Alpers' disease: Difference between revisions

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==Treatment==
==Treatment==
'''Medical Therapy'''
'''Medical Therapy'''
There is no treatment for Alpers disease; the mainstay of therapy is supportive care.
*There is no treatment for Alpers disease; the mainstay of therapy is supportive care.
 


'''Surgery'''
'''Surgery'''
Surgical intervention is not recommended for the management of Alpers disease.
*Surgical intervention is not recommended for the management of Alpers disease.


'''Primary Prevention'''
'''Primary Prevention'''
There are no established measures for the primary prevention of Alpers disease.
*There are no established measures for the primary prevention of Alpers disease.


'''Secondary Prevention'''
'''Secondary Prevention'''
There are no established measures for the secondary prevention of Alpers disease.
*There are no established measures for the secondary prevention of Alpers disease.


==Notes==
==Notes==

Revision as of 17:12, 27 August 2020

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [2]; Associate Editor(s)-in-Chief: Zehra Malik, M.B.B.S[3]

Synonyms and keywords: Alpers-Huttenlocher Syndrome, Progressive Infantile Poliodystrophy, Mitochondrial Deoxyribonucleic acid (DNA) depletion syndrome-4A

Overview

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.

Classification

  • There is no established system for the classification of Alpers disease.

Pathophysiology

Causes

Differentiating Alpers disease from other Diseases

Epidemiology and Demographics

  • The prevalence of Alpers disease is approximately 1 per 100,000 individuals worldwide.
  • Alpers disease affects men and women equally.
  • Higher carrier frequency is seen in the Northern European population.[3]

Risk Factors

  • There are no established risk factors for Alpers disease.

Screening

  • There is insufficient evidence to recommend routine screening for Alpers disease.

Natural History, Complications, and Prognosis

  • Prognosis is generally poor,

Treatment

Medical Therapy

  • There is no treatment for Alpers disease; the mainstay of therapy is supportive care.

Surgery

  • Surgical intervention is not recommended for the management of Alpers disease.

Primary Prevention

  • There are no established measures for the primary prevention of Alpers disease.

Secondary Prevention

  • There are no established measures for the secondary prevention of Alpers disease.

Notes

  1. 1.0 1.1 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.
  2. Copeland WC (2012). "Defects in mitochondrial DNA replication and human disease". Crit Rev Biochem Mol Biol. 47 (1): 64–74. doi:10.3109/10409238.2011.632763. PMC 3244805. PMID 22176657.
  3. 3.0 3.1 Saneto RP, Cohen BH, Copeland WC, Naviaux RK (2013). "Alpers-Huttenlocher syndrome". Pediatr Neurol. 48 (3): 167–78. doi:10.1016/j.pediatrneurol.2012.09.014. PMC 3578656. PMID [1] 23419467]] Check |pmid= value (help).
  4. Qian Y, Ziehr JL, Johnson KA (2015). "Alpers disease mutations in human DNA polymerase gamma cause catalytic defects in mitochondrial DNA replication by distinct mechanisms". Front Genet. 6: 135. doi:10.3389/fgene.2015.00135. PMC 4391263. PMID 25914719.
  5. Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K; et al. (1993). "GeneReviews®". PMID 20301791.
  6. Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C; et al. (2008). "Molecular and clinical genetics of mitochondrial diseases due to POLG mutations". Hum Mutat. 29 (9): E150–72. doi:10.1002/humu.20824. PMC 2891192. PMID 18546365.

References

"Alpers' Disease Information Page". (Website). National Institute of Neurological Disorders and Stroke, U.S. National Institutes of Health.

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