WordNet
- an impairment of health or a condition of abnormal functioning
- caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes" (同)morbid, pathologic, pathological
PrepTutorEJDIC
- (体の)『病気』,疾患 / (精神・道徳などの)病気,病弊
- 女性の話術芸人 =diseur
- 病気にかかった / 病的な,不健全な(morbid)
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2013/07/12 07:40:44」(JST)
[Wiki en表示]
Alpers' disease |
Classification and external resources |
ICD-10 |
G31.8 |
ICD-9 |
330.8 |
OMIM |
203700 |
DiseasesDB |
29298 |
MeSH |
D002549 |
Alpers' disease, also called Alpers' syndrome,[1] progressive sclerosing poliodystrophy, and progressive infantile poliodystrophy, is a progressive degenerative disease of the central nervous system that occurs mostly in infants and children. It is an autosomal recessive disorder meaning two copies of the defective gene is required for active disease, a single copy conveys carrier status. Alpers' disease is caused by certain genetic mutations in the POLG gene.
Contents
- 1 Presentation
- 2 Treatment
- 3 Prognosis
- 4 Eponym
- 5 References
- 6 External links
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Presentation[edit]
Alpers' formal name is Alpers-Huttenlocher syndrome (AHS). It was first recognized by Alfons Maria Jakob, a German neuropathologist. First signs of the disease, which include intractable seizures and failure to meet meaningful developmental milestones, usually occur in infancy, after the first year of life, but sometimes as late as the fifth year. Primary symptoms of the disease are developmental delay, progressive mental retardation, hypotonia (low muscle tone), spasticity (stiffness of the limbs) possibly leading to quadriplegia, and progressive dementia. Seizures may include epilepsia partialis continua, a type of seizure that consists of repeated myoclonic (muscle) jerks. Optic atrophy may also occur, often leading to blindness. Deafness may also occur. And, although physical signs of chronic liver dysfunction may not be present, many patients suffer liver impairment leading to liver failure. Alpers' disease is caused by an underlying mitochondrial metabolic defect of POLG,.[2] Pathologically, there is status spongiosus of the cerebral grey matter.
Treatment[edit]
There is no cure for Alpers' disease and, currently, no way to slow its progression. Treatment is symptomatic and supportive. Anticonvulsants may be used to treat the seizures. However, caution should be used when selecting valproate as therapy since it may increase the risk of liver failure. Physical therapy may help to relieve spasticity and maintain or increase muscle tone.
Prognosis[edit]
The prognosis for individuals with Alpers' disease is poor. Those with the disease usually die within their first decade of life. Liver failure is usually the cause of death, although cardiorespiratory failure may also occur.
Eponym[edit]
It is named after Bernard Jacob Alpers.[3][4]
References[edit]
- ^ Naudé, J te Water, C M Verity, R G Will, G Devereux, and L Stellitano. (2004.) "Is variant Creutzfeldt-Jakob disease in young children misdiagnosed as Alpers’ syndrome? An analysis of a national surveillance study" Journal of Neurology Neurosurgery and Psychiatry, 2004;75:910-913. (Fee for full text.) Retrieved on 2007-09-27.
- ^ Davidzon, G.; Mancuso, M.; Ferraris, S.; Quinzii, C.; Hirano, M.; Peters, H. L.; Kirby, D.; Thorburn, D. R.; DiMauro, S. : POLG mutations and Alpers syndrome. Ann. Neurol. 57: 921-924, 2005.
- ^ Bernard Jacob Alpers at Who Named It?
- ^ Alpers' disease at Who Named It?
Pathology of the nervous system, primarily CNS (G04–G47, 323–349)
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Inflammation |
Brain
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- Encephalitis
- Viral encephalitis
- Herpesviral encephalitis
- Cavernous sinus thrombosis
- Brain abscess
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Spinal cord
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- Myelitis: Poliomyelitis
- Demyelinating disease
- Tropical spastic paraparesis
- Epidural abscess
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Both/either
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- Encephalomyelitis
- Meningoencephalitis
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Brain/
encephalopathy |
Degenerative
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Extrapyramidal and
movement disorders
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- Basal ganglia disease
- Parkinsonism
- PKAN
- Tauopathy
- Striatonigral degeneration
- Hemiballismus
- HD
- OA
- Dyskinesia
- Dystonia
- Status dystonicus
- Spasmodic torticollis
- Meige's
- Blepharospasm
- Athetosis
- Chorea
- Myoclonus
- Akathisia
- Tremor
- Essential tremor
- Intention tremor
- Restless legs
- Stiff person
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Dementia
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- Tauopathy
- Alzheimer's
- Primary progressive aphasia
- Frontotemporal dementia/Frontotemporal lobar degeneration
- Pick's
- Dementia with Lewy bodies
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Mitochondrial disease
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Demyelinating
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- autoimmune
- Multiple sclerosis
- Neuromyelitis optica
- Schilder's disease
- hereditary
- Adrenoleukodystrophy
- Alexander
- Canavan
- Krabbe
- ML
- PMD
- VWM
- MFC
- CAMFAK syndrome
- Central pontine myelinolysis
- Marchiafava-Bignami disease
- Alpers' disease
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Episodic/
paroxysmal
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Seizure/epilepsy
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- Focal
- Generalised
- Status epilepticus
- Myoclonic epilepsy
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Headache
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Cerebrovascular
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- TIA
- Amaurosis fugax
- Transient global amnesia
- Acute aphasia
- Stroke
- MCA
- ACA
- PCA
- Foville's
- Millard-Gubler
- Lateral medullary
- Weber's
- Lacunar stroke
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Sleep disorders
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- Insomnia
- Hypersomnia
- Sleep apnea
- Obstructive
- Ondine's curse
- Narcolepsy
- Cataplexy
- Kleine-Levin
- Circadian rhythm sleep disorder
- Advanced sleep phase disorder
- Delayed sleep phase disorder
- Non-24-hour sleep-wake disorder
- Jet lag
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CSF
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- Intracranial hypertension
- Hydrocephalus/NPH
- Idiopathic intracranial hypertension
- Cerebral edema
- Intracranial hypotension
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Other
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- Brain herniation
- Reye's
- Hepatic encephalopathy
- Toxic encephalopathy
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Spinal cord/
myelopathy |
- Syringomyelia
- Syringobulbia
- Morvan's syndrome
- Vascular myelopathy
- Foix-Alajouanine syndrome
- Spinal cord compression
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Both/either |
Degenerative
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SA
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- Friedreich's ataxia
- Ataxia telangiectasia
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MND
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- UMN only:
- Primary lateral sclerosis
- Pseudobulbar palsy
- Hereditary spastic paraplegia
- LMN only:
- Distal hereditary motor neuropathies
- Spinal muscular atrophies
- SMA
- SMAX1
- SMAX2
- DSMA1
- Congenital DSMA
- SMA-PCH
- SMA-LED
- SMA-PME
- Progressive muscular atrophy
- Progressive bulbar palsy
- Fazio–Londe
- Infantile progressive bulbar palsy
- both:
- Amyotrophic lateral sclerosis
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anat (n/s/m/p/4/e/b/d/c/a/f/l/g)/phys/devp
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noco (m/d/e/h/v/s)/cong/tumr, sysi/epon, injr
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proc, drug (N1A/2AB/C/3/4/7A/B/C/D)
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External links[edit]
- "Alpers' Disease Information Page". (Website). National Institute of Neurological Disorders and Stroke, U.S. National Institutes of Health.
- "Non-Profit Organization". (Website). Dedicated to research and education for mitochondrial diseases
- "The Nicholas Appeal" (Website). Non-charitable trust
UpToDate Contents
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Japanese Journal
- 臨床的にAlpers症候群と診断し、ミトコンドリア呼吸鎖異常症が確認された1剖検例
- 松丸 重人,舟塚 真,中務 秀嗣 [他],塩田 睦記,平野 嘉子,石垣 景子,宇都 健太,大澤 眞木子
- 東京女子医科大学雑誌 83(E1), E301-E306, 2013-01-31
- … Alpers症候群は、予後不良の進行性神経変性疾患で、原因疾患のひとつにミトコンドリア異常症がある。 … 臨床症状からAlpers症候群が疑われ、血液、髄液、MRS検査で乳酸値の上昇は認められなかったが、剖検での肝臓検体の検索により、ミトコンドリア呼吸鎖異常症が確認された1例を経験したので報告する。 …
- NAID 110009559386
- A mutation in mitochondrial DNA-encoded cytochrome c oxidase II gene in a child with Alpers-Huttenlocher-like disease
- Case report : progressive neuronal degeneration (Alpers-Huttenlocher disease)-seizure free on Topamax add-on therapy
Related Links
- What is Alpers' Disease? Alpers' disease is a progressive, neurodevelopmental, mitochondrial DNA depletion syndrome characterized by three co-occurring clinical symptoms: psychomotor regression (dementia ...
- Many researchers believe that Alpers Syndrome, rather than being a distinct disorder, is a clinical entity (i.e., cerebral gray matter degeneration in association with liver disease) that may be due to a number of different causes. In ...
★リンクテーブル★
[★]
- 疾患:illnessより厳密な概念。「ある臓器に明確な障害が確認され、それによって症状が出ているとはっきり説明できる場合」 (PSY.9)
- 特定の原因、病態生理、症状、経過、予後、病理組織所見が全てそろった場合 (PSY.9)
- something that is very wrong with people's attitudes, way of life or with society.
- 関
- ail、ailment、disease entity、disorder、ill、illness、malady、sick、sickness
- disease ≠ illness ≠ disorder