Facystcapulohumeral muscular dystrophy

Facioscapulohumeral muscular dystrophy rauni ne na tsoka da asarar naman tsoka wanda ya zama mafi muni tsawon lokaci.

Dystrophy na mususus na Facioscapulohumeral yana shafar tsokoki na sama. Ba daidai yake da Duchenne muscular dystrophy da Becker muscular dystrophy, wanda ke shafar ƙananan jiki.

Facioscapulohumeral muscular dystrophy cuta ce ta kwayar halitta saboda maye gurbi na chromosome. Ya bayyana a cikin maza da mata. Zai iya faruwa a cikin yaro idan ɗayan mahaifa suna ɗauke da kwayar cutar. A cikin 10% zuwa 30% na shari'o'in, iyaye ba sa ɗaukar kwayar halitta.

Facioscapulohumeral muscular dystrophy yana daya daga cikin sanannun sifofin dystrophy na tsoka wanda ya shafi 1 a cikin 15,000 zuwa 1 a cikin manya 20,000 a Amurka. Yana shafar maza da mata daidai.

Maza suna da alamun rashin lafiya fiye da mata.

Facoscapulohumeral muscular dystrophy yafi shafar fuska, kafada, da tsokoki na sama. Koyaya, yana iya shafar tsokoki a kusa da ƙashin ƙugu, kwatangwalo, da ƙananan ƙafa.

Kwayar cututtukan na iya bayyana bayan haihuwa (nau'in jarirai), amma galibi ba sa bayyana har zuwa shekara 10 zuwa 26. Duk da haka, baƙon abu ne bayyanar cututtuka ta bayyana da yawa daga baya a rayuwa. A wasu lokuta, bayyanar cututtuka ba ta ci gaba.

Kwayar cutar galibi ba ta da sauƙi kuma a hankali tana zama mafi muni. Raunin jijiyoyin fuska na kowa ne, kuma yana iya haɗawa da:

• Fatar ido na faduwa
• Rashin iya busawa saboda rauni na tsokokin kunci
• Rage fuskokin fuska saboda raunin jijiyoyin fuska
• Bacin rai ko fushin fuska
• Wahalar furta kalmomi
• Matsalar kai sama da matakin kafaɗa

Raunin jijiyoyin kafaɗa yana haifar da nakasawa kamar raƙuman kafaɗa (fuka-fukkan kafaɗuwa) da kafaɗun kafaɗa. Mutumin yana da wahalar ɗaga hannuwan saboda rauni na jijiyoyin kafaɗa da hannu.

Arfin ƙafafun ƙafafun na iya yiwuwa yayin da cutar ta ƙara ta'azzara. Wannan yana rikita ikon iya wasanni saboda raguwar ƙarfi da rashin daidaito. Rashin rauni na iya zama mai tsananin isa don tsoma baki tare da tafiya. Percentageananan mutane suna amfani da keken hannu.

Jin zafi na yau da kullum yana cikin 50% zuwa 80% na mutanen da ke da wannan nau'in ƙwayar ƙwayar ƙwayar ƙwayar cuta.

Rashin sauraro da kuma bugun zuciya na al'ada na iya faruwa amma suna da wuya.

Gwajin jiki zai nuna raunin fuska da tsokoki na kafaɗa da kuma fikafikai masu raɗaɗi. Rashin ƙarfi na tsokoki na baya na iya haifar da scoliosis, yayin da rauni na tsokoki na ciki na iya zama dalilin ɓarkewar ciki. Ana iya lura da hawan jini, amma yawanci rauni ne. Gwajin ido na iya nuna canje-canje a cikin jijiyoyin jini a bayan idon.

Gwajin da za a iya yi sun hada da:

• Gwajin kere-kere na halitta (na iya zama dan kadan)
• Gwajin DNA
• Lantarki (ECG)
• EMG (ilimin lantarki)
• Fluorescein angiography
• Gwajin kwayoyin halittar chromosome 4
• Gwajin ji
• Muscle biopsy (na iya tabbatar da cutar)
• Kayayyakin gwaji
• Gwajin zuciya
• X-ray na kashin baya don ƙayyade idan akwai scoliosis
• Gwajin aikin huhu

A halin yanzu, facioscapulohumeral muscular dystrophy ya kasance ba shi da magani. Ana ba da magunguna don kula da bayyanar cututtuka da haɓaka ƙimar rayuwa. An ƙarfafa aiki. Rashin aiki kamar gadon kwanciya na iya haifar da cutar tsoka.

Jiki na jiki na iya taimakawa wajen kula da ƙarfin tsoka. Sauran jiyya masu yiwuwa sun hada da:

• Maganin sana'a don taimakawa inganta ayyukan rayuwar yau da kullun.
• Oral albuterol don haɓaka ƙwayar tsoka (amma ba ƙarfi ba).
• Maganar magana.
• Yin aikin tiyata don gyara fuka fuka-fuka.
• Kayan taimakon tafiya da na'urorin tallafi na kafa idan akwai rauni a idon sawun.
• BiPAP don taimakawa numfashi. Oxygen kadai ya kamata a guje shi a cikin marasa lafiya tare da babban CO2 (hypercarbia).
• Ayyukan ba da shawara (likitan hauka, masanin halayyar dan adam, ma'aikacin zamantakewa).

Rashin lafiya sau da yawa ƙarami ne. Mafi yawan lokuta ba a shafar rayuwa.

Matsaloli na iya haɗawa da:

• Rage motsi.
• Rage ikon kulawa da kai.
• Gyarawar fuska da kafaɗu.
• Rashin ji.
• Rashin hangen nesa (ba safai ba).
• Rashin isasshen numfashi. (Tabbatar cewa kayi magana da mai baka lafiyarka kafin a kamu da cutar rigakafi.)

Kira wa mai ba ku sabis idan alamun wannan yanayin sun ɓullo.

Ana ba da shawara game da kwayoyin halitta don ma'aurata da ke da tarihin iyali na wannan cutar da ke son samun yara.

Landouzy-Dejerine muscular dystrophy

• Musclesananan tsokoki na baya

Bharucha-Goebel DX. Musical dystrophies. A cikin: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Littafin koyar da ilimin yara. 21st ed. Philadelphia, PA: Elsevier; 2020: babi na 627.

Preston DC, Shapiro BE. Kusanci, mai nisa, da kuma rauni gabaɗaya. A cikin: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, eds. Bradley's Neurology a cikin Clinical Practice. 7th ed. Philadelphia, PA: Elsevier; 2016: babi na 27.

Warner WC, Sawyer JR. Cutar rashin jijiyoyin jiki. A cikin: Azar FM, Beaty JH, Canale ST, eds. Bellungiyar Orthopedics ta Campbell. 13th ed. Philadelphia, PA: Elsevier; 2017: babi na 35.