The muscular dystrophy dace da iyali na muscular cututtuka halin da rauni da kuma ci gaba da muscular degeneration: zaruruwa na tsokoki na jiki degenerate. A hankali tsokoki suna raguwa, wato, suna rasa ƙarar su kuma saboda haka ƙarfin su.

Waɗannan su ne cututtuka Original kwayoyin halitta wanda zai iya bayyana a kowane zamani: daga haihuwa, lokacin ƙuruciya ko ma a cikin girma. Akwai fiye da nau'i 30 da suka bambanta a cikin shekarun bayyanar cututtuka, yanayin tsokoki da abin ya shafa da kuma tsanani. Yawancin dystrophy na tsoka suna ci gaba da muni. A halin yanzu, babu magani tukuna. Mafi sanannun kuma mafi yawan cututtukan dystrophy na tsoka shine Duchenne dystrophy na muscular, wanda kuma ake kira "Duchenne muscular dystrophy".

A cikin muscular dystrophy, tsokoki da suka shafi dystrophy na muscular sun fi wanda ke ba da izinin ƙungiyoyi na son rai, musamman tsokoki, cinyoyinsu, kafafu, hannaye da goshi. A wasu dystrophies, tsokoki na numfashi da zuciya na iya shafar su. Mutanen da ke da dystrophy na tsoka na iya rasa motsinsu a hankali lokacin tafiya. Sauran bayyanar cututtuka na iya haɗawa da raunin tsoka, musamman zuciya, gastrointestinal, matsalolin ido, da dai sauransu.

Tsarin jima'i

The muscular dystrophy suna daga cikin cututtukan da ba a saba gani ba da marayu. Yana da wuya a san ainihin mita, tun da yake yana haɗuwa da cututtuka daban-daban. Wasu bincike sun kiyasta cewa kusan 1 cikin 3 mutane suna da shi.

Domin exemple:

• La ciwon kai Duken¹ Duken¹yana shafar kusan ɗaya cikin 3500 maza.
• Ciwon muscular dystrophy na Becker yana shafar 1 cikin 18 maza²,
• Facioscapulohumeral dystrophy yana shafar kusan 1 cikin mutane 20.
• La maladie d'Emery-Dreifuss, yana shafar 1 cikin mutane 300 kuma yana haifar da ja da baya da lalacewar tsokar zuciya

Wasu dystrophies na tsoka sun fi yawa a wasu yankuna na duniya. Ta haka: 

• Abin da ake kira Fukuyama congenital myopathy ya shafi Japan.
• A Quebec, a gefe guda, shi ne oculopharyngeal muscular dystrophy wanda ke mamaye (ka'idar 1 a kowane mutum 1), yayin da yake da wuya a sauran duniya (ka'idar 000 da 1 akan matsakaici).¹) Kamar yadda sunan ke nunawa, wannan cuta ta fi shafar tsokar fatar ido da makogwaro.
• A nata bangaren, da Cutar Steinert ko "Steinert's myotonia", ya zama ruwan dare a yankin Saguenay-Lac St-Jean, inda yake shafar kusan 1 cikin 500.
• The sarcoglycanopathies sun fi yawa a Arewacin Afirka kuma suna shafar ɗaya cikin mutane 200 a arewa maso gabashin Italiya.
• Calpainopathies An fara bayyana su a tsibirin Reunion. Daya daga cikin mutane 200 abin ya shafa.

Sanadin

The muscular dystrophy ne cututtuka na kwayoyin halitta, Wato suna faruwa ne saboda rashin daidaituwa (ko maye gurbi) na kwayar halittar da ake bukata don aikin tsoka ko ci gaban su. Lokacin da wannan kwayar halitta ta canza, tsokoki ba za su iya yin kwangila bisa ga al'ada ba, sun rasa ƙarfinsu da atrophy.

Dozin iri-iri iri-iri na kwayoyin halitta suna shiga cikin dystrophy na tsoka. Mafi sau da yawa, waɗannan kwayoyin halitta ne waɗanda suke "yin" sunadaran da ke cikin membrane na ƙwayoyin tsoka.³.

Domin exemple:

• Duchenne muscular dystrophy myopathy yana da alaƙa da rashi a ciki dystrofine, furotin da ke ƙarƙashin membrane na ƙwayoyin tsoka kuma wanda ke taka rawa a cikin ƙwayar tsoka.
• A cikin kusan rabin ciwon daji na muscular dystrophy (wanda ke bayyana a lokacin haihuwa), rashi ne. merosine, wani yanki na membrane na ƙwayoyin tsoka, wanda ke da hannu.

Kamar yawa cututtuka na kwayoyin halitta, ciwon tsoka na muscular ya fi sau da yawa iyaye suna yadawa zuwa ga 'ya'yansu. Da wuya, kuma suna iya “bayyana” kwatsam, lokacin da kwayar halitta ke canzawa da gangan. A wannan yanayin, kwayar cutar ba ta cikin iyaye ko sauran 'yan uwa.

Mafi yawan lokuta, da muscular dystrophy ana watsa shi ta hanya Hutu. A wasu kalmomi, don bayyanar cutar, dole ne iyaye biyu su kasance masu dauke da kwayar cutar kuma su ba da kwayar cutar ga yaro. Amma cutar ba ta bayyana kanta a cikin iyaye, saboda kowannensu yana ɗauke da kwayar halitta mara kyau na iyaye ɗaya kawai ba ƙwayoyin mahaifa guda biyu ba. Koyaya, kwayar halitta guda ɗaya ta al'ada ta isa ga tsokoki suyi aiki akai-akai.

Bugu da ƙari, wasu dystrophy kawai suna shafar cutar boys : wannan shine lamarin Duchenne muscular dystrophy da Becker's muscular dystrophy. A cikin duka biyun, kwayoyin halittar da ke cikin waɗannan cututtuka guda biyu suna kan X chromosome wanda ke samuwa a cikin kwafi ɗaya a cikin maza.

Manyan iyalai biyu

Gabaɗaya akwai manyan iyalai guda biyu na dystrophy na muscular:

- da muscular dystrophy ce na cikin gari (DMC), wanda ya bayyana a farkon watanni 6 na rayuwa. Akwai kimanin nau'i guda goma nasa, na nau'i daban-daban, ciki har da CMD tare da rashi na merosin na farko, Ullrich's CMD, ciwon kashin baya da ciwo na Walker-Warburg;

- da muscular dystrophy bayyana daga baya a yarinta ko girma, a matsayin misali³ :

• Duchenne dystrophy na muscular
• Becker ta myopathy
• Emery-Dreyfuss myopathy (akwai nau'i da yawa)
• Facioscapulo-humeral myopathy, wanda kuma ake kira Landouzy-Déjerine myopathy
• A myopathies na girdles, don haka mai suna, domin sun yafi shafar tsokoki dake kusa da kafadu da kwatangwalo.
• Myotonic dystrophy (nau'ikan I da II), gami da cutar Steinert. An siffanta su da a myotonie, wato tsokoki sun kasa sakin jiki kamar yadda aka saba bayan anguwa.
• Oculopharyngeal myopathy

Juyin Halitta

Juyin halitta na muscular dystrophy yana da matukar canzawa daga wannan nau'i zuwa wani, amma kuma daga wannan mutum zuwa wani. Wasu nau'ikan suna tasowa da sauri, suna haifar da asarar motsi da tafiya da wuri da kuma wani lokacin m zuciya ko rikitarwa na numfashi, yayin da wasu ke canzawa a hankali cikin shekaru da yawa. Yawancin dystrophy na muscular na haihuwa, alal misali, ba su da ɗan ci gaba ko kaɗan, kodayake bayyanar cututtuka na iya zama mai tsanani nan da nan.³.

matsalolin

Matsalolin sun bambanta sosai dangane da nau'in dystrophy na tsoka. Wasu dystrophy na iya shafar tsokoki na numfashi ko zuciya, wani lokaci tare da sakamako mai tsanani.

Saboda haka, matsalolin zuciya sun zama ruwan dare gama gari, musamman a yara maza masu fama da dystrophy na muscular Duchenne.

Bugu da kari, lalacewar tsoka yana sa jiki da gaɓoɓin jiki su lalace kaɗan kaɗan: masu fama da cutar scoliosis. Ana lura da raguwar tsokoki da tendons akai-akai, yana haifar da tsokar koma baya (ko tendons). Wadannan hare-hare daban-daban suna haifar da nakasar haɗin gwiwa: ƙafafu da hannaye suna juya zuwa ciki da ƙasa, gwiwoyi ko gwiwar hannu sun lalace ...

A ƙarshe, ya zama ruwan dare don cutar tare da ita damuwa ko rashin damuwa da ake bukatar kulawa.