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Klasifikasi dan bahan-bahan eksternal

Gambar mikroskopik berduri neuron (kuning) dengan inklusi nuklir (oranye), yang terjadi sebagai bagian dari proses penyakit, Lebar gambar 360 μm

ICD-10 G 10. , F 02.2 ICD-9 333.4, 294.1OMIM 143100

DiseasesDB 6060MeSH D006816

George Huntington menjelaskan penyakit ini dalam kertas kerjanya yang terbit tahun 1872.

Penyakit Huntington, chorea Hunting atau chore mairo adalah penyakit yang menyerang saraf. penyakit ini disebabkan oleh faktor genetika, sehingga dapat diwariskan dari orang tua kepada anaknya. penyakit ini menjangkiti sekita 1 dari 20.000 jiwa di Eropa Barat dan 1 dari 30.000 di Amerika Serikat [1]. Nama penyakit ini diambil dari George Huntington yang pertama kali yang pertama kali menjelaskannya pada tahun 1872. Gen penyakit ini bersifat dominan sehingga anak-anak dari orang tua yang menderita penyakit ini berpeluang besar menderita penyakit “Huntington” yakni 50%[2]. Hingga saat ini belum ada obata yang dapat menyembuhkan penyakit ini namun hanya berupa mengurangi gejala dan mengendalikan perilaku penderita[3].

Daftar isi

[sembunyikan]

1 Gejala o 1.1 Gejala fisik o 1.2 Gejala mental o 1.3 Gejala Emosional

2 Lihat Pula 3 Referensi 4 Pranala Luar

[sunting] Gejala

Gejala penyakit ini mucul pada setiap usia, namun rata-rata pada usia 35-44[4]. Pada stadium awal penderita akan mengalami memori miskin, melakukan gerkan abnormal yang secara bertahap akan semakin jelas sehingga mempengaruhi kegiatan normal seperti makan, berpakaian dan dudukterdiam[5]. Berikut ini ringkasan gejalanya:

[sunting] Gejala fisik

• Gerakan taksdar jari-jari, kaki, dan wajah. • Kecanggungan • Kehilangan keseimbangan atau koordinasi. • Cadel pidato • Mengepalkan rahang atau gigi pengiling. • Kesulitan makan. • Stumbling atau jatuh.

[sunting] Gejala mental

• Kelupaan • Hilang konsentrasi • Penilaian buruk • Kesulitan dalam mengambil keputusan • Kesulitan mengemudi

[sunting] Gejala Emosional

• Permusuhan • Kekurangan energy • Minat dalam hidup • Depresi Pada perkembangan lebih lanjut penyakit ini dapat menimbulkan halusinasi, tanpa alasan agresi, dan paranoia.

[sunting] Lihat Pula

• George Paul • Penyakit genetik

Penyakit Huntington (korea Huntington) DEFINISIPenyakit Huntington (korea Huntington) adalah suatu penyakit keturunan dimana sentakan atau kejang dan hilangnya sel-sel otak secara bertahap mulai timbul pada usia pertengahan dan berkembang menjadi korea, atetosis serta kemunduran mental.

Penyakit ini mulai secara samar-samar, sehingga usia pertama kali terjadinya penyakit ini sulit ditentukan. Gejala biasanya mulai muncul pada usia 35-40 tahun.

PENYEBABGen untuk penyakit Huntington bersifat dominan; anak-anak dari orang tua yang menderita penyakit ini memiliki peluang sebesar 50% untuk menderita penyakit Huntington.

GEJALAPada stadium awal penyakit ini, gerakan abnormal bercampur dengan gerakan yang sedang dilakukan oleh penderita sehingga gerakan abnormal tersebut hampir tidak diperhatikan. Tetapi lama-lama gerakan abnormal ini semakin jelas.

Pada akhirnya gerakan abnormal yang terjadi akan mempengaruhi seluruh tubuh sehingga hampir tidak mungkin penderita melakukan kegiatan makan, berpakaian dan bahkan duduk terdiam.

Perubahan mental pada awalnya samar-samar. Penderita secara bertahap menjadi mudah tersinggung dan mudah gembira, mereka bisa kehilangan minat terhadap aktivitas sehari-harinya. Selanjutnya penderita menjadi tidak bertanggungjawab dan seringkali bepergian tanpa tujuan yang pasti. Penderita kehilangan kendali terhadap hasratnya dan menjadi promiskuitas (melakukan hubungan seksual dengan siapa saja.

Bertahun-tahun kemudian, penderita akan kehilangan ingatannya dan kehilangan kemampuannya untuk berfikir secara rasional. Penderita mengalami depresi berat dan melakukan usaha bunuh diri.

Pada stadium lanjut, hampir semua fungsi penderita mengalami gangguan dan penderita memerlukan bantuan orang lain untuk melakukan fungsinya. Kematian seringkali dipicu oleh pneumonia atau karena terjatuh, yang biasanya terjadi 13-15 tahun setelah timbulnya gejala pertama.

DIAGNOSA

Pada pemeriksaan CT scan akan tampak perubahan yang khas di dalam otak.

PENGOBATANObat-obatan hanya membantu mengurangi gejala dan mengendalikan perilaku penderita, tetapi tidak dapat menyembuhkan penyakit ini.

PENCEGAHANUntuk keluarga dengan riwayat penyakit Huntington, sebaiknya melakukan penyuluhan genetik dan pemeriksaaan untuk mengetahui resiko menurunkan penyakit ini kepada anak-anaknya.

Huntington's Chorea Disease & Symptoms:

Dr. George Huntington of Long Island, New York first described this disease in 1872.

Huntington's Chorea is inherited, degenerative disorder of the Central Nervous System caused by a dominant gene. If one person's parents has developed this disease there is a 50% chance their children will inherit it. The symptoms generally start around 35 years of age, but can onset later. This disease causes dysfunctional movements (often referred too as 'clumsiness' in it's earlier stages), but as the disease progresses the movements of the person become uncontrollable. The movements and body postures appear bizarre. Other symptoms include: Forgetfulness; irritability and as the disease progresses dementia, memory loss and severe anger outbursts as well as lack of reasoning.

Patients suffering from Huntington's Chorea show degenerative changes in the basal ganglia structures, which ultimately result in a severely shrunken brain and enlarged ventricles.

The symptoms are caused by a significant reduction in volume and activity of two principle neurotransmitters (naturally occurring chemicals in the brain) called Acetylcholine and GABA and, in turn affecting the activity of the neurotransmitter Dopamine which becomes hyperactive.

Medications can ease the symptoms (including the use of dopamine antagonists or neuroleptics) but, there may be severe side effect. There is no cure for Huntington's Chorea. However, new techniques involving neural grafting (implanting healthy fetal brain cells into the damaged area) may offer hope for the sufferer in the near future.

This disease may continue relentlessly for 10 to 20 years and cause of death is commonly heart disease after a severe illness or due to falls or choking.

There is hope! Scientists are getting closer to a cure for this disease and in the near future they will be advanced treatments and medications.

Penyakit Huntington Fakta Penyakit Huntington adalah kelainan otak

degeneratif yang diwarisi. Menghasilkan perubahan fisik dan mental dalam individu. Ini mempengaruhi

 

sekitar 1 dalam 30.000 di Amerika Serikat.

Penyakit ini mempengaruhi kemampuan seseorang untuk berpikir, berbicara dan bergerak. Huntington's adalah warisan dari salah satu atau kedua orang tuanya. Gangguan ini diberi nama setelah dokter Amerika George Huntington, yang digambarkan dengan tepat pada tahun 1872.

Penyakit Huntington Fakta:

Gejala-gejala dapat muncul pada setiap usia, tetapi usia rata-rata onset penyakit adalah 35 44 tahun usia. Gejala umum dalam tahap awal termasuk memori miskin, kesulitan dalam pembuatan keputusan, perubahan mood, gerakan yang tidak terkendali, kesulitan berjalan, berbicara dan menelan. Berikut ini adalah ringkasan dari gejala.

Gejala fisik:

Gerakan tak sadar jari-jari, kaki, wajah atau batang Kecanggungan Kehilangan keseimbangan dan koordinasi Cadel pidato Mengepalkan rahang atau gigi penggiling Kesulitan makan Stumbling atau jatuh

Gejala mental:

Kelupaan Hilang konsentrasi Penilaian buruk Kesulitan dalam pengambilan keputusan Kesulitan mengemudi

Gejala emosional:

Permusuhan Kekurangan energi Minat dalam hidup Depresi

Ketika penyakit berkembang lebih lanjut, dapat menimbulkan halusinasi, tanpa alasan agresi, dan paranoia.

Saat ini tidak ada obat untuk penyakit ini dan kondisi yang ireversibel. Kondisi ini autosom dominan dan Warisan cacat diteruskan oleh salah satu orangtua. Keturunan memiliki 50 persen kemungkinan mewarisi kekacauan.

http://www3.interscience.wiley.com/journal/122221885/abstract

Huntington's Disease Also called: HD, Huntington's chorea

Huntington's disease (HD) is an inherited disease that causes certain nerve cells in the brain to waste away. People are born with the defective gene, but symptoms usually don't appear until middle age. Early symptoms of HD may include uncontrolled movements, clumsiness or balance problems. Later, HD can take away the ability to walk, talk or swallow. Some people stop recognizing family members. Others are aware of their environment and are able to express emotions.

If one of your parents has Huntington's disease, you have a 50-50 chance of getting it. A blood test can tell if you have the HD gene and will develop the disease. Genetic counseling can help you weigh the risks and benefits of taking the test.

There is no cure. Medicines can help manage some of the symptoms, but cannot slow down or stop the disease.

National Institute of Neurological Disorders and Stroke

What is Huntington disease?

Huntington disease is a progressive brain disorder that causes uncontrolled movements, emotional problems, and loss of thinking ability (cognition).

Adult-onset Huntington disease, the most common form of this disorder, usually appears in a person's thirties or forties. Early signs and symptoms can include irritability, depression, small involuntary movements, poor coordination, and trouble learning new information or making decisions. Many people with Huntington disease develop involuntary jerking or twitching movements known as chorea. As the disease progresses, these movements become more pronounced. Affected individuals may have trouble walking, speaking, and swallowing. People with this disorder also experience changes in personality and a decline in thinking and reasoning abilities. Individuals with the adult-onset form of Huntington disease usually live about 15 to 20 years after signs and symptoms begin.

A less common, early-onset form of Huntington disease begins in childhood or adolescence. It also involves movement problems and mental and emotional changes. Additional signs of the early-onset form include slow movements, clumsiness, frequent falling, rigidity, slurred speech, and drooling. School performance often declines as thinking and reasoning abilities become impaired. Seizures occur in 30 percent to 50 percent of children with this condition. Early-onset Huntington disease tends to progress more quickly than the adult-onset form; affected individuals usually live 10 to 15 years after signs and symptoms appear.

How common is Huntington disease?

Huntington disease affects an estimated 3 to 7 per 100,000 people of European ancestry. The

disorder appears to be less common in some other populations, including people of Japanese, Chinese, and African descent.

What genes are related to Huntington disease?

Mutations in the HTT gene cause Huntington disease. The HTT gene provides instructions for making a protein called huntingtin. Although the function of this protein is unknown, it appears to play an important role in nerve cells (neurons) in the brain.

The HTT mutation that causes Huntington disease involves a DNA segment known as a CAG trinucleotide repeat. This segment is made up of a series of three DNA building blocks (cytosine, adenine, and guanine) that appear multiple times in a row. Normally, the CAG segment is repeated 10 to 35 times within the gene. In people with Huntington disease, the CAG segment is repeated 36 to more than 120 times. People with 36 to 40 CAG repeats may or may not develop the signs and symptoms of Huntington disease, while people with more than 40 repeats almost always develop the disorder.

An increase in the size of the CAG segment leads to the production of an abnormally long version of the huntingtin protein. The elongated protein is cut into smaller, toxic fragments that bind together and accumulate in neurons, disrupting the normal functions of these cells. The dysfunction and eventual death of neurons in certain areas of the brain underlie the signs and symptoms of Huntington disease.

Read more about the HTT gene.

How do people inherit Huntington disease?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. An affected person usually inherits the altered gene from one affected parent. In rare cases, an individual with Huntington disease does not have a parent with the disorder.

As the altered HTT gene is passed from one generation to the next, the size of the CAG trinucleotide repeat often increases in size. A larger number of repeats is usually associated with an earlier onset of signs and symptoms. This phenomenon is called anticipation. People with the adult-onset form of Huntington disease typically have 40 to 50 CAG repeats in the HTT gene, while people with the early-onset form of the disorder tend to have more than 60 CAG repeats.

Individuals who have 27 to 35 CAG repeats in the HTT gene do not develop Huntington disease, but they are at risk of having children who will develop the disorder. As the gene is passed from parent to child, the size of the CAG trinucleotide repeat may lengthen into the range associated with Huntington disease (36 repeats or more).

Where can I find information about diagnosis, management,

or treatment of Huntington disease?

These resources address the diagnosis or management of Huntington disease and may include treatment providers.

DNA Test

Gene Review

MedlinePlus Encyclopedia: Huntington's Disease

University of Washington Medical Center: Testing for Huntington Disease: Making an

Informed Choice

You might also find information on the diagnosis or management of Huntington disease in Educational resources and Patient support.

To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.

Where can I find additional information about Huntington disease?

You may find the following resources about Huntington disease helpful. These materials are written for the general public.

MedlinePlus - Health information (2 links)

Genetic and Rare Diseases Information Center - Information about genetic conditions and rare diseases

Additional NIH Resources - National Institutes of Health (4 links) Educational resources - Information pages (12 links) Patient support - For patients and families (9 links)

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

Gene Reviews - Clinical summary

Gene Tests - DNA tests ordered by healthcare professionals

Genetic Tools - Teaching cases

ClinicalTrials.gov - Linking patients to medical research

PubMed - Recent literature Online Books - Medical and science texts

Scriver's Online Metabolic and Molecular Bases of Inherited Disease (OMMBID):

Huntington Disease

OMIM - - Genetic disorder catalog

What other names do people use for Huntington disease?

Huntington chorea Huntington Chronic Progressive Hereditary Chorea Huntington's Disease Progressive Chorea, Chronic Hereditary (Huntington)

See How are genetic conditions and genes named? in the Handbook.

What if I still have specific questions about Huntington disease?

Ask the Genetic and Rare Diseases Information Center . Submit your question to Ask the Geneticist .

Where can I find general information about genetic conditions?

The Handbook provides basic information about genetics in clear language.

What does it mean if a disorder seems to run in my family? What are the different ways in which a genetic condition can be inherited? If a genetic disorder runs in my family, what are the chances that my children will have

the condition? Why are some genetic conditions more common in particular ethnic groups?

These links provide additional genetics resources that may be useful.

Genetics and health Resources for Patients and Families Resources for Health Professionals

What glossary definitions help with understanding

Huntington disease?

adenine ; allele ; anticipation ; autosomal ; autosomal   dominant  ; cell ; chorea ; chronic ; cognition ; cytosine ; depression ; DNA ; gene ; guanine ; involuntary ; mutation ; nerve   cell  ; neuron ; population ; protein ; seizure ; sign ; symptom ; toxic ; trinucleotide   repeat

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (8 links)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.  

Stages of HD

Publications for Download

 

Although symptoms of HD vary from person to person, even within the same family, the progression of the disease can be roughly divided into three stages.

Early Stage HD

Early Stage HD usually includes subtle changes in coordination, perhaps some involuntary movements (chorea), difficulty thinking through problems and often, a depressed or irritable mood. Medications are often effective in treating depression or other emotional problems. The effects of the disease may make the person less able to work at their customary level and less functional in their regular activities at home.

 

Middle Stage HD

 

In the Middle Stage, the movement disorder may become more of a problem. Medication for chorea may be considered to provide relief from involuntary movement. Occupational and physical therapists may be needed to help maintain control of voluntary movements and to deal with changes in thinking and reasoning abilities. Diminished speech and difficulty swallowing may require help from a speech language pathologist. Ordinary activities will become harder to do.

 

Late Stage HD

 

In the Late Stage, the person with HD is totally dependent on others for their care. Choking becomes a major concern. Chorea may be severe or it may cease. At this stage, the person with HD can no longer  walk and will be unable to speak. However, he or she is generally still able to comprehend language and retains an awareness of family and friends. When a person with HD dies, it is typically from complications of the disease, such as choking or infection and not from the disease itself.

 

In all stages of HD, weight loss can be an important complication that can correspond with worsening symptoms and should be countered by adjusting the diet and maintaining appetite.

Obat http://content.nejm.org/cgi/content/full/343/13/973

Making connection http://content.nejm.org/cgi/content/short/356/5/518