Alpers Disease: Symptoms, Treatment, Prognosis
Synopsis: Information regarding Alpers disease, a rare, autosomal recessive disorder seen in infants and young children. Alpers' disease, also called Alpers' syndrome, progressive sclerosing poliodystrophy, and progressive infantile poliodystrophy is a progressive degenerative disease of the central nervous system that occurs mainly 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 specific genetic mutations in the POLG gene.
Alpers disease is also known as progressive neuronal degeneration of childhood with liver disease (PNDC) or 'Alpers-Huttenlocher syndrome.' It is a rare, autosomal recessive disorder in infants and young children. The disease is classified as a prion disease and a 'mitochondrial encephalomyopathy' and is associated with the mitochondrial genome.
The U.S. Social Security Administration (SSA) has included Alpers Disease as a Compassionate Allowance to expedite a disability claim.
The symptoms of Alpers disease include:
- Liver disease
- Exaggerated reflexes
- Increased muscle tone
- Loss of cognitive ability
Alpers disease is an autosomal recessive disorder. What this means is that both parents are carriers of the disease. The disease is due to more than one cause. Some instances are inherited as autosomal recessive traits with both parents appearing average yet carrying one Alpers gene and each of their children experiencing a 1 in 4 risks of receiving both of the parent's Alpers genes and experiencing the symptoms of the disease.
Other Alpers disease instances are oxidative phosphorylation disorders, including mitochondrial DNA depletion syndromes. Phosphorylation is the addition of phosphate to an organic compound, such as the addition of phosphate to adenosine diphosphate (ADP) to form adenosine triphosphate (ATP) or the addition of phosphate to glucose to produce glucose monophosphate, through the action of enzymes known as, 'phosphotransferases,' or, 'kinases.'
Human beings have approximately 30 to 40,000 different genes, each of which functions in making a person. The genes are arranged in pairs, one pair from each parent, on 23 chromosomes. Some of these genes are faulty - an average gene may overcome a faulty one. Yet if both genes in the pair are faulty, the genetic instructions cannot work.
Most people carry different faulty genes, yet in Alpers disease and other recessive conditions, parents - while healthy themselves, carry the same faulty genes and risk passing them on to their children. Each pregnancy carries a 25% chance of the child being affected. A child may or may not have shown some developmental delay before the onset of the main disease symptoms, commonly occurring within the first few years of life. This may involve a loss of previously learned skills and a sudden onset of seizures, which are usually very hard to control.
The combination of severe epilepsy and the persistent brain disease causing the seizures leads to an increasing loss of awareness and skills. An affected infant often develops some physical stiffness and subtle involuntary movements, particularly of their feet, hands, face, and head. The condition is not painful, and the child will be unaware of what is happening.
The course of the disease is often rapid, and eventually, the combination of the disease affecting the child's brain and increasing physical weakness becomes too great to sustain life. Death usually happens within a year. Parents and caregivers will be aware of the child's increasing fragility, and death is often fairly peaceful and expected when the time comes. Rarely, older children and teenagers might develop a seemingly similar condition called 'Juvenile Alpers Disease,' whose course may be more extended, possibly over several years. Other names for Alpers disease include the following:
- Poliodystrophia Cerebri Progressiva
- Progressive Cerebral Poliodystrophy
- Diffuse Cerebral Degeneration in Infancy
- Alpers Progressive Infantile Poliodystrophy
- Alpers Diffuse Degeneration of Cerebral Gray Matter with Hepatic Cirrhosis
Treating Alpers Disease
While no treatment is available at this time that can stop the disease, every effort is made to treat the symptoms the child is experiencing. Medications are administered in an attempt to:
- Relieve pain
- Treat infections
- Relieve any muscle spasms
- Reduce some of the seizures
Sedative medications may be administered if needed. Feeding may be assisted. Physiotherapists and others can advise parents on seating, positioning, and exercising the limbs of the affected child to maintain their comfort. While not scientifically proven, several children gain symptomatic relief from some therapies, such as massage and cranial osteopathy.
At this time, there is no cure for Alpers disease and no way to slow the progression of the disease. Treatment is symptomatic and supportive. Anticonvulsants might be administered to treat seizures, but at times the seizures fail to respond well to therapy - even at high dosages. Due to this, the benefit of seizure control should be weighed against what might be excessive sedation from the anticonvulsant. Valproate should not be administered because it may increase the risk of liver failure. Physical therapy might help relieve spasticity and increase or maintain muscle tone.
Alpers Disease Prognosis
The prognosis for people with Alpers disease is poor. People with the disease usually die within their first decade of life. Continuous and unrelenting seizures often lead to the person's death. Cardio-respiratory failure may also happen due to spinal cord, brain, and nerve involvement.
Research on gene-linked neurodegenerative disorders like Alpers disease is being pursued. The goals of the research are to increase scientific understanding of the disorders and to find ways to treat, prevent and cure them.
Thomas C. Weiss is a researcher and editor for Disabled World. Thomas attended college and university courses earning a Masters, Bachelors and two Associate degrees, as well as pursing Disability Studies. As a Nursing Assistant Thomas has assisted people from a variety of racial, religious, gender, class, and age groups by providing care for people with all forms of disabilities from Multiple Sclerosis to Parkinson's; para and quadriplegia to Spina Bifida.
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Cite This Page (APA): Thomas C. Weiss. (2015, July 16). Alpers Disease: Symptoms, Treatment, Prognosis. Disabled World. Retrieved September 27, 2023 from www.disabled-world.com/health/neurology/alpers.php