I-Facioscapulohumeral muscular dystrophy

I-Facioscapulohumeral muscular dystrophy bubuthathaka bemisipha kunye nelahleko yezihlunu zemisipha eziba mandundu ngokuhamba kwexesha.

I-Facioscapulohumeral muscular dystrophy ichaphazela izihlunu zomzimba eziphezulu. Ayifani ne-Duchenne muscular dystrophy kunye ne-Becker muscular dystrophy, echaphazela umzimba ongezantsi.

I-Facioscapulohumeral muscular dystrophy sisifo semfuza ngenxa yenguqu ye-chromosome. Ivela kumadoda nakwabafazi. Isenokukhula emntwaneni ukuba ngaba omnye umzali uphethe uhlobo lwesifo. Kwi-10% ukuya kwi-30% yamatyala, abazali abayiphathi imfuza.

I-Facioscapulohumeral muscular dystrophy yenye yeendlela eziqhelekileyo zemisipha echaphazela umntu omnye kwabali-15,000 ukuya kwabangama-1 kubantu abadala abangama-20 000 eUnited States. Ichaphazela amadoda nabasetyhini ngokulinganayo.

Amadoda ahlala eneempawu ezingaphezulu kunabafazi.

I-Facioscapulohumeral muscular dystrophy ichaphazela ikakhulu ubuso, igxalaba kunye nemisipha yengalo ephezulu. Nangona kunjalo, inokuchaphazela izihlunu ezijikeleze i-pelvis, ihips, kunye nomlenze ongezantsi.

Iimpawu zinokuvela emva kokuzalwa (ifom yeentsana), kodwa amaxesha amaninzi azibonakali de kube li-10 ukuya kuma-26 leminyaka ubudala. Nangona kunjalo, akuqhelekanga ukuba iimpawu zivele kamva ebomini. Ngamanye amaxesha, iimpawu azikaze zikhule.

Iimpawu zihlala ziphakathi kwaye kancinci kancinci ziye zisiba mandundu. Ubuthathaka bemisipha ebusweni buqhelekile, kwaye bunokubandakanya:

• Ukujongwa kweenkophe
• Ukungakwazi ukubetha impempe ngenxa yobuthathaka bemisipha yesidlele
• Ukuhla kobuso ngenxa yobuthathaka bemisipha yobuso
• Ukudakumba okanye imbonakalo yobuso enomsindo
• Kunzima ukubiza amagama
• Kunzima ukufikelela ngaphezulu kwenqanaba lamagxa

Ubuthathaka bemisipha yamagxa kubangela ukukhubazeka okufana nokubhengezwa kwamagxa egxalaba (iphiko elinamaphiko) kunye namagxa athambileyo. Umntu unobunzima bokuphakamisa iingalo ngenxa yobuthathaka begxalaba nengalo yemisipha.

Ubuthathaka bemilenze esezantsi kunokwenzeka njengoko isifo sisiba mandundu. Oku kuphazamisa amandla okudlala imidlalo ngenxa yokwehla kwamandla kunye nokungalingani. Ubuthathaka bunokuba nzima ngokwaneleyo ukuphazamisa ukuhamba. Ipesenti encinci yabantu abasebenzisa isitulo esinamavili.

Ubuhlungu obungapheliyo bukho kwi-50% ukuya kwi-80% yabantu abanolu hlobo lwe-muscular dystrophy.

Ukuphulukana nokuva kunye nesingqi esingaqhelekanga sinokwenzeka kodwa kunqabile.

Uvavanyo lomzimba luyakubonisa ubuthathaka bobuso kunye nezihlunu zamagxa kunye nephiko le-scapular. Ubuthathaka bemisipha yangemva kunokubangela i-scoliosis, ngelixa ubuthathaka bezihlunu zesisu kunokubangela isisu esishukumayo. Uxinzelelo lwegazi oluphezulu lunokuqatshelwa, kodwa luhlala luthambile. Ukuhlolwa kwamehlo kunokubonisa utshintsho kwimithambo yegazi ngasemva kweliso.

Uvavanyo olunokwenziwa lunokubandakanya:

• Uvavanyo lwe-kinase kinase (inokuba iphakame kancinci)
• Uvavanyo lwe-DNA
• I-Electrocardiogram (ECG)
• EMG (i-electromyography)
• I-fluorescein angiography
• Ukuvavanywa kwemvelo kwe-chromosome 4
• Uvavanyo lokuva
• Imisipha biopsy (inokuqinisekisa ukuxilongwa)
• Uvavanyo olubonakalayo
• Uvavanyo lwentliziyo
• I-X-ray yomgudu ukufumanisa ukuba ngaba kukho i-scoliosis
• Uvavanyo lomsebenzi wePulmonary

Okwangoku, i-facioscapulohumeral muscular dystrophy ihlala inyangeki. Unyango lunikwa ukulawula iimpawu kunye nokuphucula umgangatho wobomi. Umsebenzi uyakhuthazwa. Ukungasebenzi njengendawo yokulala kunokwenza isifo semisipha sibe mandundu.

Unyango lomzimba lunokunceda ukugcina amandla emisipha. Olunye unyango olunokubakho lubandakanya:

• Unyango emsebenzini ukunceda ukuphucula imisebenzi yobomi bemihla ngemihla.
• I-Oral albuterol yokwandisa ubunzima bemisipha (kodwa hayi amandla).
• Unyango lwentetho.
• Ugqirha ukulungisa iscapula esinamaphiko.
• Izinto zokuncedisa ukuhamba kunye nezixhobo zenkxaso yeenyawo ukuba kukho ubuthathaka emaqatheni.
• BiPAP ukunceda ukuphefumla. Ioksijini yodwa kufuneka ithintelwe kwizigulana ezine-CO2 ephezulu (hypercarbia).
• Iinkonzo zokucebisa (ugqirha wezifo zengqondo, ugqirha wengqondo, unontlalontle).

Ukukhubazeka kuhlala kuyinto encinci. Ubomi bexesha elininzi abuchaphazeleki.

Iingxaki zinokubandakanya:

• Ukuncipha kokuhamba.
• Ukwehla kokubanakho ukuzikhathalela.
• Iziphene zobuso namagxa.
• Ukuphulukana nokuva.
• Ukulahleka kombono (kunqabile).
• Ukungoneliseki kokuphefumla. (Qiniseka ukuba uthetha nomboneleli wakho wezempilo ngaphambi kokuba ufumane i-anesthesia ngokubanzi.)

Tsalela umnikezeli wakho ukuba iimpawu zale meko zikhula.

Ukucebisa ngemfuza kuyacetyiswa kwizibini ezinembali yosapho yesi sifo abanqwenela ukuba nabantwana.

I-Landouzy-Dejerine ye-muscular dystrophy

• Imisipha yangaphandle yangaphandle

Bharucha-Goebel DX. Izihlunu zemisipha. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, ii-eds. Incwadi kaNelson yeNcwadi yePediatrics. Umhla wama-21. IPhiladelphia, PA: Elsevier; 2020: isahluko 627.

UPreston DC, uShapiro BE. I-proximal, distal, kunye nobuthathaka ngokubanzi. Ku: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, ii-eds. I-Neurology kaBradley kwiKlinikhi yokuziqhelanisa. Umhla wesi-7. IPhiladelphia, PA: Elsevier; 2016: isahluko 27.

IWarner WC, iSawyer JR. Iingxaki ze-Neuromuscular. Ku: Azar FM, Beaty JH, Kanale ST, ii-eds. Umsebenzi weCampbell's Orthopedics. Umhla we-13. IPhiladelphia, PA: Elsevier; Ngo-2017: isahluko 35.