Alpers' disease: Difference between revisions
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*[[Seizure]] management should be achieved by with drugs with newer generation drugs(lamotrigine, primidone, topiramate, oxcarbazepine) with low hepatic impact. | *[[Seizure]] management should be achieved by with drugs with newer generation drugs(lamotrigine, primidone, topiramate, oxcarbazepine) with low hepatic impact. | ||
*[[Valproic acid]] should be avoided for [[seizure]] management as it can worsen liver disease. | *[[Valproic acid]] should be avoided for [[seizure]] management as it can worsen liver disease. | ||
* | *[[Physical therapy]] may help relieve [[spasticity]]. | ||
*Occupational/speech therapies may also help with neurological deficits. | |||
*[[Tracheostomy]], gastric feeding tube, and/or [[artificial ventilation]] may be helpful once the disease progresses. | |||
'''Surgery''' | '''Surgery''' | ||
*[[Surgical]] intervention is not recommended for the management of Alpers disease. | *[[Surgical]] intervention is not recommended for the management of Alpers disease. | ||
Revision as of 17:32, 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
- Alpers disease is inherited in an autosomal recessive pattern.
- Mutation in POLG1 gene reduces polymerase gamma functionality, resulting in defective mitochondrial DNA.[2]
- Brain, liver and skeletal muscles are most involved due to high number of mitochondria.[3]
Causes
- Alpers disease is a mitochondrial disorder caused by a mutation in the POLG1 gene.[4]
Differentiating Alpers disease from other Diseases
- Alpers disease must be differentiated from other mitochondrial diseases caused POLG gene mutation:
- Childhood Myocerbrohepatopathy Spectrum Disorder[5]
- Myoclonus epilepsy myopathy sensory ataxia (MEMSA)
- Progressive external ophthalmoplegia[6]
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 and no way to slow its progression; the mainstay of therapy is supportive and palliative care.
- Seizure management should be achieved by with drugs with newer generation drugs(lamotrigine, primidone, topiramate, oxcarbazepine) with low hepatic impact.
- Valproic acid should be avoided for seizure management as it can worsen liver disease.
- Physical therapy may help relieve spasticity.
- Occupational/speech therapies may also help with neurological deficits.
- Tracheostomy, gastric feeding tube, and/or artificial ventilation may be helpful once the disease progresses.
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
- ↑ 1.0 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.
- ↑ 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.
- ↑ 3.0 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). - ↑ 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.
- ↑ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K; et al. (1993). "GeneReviews®". PMID 20301791.
- ↑ 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.