ke faruwa a lokacin haihuwa. 2. Ciwon nemaline na asali na matsakaici :A cikin wannan nau'in, alamun ba su da tsanani kamar na nau'in mai tsanani, amma sun fi tsanani fiye da na al'ada. Kimanin kashi 20% na marasa lafiya suna da wannan nau'in. 3. Ciwon nono mai tsanani na haihuwa (sabon haihuwa): Wannan yanayi ne mai tsanani da ke faruwa a lokacin haihuwa . Kimanin kashi 16% na marasa lafiya suna da wannan nau'in. 4. Ciwon nono mai tsanani na yara : Wannan nau'in yana bayyana tsakanin shekaru 10 zuwa 20. Kusan kashi 10% na marasa lafiya suna da wannan nau'in. 5. Ciwon nono mai tsanani na manya: Wannan yanayin yana faruwa tsakanin shekaru 20 zuwa 50. Kimanin kashi 4% na marasa lafiya suna da wannan nau'in. 6. Ciwon nono mai tsanani na Amish : Wannan wani nau'in musamman ne da ake gani a tsakanin al'ummar Amish. Yana da matuƙar wuya kuma sau da yawa yana iya haifar da mutuwa a lokacin ƙuruciya.

Wa zai iya kamuwa da wannan yanayin?

Ciwon Nemaline na iya shafar kowa, ba tare da la'akari da jinsi, launin fata, ko addini ba. Duk da haka, idan ɗaya ko duka iyayenku suna ɗauke da maye gurbin kwayar halittar cutar, kuna cikin haɗarin kamuwa da cutar . Mutanen da ke cikin al'ummar Amish suma suna cikin haɗarin kamuwa da cutar. Cutar ce da ba kasafai ake samunta ba . Masu bincike sun ce cutar tana faruwa a cikin kimanin haihuwa ɗaya cikin 50,000. Duk da haka, a cikin al'ummar Amish, ana cewa mutum ɗaya cikin 500 zai iya kamuwa da wannan cutar.

Mene ne ke haifar da ciwon nemaline myopathy?

Ciwon nemaline myopathy cuta ce da ke shafar tsarin kwarangwal da tsoka . Sau da yawa yana faruwa ne sakamakon canje-canje a cikin kwayoyin halitta, wanda ake kira maye gurbi na kwayoyin halitta . Ana iya gadon waɗannan maye gurbi na kwayoyin halitta daga iyaye ɗaya ko duka biyun.

• Wani lokaci, wannan yanayin na iya faruwa idan iyaye biyu suna ɗauke da kwayar halitta mara kyau (watau, ana gadonta azaman sifar autosomal recessive) .
• Ba kasafai ake samun hakan ba, koda kuwa iyaye ɗaya ne kawai ke gadon kwayar halitta mara kyau (wato, a matsayin siffa ta autosomal dominant ).
• Wani lokaci, wannan yanayin na iya faruwa ne sakamakon sabon maye gurbi na kwayoyin halitta a cikin maniyyi ko ƙwai.

Sau da yawa wannan yana faruwa ne sakamakon maye gurbi a cikin kwayar halittar Nebulin (NEB) ko kwayar halittar Actin alpha-1 (ACTA1) . Nebulin da actin nau'ikan sunadarai ne guda biyu waɗanda ke taimaka wa tsokokinmu su yi ƙarfi. Ka yi tunanin su kamar sassan injina. Idan akwai matsala da waɗannan sassan, tsokoki suna daina aiki yadda ya kamata.

Mene ne alamun wannan cuta?

Babban alamun cutar nemaline myopathy sune:

• Rage sautin tsoka (Hypotonia) : Jin rauni a jiki, kamar ƙwallon roba.
• Rage ko rasa motsin ƙafa: Rage ƙarfin motsa ƙafa lokacin da likita ya taɓa gwiwa da ƙaramin guduma.
• Raunin tsoka : Jin rauni a jiki .

Idan jaririnku ya nuna waɗannan alamun, za ku iya ganin wasu abubuwa kamar:

• Tafiya mai ban mamaki (rashin lafiyar tafiya) .
• Kwarewar motsa jiki: Jinkiri a abubuwa kamar zama, tsayawa, da kuma sarrafa kai.
• Wahalar magana da haɗiyewa (dysarthria da dysphagia) .
• Yankin muƙamuƙi yana nan a baya fiye da yadda aka saba (retrognathia) .
• Ɗauki siffar fuska mai tsayi .
• Lanƙwasa ta saman baki ba ta dace ba .
• Murmushi mara kyau (aikin velopharyngeal) .
• Rage numfashi yayin barci (rashin iska mai kyau a lokacin dare) , wanda zai iya haifar da ƙaruwar matakan carbon dioxide a cikin jini (hypercarbia) .
• Wahalar numfashi (dyspnea) .

Mutane masu wannan yanayin na iya samun wasu alamu yayin da suke tsufa :

• Taurin kashin baya mara kyau .
• Ciwon scoliosis .
• Kwankwali na haɗin gwiwa .
• Kirjin da ya nutse (pectus excavatum) .

Ta yaya ake gane wannan cuta?

Da farko, likita zai tambaye ku ko ɗanku game da alamun cutar ku da kuma ko wani a cikin iyalinku yana da irin wannan yanayi. Sannan, za su yi gwajin jiki. Idan likita ya yi zargin cewa nemaline myopathy ne, zai yi odar a yi masa biopsy na tsoka . Wannan ya haɗa da cire ƙaramin yanki na tsoka yayin tiyata da kuma duba shi. Idan kai ko yaronka kuna da wannan yanayin, za ku ga tsarin da ke kama da zare (jikin nemaline) a cikin wannan tsokar. Likitan zai kuma yi gwajin kwayoyin halitta .Ana iya ba da shawarar hakan. Wannan zai iya tabbatar da yanayin ciwon nemaline myopathy.

Yaya ake yi masa magani?

Kamar yadda aka ambata a baya, babu wani takamaiman magani da zai magance wannan. Saboda haka, magani yana da nufin rage alamun cutar da kuma taimakawa wajen sauƙaƙa rayuwa . Maganin na iya haɗawa da:

• Taimako wajen magance matsalolin numfashi: Wannan na iya haɗawa da sanya tracheostomy , haɗawa da injinan iska na inji , ko amfani da injin BiPAP .
• Motsa jiki mai ƙarancin tasiri: Kiyaye ƙarfin tsoka.
• Maganin tausa da motsa jiki : Kula da aikin tsoka.
• Maganin magana : Rage wahalar magana da kuma rashin iya magana.
• Dabaru na shimfiɗa tsoka : Ƙara motsin tsoka.
• Kayan taimakon tafiya: Abubuwa kamar sanda, sandunan motsa jiki, kayan haɗin gwiwa, da kuma keken guragu.

Idan alamun sun yi tsanani, ko kuma akwai wasu matsalolin lafiya, za a iya buƙatar a kwantar da kai a asibiti . Asibiti na iya samar da waɗannan magunguna:

• Tallafin numfashi: Kamar iska mai amfani da injina don taimaka maka numfashi yayin barci.
• Tiyata : Maganin ciwon haɗin gwiwa ko scoliosis .
• Abinci mai gina jiki : Idan kana da matsala wajen haɗiye abinci.

Za a iya rage wannan haɗarin?

Gaskiya ne, babu wata hanyar da za a hana kanka ko ɗanka kamuwa da cutar nemaline myopathy. Duk da haka, yana da matuƙar muhimmanci a san alamun cutar, a nemi shawarar likita da wuri, sannan a fara magani idan ya cancanta .

Wane irin makoma ne wanda ke da wannan yanayin zai iya tsammani?

Wannan ya bambanta sosai dangane da nau'in cutar .

• Ciwon nemaline na asali na yau da kullun: Rashin ƙarfi na tsoka yawanci yana kasancewa iri ɗaya akan lokaci. Duk da haka, yayin da kake tsufa, raunin na iya ƙaruwa kaɗan tare da girma.
• Ciwon daji mai tsanani na haihuwa (saurayi) na nemaline: Wannan na iya haifar da matsaloli . Misali:
• Gabobi da yawa suna makale a wuri mai lanƙwasa ko kuma mai tsawo (Arthrogryposis multiplex congenita) .
• Shaƙar abinci ko ruwaCiwon huhu .
• Karaya.
• Ciwon tsoka na zuciya (Cardiomyopathy) .
• Matsalar numfashi .
• Ciwon nemaline na tsaka-tsaki na haihuwa: Mutane da yawa na iya buƙatar taimakon numfashi da kuma keken guragu.
• Ciwon nemaline myopathy na yara : Wannan na iya haifar da faɗuwar ƙafa, yanayin da ba za a iya ɗaga haɗin idon sawu sama da haɗin idon sawu ba. Hakanan yana iya haifar da asarar motsin tsokoki na ƙafa da ƙafar sawu.
• Ciwon nemaline myopathy na manya : Wannan kuma yana iya haifar da matsaloli :
• Wahalar numfashi.
• Wahalar riƙe kai a tsaye saboda raunin tsokoki na wuya.
• Matsalolin cututtukan zuciya.
• Rauni a hankali yana ƙaruwa.
• Ciwon Amish nemaline : Matsalolin da ke tattare da wannan yanayin sun haɗa da raunin tsoka mai ci gaba, gazawar numfashi, da kuma matsalar ƙashi a tsoka .

Don haka, game da makomar, ya dogara ne da nau'in cutar da kuma tsananin alamun cutar . Wanda ke da nau'in cutar mafi sauƙi (na yau da kullun na nemaline myopathy) zai iya tafiya ba tare da wani tallafi ba. Duk da haka, mutanen da ke da nau'in cutar mafi tsanani (Amish nemaline myopathy) galibi suna rayuwa na kimanin shekaru biyu.

Amma kada ku damu. Ko da yake babu magani, idan aka yi amfani da magani mai kyau, mutane da yawa da ke fama da cutar nemaline myopathy za su iya rayuwa mai tsawo . Dangane da nau'in cutar, tsawon rayuwar mutum na iya kasancewa daga 'yan watanni zuwa tsawon rayuwa.

Ta yaya za ku kula da kanku ko ɗanku idan yana fama da wannan matsalar?

Za ka iya taimakawa wajen rage matsalolin wannan yanayin ta hanyar yin waɗannan abubuwa:

• A riƙa duba aikin zuciyarka akai-akai.
• Nemi shawarar likita da magani nan da nan idan kun kamu da cutar ƙarancin numfashi (misali, mashako , toshewar ƙirji, ciwon huhu ).

Idan kai ne mai ɗauke da kwayar halittar wannan cuta kuma kana fatan samun ɗa, yana da kyau ka haɗu da mai ba da shawara kan kwayoyin halitta don neman shawara .

Ka tuna a matsayin taƙaice

Nemaline Myopathy (NM) wata cuta ce da ba kasafai ake samunta ba wacce ke shafar tsokoki na ƙashi. Manyan alamomin cutar sune raguwar sautin tsoka da raunin tsoka. Akwai nau'ikan wannan cuta da dama, kowannensu yana da alamun farko da tsananin su daban-daban. Duk da cewa babu takamaiman magani, akwai magunguna don rage alamun.Yawancin mutanen da ke da nau'in ciwon daji da aka fi sani da shi (na yau da kullun na nemaline myopathy) za su iya rayuwa cikin 'yanci tare da magani mai kyau. Hasashen wasu nau'ikan ya bambanta dangane da tsananin alamun. Saboda haka, yana da matukar muhimmanci a bi shawarar likita kuma a sami kulawa mai kyau . Ciwon daji na Nemaline, Rashin ƙarfin tsoka, Cututtukan Halitta, Cututtukan Yara, Cututtukan Jijiyoyin Jijiyoyi, Matsalolin Numfashi, Binciken Jiki na Muscle