Facioscapulohumeral muscular dystrophy

ʻO ka Facioscapulohumeral mustrular dystrophy kahi nāwaliwali o nā mākala a me ka nalo ʻana o nāʻiʻo i hōʻeha i ka holo ʻana o ka manawa.

Hoʻopili ka Facioscapulohumeral mustrular mustrular i nā mākala o luna o ke kino. ʻAʻole like ia me Duchenne muscular dystrophy a me Becker mustrular dystrophy, kahi e hoʻopili ai i ke kino haʻahaʻa.

ʻO ka Facioscapulohumeral mustrular dystrophy kahi maʻi maʻi kūpona ma muli o kahi hoʻololi chromosome. ʻIke ʻia i nā kāne a me nā wahine. E ulu paha i loko o kahi keiki inā hāpai kekahi makua i ka ʻāpana no ka maʻi. Ma 10% a 30% o nā hihia, ʻaʻole hāpai nā mākua i ka ʻāpana.

ʻO Facioscapulohumeral mustrular dystrophy kekahi o nā ʻano maʻamau o ka muscle dystrophy e hoʻopili ana iā 1 ma 15,000 a 1 i 20,000 mau mākua maʻAmelika Hui Pū ʻIa. Hoʻopili like ia i nā kāne a me nā wahine.

ʻOi pinepine nā kāne i nā ʻōuli ma mua o nā wahine.

ʻO ka Facioscapulohumeral mustrular dystrophy ka mea nui i ka maka, poʻohiwi, a me nā mākala lima luna. Eia nō naʻe, hiki ke hoʻopili i nā mākala a puni ke pelvis, nā pūhaka, a me ka wāwae lalo.

Hiki ke ʻike ʻia nā ʻōuli ma hope o ka hānau ʻana (puka pēpē), akā ʻaʻole pinepine lākou e kū a hiki i ka makahiki 10 a hiki i ka 26. Eia nō naʻe, ʻaʻole ia he mea maʻamau ke ʻike ʻia nā ʻōuli ma hope loa o ke ola. I kekahi mau hihia, ʻaʻole ulu nā ʻōuli.

Hōʻalo pinepine nā ʻōuli a lohi loa i lilo i mea ʻino. Maʻalahi ka nāwaliwali o ka maka o ka maka, a hiki ke hoʻopili ʻia:

• E hāʻule ana ka ʻōmaka
• Hiki ʻole ke wīwī ma muli o ka nāwaliwali o nā mākala o ka papalina
• Hoemi i ka helehelena o ka helehelena ma muli o ka nāwaliwali o nā mākala maka
• Ka helehelena kaumaha a huhū paha
• Pilikia ka hoʻopuka ʻana i nā huaʻōlelo
• ʻO ka paʻakikī i luna o ka pae poʻohiwi

ʻO ka nāwaliwali o nā ʻūhā poʻohiwi ke kumu o nā hemahema e like me ka haʻi ʻana i nā poʻohiwi poʻohiwi (winging scapular) a me nā poʻohiwi ʻūlū. He paʻakikī ka paʻakikī o ke kanaka e hāpai i nā lima no ka nāwaliwali o ka ʻūhā a me ka lima.

Hiki i ka nāwaliwali o nā wāwae lalo ke ʻoi aku ka maikaʻi o ka maʻi. Hoʻopilikia kēia i ka hiki ke pāʻani i nā haʻuki no ka emi o ka ikaika a me ke kaulike maikaʻi ʻole. Hiki ke kaumaha loa ka nāwaliwali e hoʻopilikia i ka hele wāwae. Hoʻohana ka hapa liʻiliʻi o ka poʻe i kahi noho huila.

Aia kaʻeha mau ma 50% a 80% o ka poʻe me kēia ʻano o ka mustrular dystrophy.

Hiki ke lohe i ka nalo ʻana o ka naʻau a me nā puʻuwai abnormal akā ʻano laha ʻole.

E hōʻike kahi hoʻokolohua kino i ka nāwaliwali o ka maka a me nā mākala poʻohiwi a me ka ʻēheu scapular. Hiki i ka nāwaliwali o nā mākala hope ke kumu i ka scoliosis, ʻoiai ka nāwaliwali o nā mākala o ka ʻōpū ke kumu o ka ʻōpū palu. Hoʻomaopopo ʻia ke kahe kiʻekiʻe, akā maʻalahi ka haʻahaʻa. Hōʻike paha kahi hoʻokolohua maka i nā loli o nā kīʻaha koko ma ka hope o ka maka.

ʻO nā hoʻāʻo e hana ʻia ana paha:

• Hōʻike kinine Creatine (kiʻekiʻe iki paha)
• ʻO ka hoʻāʻo ʻana iā DNA
• Electrocardiogram (ECG)
• EMG (electromyography)
• Fluorescein angiography
• ʻO ka hoʻāʻo genetic o chromosome 4
• Nā hoʻāʻo hoʻolohe
• Musopa biopsy (e hoʻokūpaʻa i ke kuhi)
• Hōʻike ʻike
• Hōʻike Cardiac
• ʻO nā kukuna X o ka iwi kuamoʻo e hoʻoholo inā aia kekahi scoliosis
• Nā hoʻāʻo hana pulmonary

I kēia manawa, facioscapulohumeral muscular dystrophy koe ka maʻi ʻole. Hāʻawi ʻia nā mālama ʻana e kāohi i nā ʻōuli a hoʻomaikaʻi i ke ola. Paipai ʻia ka hana. ʻO ka hana ʻole e like me ka hiamoe hiki ke hōʻeha i ka maʻi muscle.

Hiki i ke olakino hoʻoikaika kino ke mālama i ka ikaika o nā mākala. ʻO nā ʻano hana kūpono ʻē aʻe e pili pū me:

• ʻO ka hana ʻoihana e kōkua ai i ka hoʻomaikaʻi ʻana i nā hana o ka nohona o kēlā me kēia lā.
• ʻO ka albuterol waha e hoʻonui ai i ka nui o nā mākua (akā ʻaʻole ka ikaika).
• ʻ .lelo haʻi ʻōlelo.
• ʻO ke keʻoki e hoʻoponopono ai i kahi scapula eheu.
• Nā kōkua kōkua hele wāwae a me nā kākoʻo wāwae inā loaʻa ka nāwaliwali o nā kuʻekuʻe wāwae.
• ʻO BiPAP e kōkua i ka hanu ʻana. ʻO oxygen wale nō e hōʻalo ʻia i nā mea maʻi me kahi kiʻekiʻe CO2 (hypercarbia).
• Nā lawelawe aʻoaʻo (psychiatrist, psychologist, social worker).

Liʻiliʻi pinepine ka hemahema. ʻAʻole pili pinepine ke ola.

Komo pū nā pilikia:

• Hoʻoemi i ka neʻe.
• Ua emi ka hiki ke mālama iā ʻoe iho.
• Nā hiʻohiʻona o ka maka a me nā poʻohiwi.
• Lohe hoʻolohe.
• Lilo ka hihiʻo (laha ʻole).
• Ka lawa ʻole o ka hanu ʻana. (E kamaʻilio pono me kāu mea mālama ola ma mua o ka loaʻa ʻana o ka anesthesia ākea.)

Kāhea i kāu mea hāʻawi inā ulu nā ʻōuli o kēia ʻano.

Paipai ʻia ka ʻōlelo aʻoaʻo genetic no nā kāne me ka moʻolelo ʻohana o kēia maʻi e makemake ana e hānau keiki.

ʻO Landouzy-Dejerine muscular dystrophy

• Nā mākala mua ma mua

ʻO Bharucha-Goebel DX. Nā maʻi maʻi muscular. I: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. ʻO Puka Textbook of Pediatrics ʻo Nelson. 21st ed. Piladelapia, PA: Elsevier; 2020: chap 627.

Preston DC, Shapiro BE. ʻO ka nawaliwali kokoke, distal, a me nā ʻano maʻamau. I: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, eds. ʻO Bradley's Neurology i ka hana lapaʻau. ʻEpekema 7 Piladelapia, PA: Elsevier; 2016: chap 27.

ʻO Warner WC, Sawyer JR. Nā maʻi Neuromuscular. I: Azar FM, Beaty JH, Canale ST, hua. ʻO Campbell's Operative Orthopedics. 13th ed. Piladelapia, PA: Elsevier; 2017: chap 35.