Distrofia Muscular Progressive, Amyotrophic Lateral Sclerosis, Miastenia Gravis

[RAP]

Judul diatas merupakan nama penyakit yang mungkin akan diultimatum ke kakak keduaku...dalam waktu seminggu terhitung hari ini.
Terus terang baru kemarin aku tau nama penyakit ini dan hari ini mulai googling..duh nyesek rasanya...
Temen2 ada yang tau ttg penyakit ini lebih rinci...?
Mohon bantuannya ya....walau sedikit pasti sangat membantu apa lagi kalo banyak..
Thanks sebelumnya(emot hormat 3 kali)

[RAP]

What is Muscular Dystrophy?
The muscular dystrophies (MD) are a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in infancy or childhood, while others may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance.
Duchenne MD is the most common form of MD and primarily affects boys. It is caused by the absence of dystrophin, a protein involved in maintaining the integrity of muscle. Onset is between 3 and 5 years and the disorder progresses rapidly. Most boys are unable to walk by age 12, and later need a respirator to breathe. Girls in these families have a 50 percent chance of inheriting and passing the defective gene to their children. Boys with Becker MD (very similar to but less severe than Duchenne MD) have faulty or not enough dystrophin.
Facioscapulohumeral MD usually begins in the teenage years. It causes progressive weakness in muscles of the face, arms, legs, and around the shoulders and chest. It progresses slowly and can vary in symptoms from mild to disabling.
Myotonic MD is the disorder's most common adult form and is typified by prolonged muscle spasms, cataracts, cardiac abnormalities, and endocrine disturbances. Individuals with myotonic MD have long, thin faces, drooping eyelids, and a swan-like neck.

Is there any treatment?

There is no specific treatment to stop or reverse any form of MD. Treatment may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, and corrective orthopedic surgery. Drug therapy includes corticosteroids to slow muscle degeneration, anticonvulsants to control seizures and some muscle activity, immunosuppressants to delay some damage to dying muscle cells, and antibiotics to fight respiratory infections. Some individuals may benefit from occupational therapy and assistive technology. Some patients may need assisted ventilation to treat respiratory muscle weakness and a pacemaker for cardiac abnormalities.
What is the prognosis?

The prognosis for people with MD varies according to the type and progression of the disorder. Some cases may be mild and progress very slowly over a normal lifespan, while others produce severe muscle weakness, functional disability, and loss of the ability to walk. Some children with MD die in infancy while others live into adulthood with only moderate disability.
What research is being done?

The NINDS supports a broad program of research studies on MD. The goals of these studies are to understand MD and to develop techniques to diagnose, treat, prevent, and ultimately cure the disorder.
The NINDS is a member of the Muscular Dystrophy Coordinating Committee (MDCC). For additional information, please visit:
http://www.ninds.nih.gov/find_people...mdcc/index.htm

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Amyotrophic Lateral Sclerosis*
Definition
Amyotrophic lateral sclerosis (ALS) is a disease that breaks down tissues in the nervous system (a neurodegenerative disease) of unknown cause that affects the nerves responsible for movement. It is also known as motor neuron disease and Lou Gehrig's disease, after the baseball player whose career it ended.
Description
ALS is a disease of the motor neurons, those nerve cells reaching from the brain to the spinal cord (upper motor neurons) and the spinal cord to the peripheral nerves (lower motor neurons) that control muscle movement. In ALS, for unknown reasons, these neurons die, leading to a progressive loss of the ability to move virtually any of the muscles in the body. ALS affects "voluntary" muscles, those controlled by conscious thought, such as the arm, leg, and trunk muscles. ALS, in and of itself, does not affect sensation, thought processes, the heart muscle, or the "smooth" muscle of the digestive system, bladder, and other internal organs. Most people with ALS retain function of their eye muscles as well. However, various forms of ALS may be associated with a loss of intellectual function (dementia) or sensory symptoms.
ALS progresses rapidly in most cases. It is fatal within three years for 50% of all people affected, and within five years for 80%. Ten percent of people with ALS live beyond eight years.

[AsLan]

wah serem2...
semoga hasil nya tidak begitu.

[RAP]

Iya om aslan...
Itu harapanku....
Tapi harus nunggu seminggu lagi..

---------- Post Merged at 10:31 PM ----------

Definition
Myasthenia gravis is an autoimmune disease that causes muscle weakness.
Description
Myasthenia gravis (MG) affects the neuromuscular junction, interrupting the communication between nerve and muscle, and thereby causing weakness. A person with MG may have difficulty moving their eyes, walking, speaking clearly, swallowing, and even breathing, depending on the severity and distribution of weakness. Increased weakness with exertion, and improvement with rest, is a characteristic feature of MG.
About 30,000 people in the United States are affected by MG. It can occur at any age, but is most common in women who are in their late teens and early twenties, and in men in their sixties and seventies.
Causes and symptoms
Myasthenia gravis is an autoimmune disease, meaning it is caused by the body's own immune system. In MG, the immune system attacks a receptor on the surface of muscle cells. This prevents the muscle from receiving the nerve impulses that normally make it respond. MG affects "voluntary" muscles, which are those muscles under conscious control responsible for movement. It does not affect heart muscle or the "smooth" muscle found in the digestive system and other internal organs.
A muscle is stimulated to contract when the nerve cell controlling it releases acetylcholine molecules onto its surface. The acetylcholine lands on a muscle protein called the acetylcholine receptor. This leads to rapid chemical changes in the muscle which cause it to contract. Acetylcholine is then broken down by acetylcholinesterase enzyme, to prevent further stimulation.
In MG, immune cells create antibodies against the acetylcholine receptor. Antibodies are proteins normally involved in fighting infection. When these antibodies attach to the receptor, they prevent it from receiving acetylcholine, decreasing the ability of the muscle to respond to stimulation.
Why the immune system creates these self-reactive "autoantibodies" is unknown, although there are several hypotheses:
During fetal development, the immune system generates many B cells that can make autoantibodies, but B cells that could harm the body's own tissues are screened out and destroyed before birth. It is possible that the stage is set for MG when some of these cells escape detection.
Genes controlling other parts of the immune system, called MHC genes, appear to influence how susceptible a person is to developing autoimmune disease.
Infection may trigger some cases of MG. When activated, the immune system may mistake portions of the acetylcholine receptor for portions of an invading virus, though no candidate virus has yet been identified conclusively.
About 10% of those with MG also have thymomas, or benign tumors of the thymus gland. The thymus is a principal organ of the immune system, and researchers speculate that thymic irregularities are involved in the progression of MG.

[ndugu]

Waduh. Im sorry to hear that
Saya pernah denger tentang ALS - ini kan yang juga diderita oleh stephen hawking kan
Memang cukup serem, ga mudah hidup dengan als. tapi saya ga mo ngomongin yang serem2nya deh
Kakak rap udah di stage apa?

[etca]

ini yang dibahas di FB Dalam 9 bln turun 17 kg n sampai saat ini blm ketauan sakit apa....?
otot paha juga mengecil?
trus beliau masih bisa jalan kan?
mogamoga cepet ketahuan sakitnya apa dan bisa segerap dipulihkan.

ini koko yg di sukabumi bukan? yg suka ngajarin kenken?

[RAP]

@ndugu
Tahapnya aku ngak tau udh sampe mana yg pasti pahanya lebih kecil dr betis
jadi saat ini sdh lumpuh boro boro berdiri n jalan mengeser kakinya Aja perluproses bantuan tangan.
Sementara otot lengan juga mulai mengecil Dan mulai kehilangan kekuatan.

@etca
Iya tca.. yg ku publish di FB
kokoku yg satu ini rada ngeselin, sakit begitu parah ngak mau ngabarin.
Aku taunya Aja saat mau ngasih undangan yg dititipin temen.
Trus kubilang Aja kupublish ke temen temen biar Ada yg jengukin... krn waktu itu keliatan dia ngak semangat. Eh bener Aja... kemarin yg datang banyak bgt...
Dia kan temennya lebih banyak dr aku padahal temenku n temen dia sama loh... Kitakan Kaya kembar klu sklh selevel...
Dan etca betul lagi itu Koko yg Pinter matematika...yg suka ngajarin kenken..
Nah jaman sklh dulu sgt popular... n jadi idola... Itu tuh alasannya dia lebih banyak temen dr aku...
Habis publish ke fb Aja banyak yg tlp aku ... Ada yg sambil ngomel katanya aku ngak perhatian sama dia

Kebayangkan udh tuir gini Aja aku msh dibawah bayang2 dia apa lg jaman sekolah dulu
Tapi aku sih cueklah... yg penting dia diperhatiin bnyk org n mulai semangat lagi...
Pagi ini mau di biopsi... tegang NIH...

[lily]

cepet cembuh ya Koko...

GBU always...

[RAP]

Baru dapat kabar...
saat biopsi otot kelihatan pucat jadi diagnosa dokter sementara ini DMP
Jadi ngak boleh pulang harus disuntik tiap hari.
Lemes.....
Tolong ya.....para kopiers kalo ada info ttg DMP....

[lily]

DMP = Kerusakan otot yang progresif.

MG = Gangguan sistem penghantar listrik saraf sehingga otot cepat lelah.

[bradon heat]

distrofi muskular atau distropi (pengecilan) otot
merupakan kelompok gangguan oto kronik yg dikarakteristikan oleh kelemahan dan penyusutan otot
kebanyakan penyakit ini adalah turunan > resikonya lebih besar

gejala klinis nya :
-degenerasi atau hilangnya serat-serat otot , ukuran otot
-fagositosis dan regenerasi serta pergantian jaringan otot jadi jaringan penyambung

yups diagnosanya pake biopsi dan EMG ..

kalau yg saya pelajari , penanganan pada saat ini berfokus pada perawatan pendukung dan pencegahan komplikasi
penatalaksanaan suportif
ini gunanya mempertahankan fungsi senormal mungkin serta meminimalkan penyimpangan fungsional
proglam latihan terapeutik guna mencegah ketegangan otot, kontraktur, dan luka gangren , misalnya peregangan pada daerah kaki , lutut dan pinggul


maaf bertanya , ada gangguan pernapasan juga gk ?? untuk berbicara apakah masih lancar ? duduk atau meluruskan punggung apakah masih bisa juga ??
karena takutnya sudah ada kelemahan otot pada daerah dada, atau pun tulang belakang nya ...

[RAP]

Thanks buat lily

Thanks juga buat brandon
saat ini masih bisa duduk, bernafas juga masih oke
Jadi saat ini otot paha mengecil kaki juga baal terus ngak bisa merespon perintah otak
Untuk menggerakkan dari pangkal paha ke bawah perlu bantuan tangan. Tapi dua hari yg lalu pas makan bubur ngak lama kemudian buburnya malah keluar lewat hidung. Kelihatannya sudah mulai mempengaruhi otot leher.
Daat ini di beri injeksi methycobal dan ubi-q sampai hasil biopsi keluar
Ada saran brandon?
Udah kucoba cari data tapi kurang memuaskan
Tq ya brandon

[bradon heat]

methycobal dan ubi-q

yg satu vit 12 dan satu lagi buat antioksidan ...

Ada saran brandon?

well , untuk saran sih paling untuk mencegah kontraktur otot ,
tinggal di gerak-gerakin pasif untuk mencegah pengecilan otot
kalau tidur terus , setiap 1-2 jam ganti posisi , bisa duduk/miring kanan-kiri dll.
kalau misalnya terjadi konstipasi bisa dikasih serat ,minum yg cukup
sediakan waktu untuk melakukan aktivitas2 yg sederhana
pantau pola napas nya , bisa juga kalau mau pake fisioterapi
dan jangan lupa dukungan emosional dari keluarga dan teman2 sangat penting ..


kalau bisa diskusi terus sama dokternya

[RAP]

Thanks ndon...
sekalian mau tanya apa bisa kalo dia latihan pernapasan bisa sembuh.
Aku ada baca testimoni dr seorang ibu tapi dia kena MG
Tadi koko ku tanya apa aku googling ttg penyakit ini trus bilang udah ditemukan belum obatnya sekarang...
bingung mau jawab apa...
Dari kmrn dia n istrinya berharap ada jalan keluar. Padahal aku udh 2 hari search... nihil...

[AsLan]

udah baca yg ini belum :

http://www.distrofiamuscular.net/news.htm

penelitian2 terbaru tentang distrofia muscular, update terus tuh disitu

---------- Post Merged at 10:14 PM ----------

banyak penelitian menarik disitu, tapi bahasanya njelimet...

Results.

Fish oil decreased creatine kinase and myonecrosis. In all muscles studied, the inflammatory area was significantly reduced after treatment (18.0 ± 3.0% inflammatory area in untreated mdx mice vs 4.0 ± 1% in treated mdx mice). Fish oil protected against
the loss of muscle strength. Fish oil significantly reduced the levels of TNF-α and the levels of 4-HNE-protein adducts (30 to 34% reduction for both) in all muscles studied.

Conclusions.
Commercially available fish oil may be potentially useful to ameliorate dystrophic progression of skeletal muscles, deserving further clinical trials in DMD patients.

[etca]

Belum bisa bantu banyak
kurasa kalau dari sisi medis, mungkin lebih pakar si dokternya.
bagi sisi mbak RAP adalah sisi pendampingannya.
pernah sharing ama tukang gorengan, err nick anak yak.
intinya si penderita dibuat seneng aja, justru pendamping yang diminta mempersiapkan mentalnya.
bahkan pada saat sessi konseling, konseling tsb bukan untuk si penderita namun bagi pendamping.
sori kalau agak OOT. nanti kalau ada info bakalan di post d

[etca]

banyak penelitian menarik disitu, tapi bahasanya njelimet...

ya iyalah itu bahasa dewa medis semua.

kalau bisa sih dapat info "sirikane" opo, kalau orang jawa bilang
alias tindakan apa yg bisa kita lakukan agar tidak memperparah kondisi pasien
perlakuan apa yang boleh, dan perlakuan apa yang tidak boleh.

stalking orang jauuuh lebih mudah ketimbang mengorek info ttg penyakit yg diderita sodaramu sendiri.
karena gugling info ttg penyakit yg diderita sodaramu sendiri butuh persiapan mental juga.
itu istrinya kudu dimotivasi mbak, supaya ga down dengan apapun yang terjadi.
semoga harapan baik yang terjadi. amin.

[AsLan]

gak ada salahnya search hasil riset terbaru, kadang2 dokter terlalu sibuk dengan pekerjaannya dan gak sempet update berita terbaru.

[Fere]

Ngga bisa bantu banyak, ngga mudeng masalah ginian,
cuman bisa doain semoga keluarga mbak RAP baik2 aja..

[RAP]

Thanks buat etca lily aslan brandon fere dll. Saat ini memang yg aku butuhindukungan n hiburan dr temen2

Padahal hr ini udh janji mau nemenin eh...aiko sakit dr malem badannya angget
padahal udh janji bawa nasi uduk. Mana istrinya udh pulang kan harus kerja....