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    Alpers' Disease

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    DANY PAUL BABY
    Alpers' disease is a rare, genetic, and fatal neurological disorder that affects the brain and liver in children. It causes progressive deterioration in brain function, loss of motor skills, seizures, and eventually death. The disease is caused by mutations in mitochondrial DNA and results in degeneration of gray matter in the brain and liver failure. There is no treatment or cure for Alpers' disease, and care is focused on managing symptoms.

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    Alpers' Disease

    Uploaded by

    DANY PAUL BABY
    121 views5 pages
    Alpers' disease is a rare, genetic, and fatal neurological disorder that affects the brain and liver in children. It causes progressive deterioration in brain function, loss of motor skills, seizures, and eventually death. The disease is caused by mutations in mitochondrial DNA and results in degeneration of gray matter in the brain and liver failure. There is no treatment or cure for Alpers' disease, and care is focused on managing symptoms.

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    Alpers Syndrome

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    Alpers

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    Alpers' disease is a rare, genetic, and fatal neurological disorder that affects the brain and liver in children. It causes progressive deterioration in brain function, loss of motor skills, seizures, and eventually death. The disease is caused by mutations in mitochondrial DNA and results in degeneration of gray matter in the brain and liver failure. There is no treatment or cure for Alpers' disease, and care is focused on managing symptoms.

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    © All Rights Reserved
    Download as DOCX, PDF, TXT or read online from Scribd
    Download as docx, pdf, or txt
    121 views5 pages

    Alpers' Disease

    Uploaded by

    DANY PAUL BABY
    Alpers' disease is a rare, genetic, and fatal neurological disorder that affects the brain and liver in children. It causes progressive deterioration in brain function, loss of motor skills, seizures, and eventually death. The disease is caused by mutations in mitochondrial DNA and results in degeneration of gray matter in the brain and liver failure. There is no treatment or cure for Alpers' disease, and care is focused on managing symptoms.

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    © All Rights Reserved
    Download as DOCX, PDF, TXT or read online from Scribd
    Download as docx, pdf, or txt
    of 5

    Alpers' disease

    Definition
    Alpers' Syndrome or Alper’s Disease is an early-onset, progressive
    medical specialty predicament that severely affects the brain and liver.
    Within the familial (inherited) variety of the disorder, it's transmitted as a
    recessive condition, which implies that the progenies can be the carrier of
    the. Carrier Parents have 25% risk of getting their biological child affected
    with Alpers diseases

    Description
    Alpers' disease was initial described by Dr Alfons Maria Jakob (1884–
    1931). The disease was characterized and revealed by physiologist Jacob
    Alpers, Erna Christensen, and Knud Haraldsen Krabbe; so, Alpers' disease
    is additionally referred to as Christensen's sickness or Christensen-Krabbe
    sickness. Alpers disease is thought as progressive sclerosing poliodystrophy.
    Alpers' disease afflicts Children and is eventually fatal. Degeneration in
    cognitive processes (reasoning ability) and muscular involvement caused by
    the disease is unrelenting and relatively rapid. Physically, children with
    Alpers' disease lose management of their muscle movements. The
    ramifications of this disorder will considerably have an effect on the emotion
    of the person with Alpers' diseases, alongside members of the family caring
    for them.

    Demographics
    Alpers' disease is a rare disorder. Due to complications related to the
    diagnosis of Alpers' disease, it is difficult to estimate how often it occurs in
    the population. Both genders are affected with equal frequency.
    Causes and symptoms
    Children with Alpers' disease typically develop symptoms between the
    ages of 3 months and 5 years. Initially, the primary symptom early in life is
    seizures (convulsions). These kids tend to be hypotonic (unable to realize
    traditional muscle tone) and their limbs appear to be rigid. This can be
    typically followed by the failure to succeed in psychological feature and
    organic process milestones. Intellectual disability progressive in these kids as
    the age.
    Among the foremost devastating options of this disorder is that the
    progressive dementia. In kids with Alpers' diseases, mental deterioration will
    occur rapidly. The pathological nature of the defect involves a distinct
    section of the brain known as the neural structure or Cerebrum during
    which a particular part (the grey matter) is affected. Spastic paralysis (inability
    to use and management movements of the arms and legs) will develop
    within the later stages of the disorder. Sightlessness is additionally
    discovered, and this is often typically thanks to a condition known as optic
    atrophy. In optic atrophy, the optic tract degenerates, leading to the
    shortcoming to method visual data from the attention to the brain.

    The liver is additionally affected. Liver conditions that these patients


    expertise square measure jaundice or complete liver failure in additional
    severe cases. Researchers at the National Institute of Health take into
    account that patients with Alpers' sickness square measure usually
    misdiagnosed as having childhood jaundice or liver failure. This is often
    thanks to the issues related to creating a designation in living patients.

    Currently, the precise mechanism, whether or not genetic, environmental, or


    both, that causes this sickness is unknown. Scientists assume that
    Alpers'disease is caused by Associate in nursing underlying metabolic defect.
    Mutations within the deoxyribonucleic acid of the mitochondria (DNA that's
    a separate ordering from the nucleus) are related to this disorder. The
    mitochondria functions to supply energy to tissues and is especially vital for
    tissues like the brain

    Diagnosis
    Currently, Arriving into a definitive diagnosing is by autopsy following
    the death of the patient. A detailed examination of the brain and liver is
    needed.

    Treatment
    Because patients affected with Alpers' diseases sometimes develop
    convulsions, they're 1st directed to a medical specialist. Associate intimate
    with medical specialist is often necessary so as to urge the suitable palliative
    (supportive) care and treatment for these seizures. Because the diseases
    progresses, activity therapists will give aids for positioning and luxury.
    Thanks to the speedy nature of the disorder and also the inaccessibility of
    treatment to slow the progression, patients with Alpers' diseases are
    sometimes unable to attend college. There are, however, support specialists
    and organizations that have expertise with severe medicine disorders. The
    National Organization for Rare Disorder will facilitate affected families
    notice native support organizations. There also are organizations like the
    Genetic Alliance that facilitate establish support teams to permit families
    suffering from genetic diseases to search out alternative families with
    identical or connected disorders. These organizations will be an incredible
    facilitate in assuaging the numerous emotional and situational burdens that
    arise by permitting relations to speak to alternative families that have
    expertise with unwellnesss like Alpers' disease.
    Legal disclaimer:
    Author: Dr. Dany Paul Baby MD

    The below article cannot be altered or mass printed or used for publication without the permission of author. All rights reserved to the author.

    Those who fail to comply will face legal issues.

    The author does not hold responsibility if there are scientific mistakes or wrong data provided in the article. Kindly refrain from using this article for

    medical diagnosing or treatment.

    Resources

     Alpers, B. B. "Diffuse Progressive Degeneration of the Gre Matter of


    the Cerebrum." Archives of Neurology and Psychiatry (1931) 25: 469–
    505.
     Blackwood, W., P. H. Buxton, J. N. Cumings, D. J. Robertson, and S.
    M. Tucker. "Diffuse Cerebral Degeneration in Infancy (Alpers'
    Disease)." Archives of Disease in Childhood 38, (1963): 193–204.

     Boyd, S. G., A. Harden, J. Egger, and G. Pampiglione. "Progressive


    Neuronal Degeneration of Childhood with Liver Disease ('Alpers'
    Disease'): Characteristic Neurophysiological
    Features." Neuropediatrics 17, no. 2 (1986 May): 75–80.

     Christensen, E., and K. H. Krabbe. "Poliodystrophia Cerebri


    Progressiva (Infantilis): Report of a Case." Archives of Neurology 61
    (1949): 28–43.
     Fitzgerald, J. F., R. Troncone, and M. A. Del Rosario. "Clinical Quiz.
    Alpers' Disease." J Pediatr Gastroenterol Nutr. 28, no.5 (May 1999):
    501, 509.

     Narkewicz, M. R., R. J. Sokol, B. Beckwith, J. Sondheimer, and A.


    Silverman. "Liver Involvement in Alpers' Disease." J Pediatr. 119,
    no.2, (Aug 1991): 260–7.

     National Organization for Rare Disorders (NORD). P.O. Box 1968,


    55 Kenosia Avenue, Danbury, CT 06813-1968. (203) 744-0100 or
    (800) 999-NORD; Fax: (203) 798-
    2291. [email protected].<http://www.rarediseases.org>.

     March of Dimes Birth Defects Foundation. 1275 Mamaroneck


    Avenue, White Plains, NY 10605. (914) 428-7100 or (888)
    MODIMES; Fax: (914) 428-
    8203. [email protected].<http://www.marchofdimes.com>.

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