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Alpers' disease

**Alpers' disease**
*Classification & external resources*
ICD-10	G31.8
ICD-9	330.8
OMIM	203700
DiseasesDB	29298
MeSH	D002549

Alpers' disease, also called Alpers' syndrome,^[1] progressive neuronal degeneration of childhood,^[1] progressive sclerosing poliodystrophy, and progressive infantile poliodystrophy, is a progressive degenerative disease of the central nervous system that occurs in infants and children. It is an autosomal recessive disorder that is sometimes seen in siblings.

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1 Presentation
2 Treatment
3 Prognosis
4 Eponym
5 Notes
6 References

Presentation

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. While some researchers believe that Alpers' disease is caused by an underlying metabolic defect, no consistent defect has been identified. Pathologically, there is status spongiosus of the cerebral grey matter.

Treatment

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

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

It is named for Bernard Jacob Alpers.^[2]^[3]^[4]

Notes

^ ^a ^b 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.
^ Bernard Jacob Alpers at Who Named It
^ Alpers' disease at Who Named It
^ B. J. Alpers. Diffuse progressive degeneration of the grey matter of the cerebrum. Archives of Neurology and Psychiatry, Chicago, 1931, 25: 469-505.

References

"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

v • d • e Nervous system pathology, primarily CNS (G00-G47, 320-349)
Inflammatory diseases of the CNS	Meningitis (Arachnoiditis) - Encephalitis - Myelitis - Encephalomyelitis (Acute disseminated) - Tropical spastic paraparesis
Systemic atrophies primarily affecting the CNS	Huntington's disease - Spinocerebellar ataxia (Friedreich's ataxia, Ataxia telangiectasia, Hereditary spastic paraplegia) Spinal muscular atrophy: Werdnig-Hoffman disease - Kugelberg-Welander disease - Fazio Londe syndrome - MND (Amyotrophic lateral sclerosis (ALS), Progressive muscular atrophy (PMA), Progressive bulbar, Pseudobulbar, PLS)
Extrapyramidal and movement disorders	Parkinson's disease - Neuroleptic malignant syndrome - Postencephalitic parkinsonism - Pantothenate kinase-associated neurodegeneration - Progressive supranuclear palsy - Striatonigral degeneration - Dystonia (Spasmodic torticollis, Meige's syndrome, Blepharospasm) - Essential tremor - Myoclonus - Chorea (Choreoathetosis) - Restless legs syndrome - Stiff person syndrome
Other degenerative / demyelinating diseases	Alzheimer's disease - Pick's disease - Alpers' disease - Dementia with Lewy bodies - Leigh's disease - Multiple sclerosis - Devic's disease - Central pontine myelinolysis - Transverse myelitis
Seizure/epilepsy	Focal (Simple partial, Complex partial) - Generalised (Tonic-clonic, Absence, Atonic, Benign familial neonatal) - Lennox-Gastaut - West - Epilepsia partialis continua - Status epilepticus (Complex partial status epilepticus)
Headache	Migraine (Familial hemiplegic) - Cluster - Vascular - Tension
Vascular	Transient ischemic attack (Amaurosis fugax, Transient global amnesia) - Cerebrovascular disease (MCA, ACA, PCA, Foville's syndrome, Millard-Gubler syndrome, Lateral medullary syndrome, Weber's syndrome, Lacunar stroke)
Sleep disorders	Insomnia - Hypersomnia - Sleep apnea (Ondine's curse) - Narcolepsy - Cataplexy - Kleine-Levin syndrome - Circadian rhythm sleep disorder - Delayed sleep phase syndrome - Advanced sleep phase syndrome
Other	Hydrocephalus (Normal pressure) - Idiopathic intracranial hypertension - Encephalopathy - Brain herniation - Cerebral edema - Reye's syndrome - Syringomyelia - Syringobulbia - Spinal cord compression

Category: Neurological disorders

This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Alpers'_disease". A list of authors is available in Wikipedia.