Rare yet severe genetic disorder Alpers disease can cause liver failure, convulsions, and mental impairment. Alpers disease patients rarely survive until adulthood.
Alpers syndrome or Alpers-Huttenlocher syndrome are other names for Alpers disease. It is identified by the disappearance of a vital enzyme that your mitochondria's DNA needs. The majority of the energy your cells need to survive is produced by your mitochondria.
Because your child's brain and liver demand a lot of energy, these organs are the main targets of Alpers disease. Typical symptoms consist of:
- seizures
- liver failure
- loss of cognitive ability
Learn more about Alpers disease by reading on for information on its causes, symptoms, and treatment options.
What is Alpers disease?
A mutation in the POLG1 gene is typically the cause of Alpers disease, a hereditary condition that progresses over time. About one child out of every 100,000 is impacted. Almost equal effects are experienced by men and women.
Your POLG1 gene mutation may cause polymerase gamma to work less well. Your mitochondria need this enzyme to copy and fix their DNA. Your child's cells and mitochondria will perish without it.
Since the brain and liver of a child require the most energy in their body, these two organs are the main targets of Alpers illness. About 20% of the total energy your body uses at rest is used by your liver and brain.
When do you develop Alpers disease?
The typical onset age of Alpers disease in children is between two and four years old. Most kids die four years after they first exhibit symptoms. Liver failure or status epilepticus are typically the causes of death. A protracted seizure lasting more than five minutes, or a sequence of seizures lasting more than five minutes, is known as status epilepticus.
Before the age of two, 80% of children experience the symptoms of Alpers illness. The remaining individuals experience symptoms between the ages of 2 and 25. The majority of people who don't experience symptoms as babies do so in their teens.
What are the symptoms of Alpers disease?
When a child who is otherwise healthy and developing normally suddenly develops seizures that are unresponsive to medicine, it is frequently the first indication of Alpers disease.
Myoclonus, or focal motor seizures, is a common precursor to seizures. Myoclonus is an abrupt, fleeting, uncontrollable spasm of the muscles. One side of the body jerks during focal motor seizures.
Other signs and symptoms that could appear are:
- loss of vision
- headaches
- vomiting
- language delays
- loss of speech
- Dementia is the loss of cognitive ability.
- unusual rigidity or tone of the muscles
- infection-related encephalopathy, which results in changes to brain activity
Six of the twenty-two children with Alpers illness exhibited developmental delays before the beginning of seizures, according to a 2021 review conducted by Chinese experts. One individual had a significant intellectual handicap.
Seizures were experienced by all 22 individuals. Medication did not affect the seizures in all but one of these kids.
Causes
More than 90% of cases of Alpers disease are believed to be brought on by a recessive mutation of the POLG1 gene. To have Alpers disease, you must inherit this mutation from both parents.
An aberrant POLG1 gene causes mitochondria to gradually die off, which ultimately results in the death of your child's cells—particularly their brain and liver cells.
Other abnormalities of the mitochondria-associated with mutations in this gene include:
- progressive loss of vision outside the eye
- Parkinson's disease
- epilepsy with myoclonic seizures sensory ataxia in myopathy
- the spectrum of childhood myocerebrohepatopathy
- spectrum of ataxia neuropathy
Less frequently, mutations in the following genes may also be connected to Alpers disease:
- PARS2
- NARS2
- GABRB2
- FARS2
Alpers disease vs amyotrophic lateral sclerosis
Another progressive neurological condition is called Lou Gehrig's disease, or amyotrophic lateral sclerosis (ALS). The progressive loss of cells responsible for breathing and voluntary muscular activity is its hallmark.In contrast to Alpers disease, ALS often manifests between the ages of 55 and 75. In roughly 1.5–3 persons out of 100,000, it happens.
How is it diagnosed?
To identify Alpers disease in infants, medical professionals typically search for certain signs and symptoms as well as do a blood test to check for gene abnormalities linked to the condition. One way to confirm a diagnosis is with:
- a genetic test
- an autopsy
- a liver biopsy
An electroencephalography (EEG) test can be used to gauge how active your child's brain is. One pattern that is indicative of Alpers illness is rhythmic high-amplitude delta with superposed polyspikes.
The diagnosis may be supported by magnetic resonance imaging (MRI), which can reveal alterations to your child's grey matter in:
- posterior cortical structures
- thalamus
- The area of the brain that interprets visual information and uses the most energy is the occipital cortex.
How do you treat Alpers disease?
Alpers disease cannot be slowed down or treated at this time. The goal of treatment is to lessen your child's symptoms, which could involve:
- medication to prevent seizures
- Occupational therapy or physical therapy to treat issues related to the muscles
- a feeding tube is placed in the stomach to assist with nutrition
- consuming more frequent, smaller meals to improve nutrition
- long-term mechanical ventilation lung support
- when necessary, painkillers and muscle relaxants
Support resources
It can be very upsetting to learn that your child has Alpers disease because it means they probably won't live to adulthood.
By enrolling your loved one in a clinical trial, you may advance research into Alpers disease and increase the likelihood that a cure will be found. The National Library of Medicine database has a list of ongoing clinical studies.
If you have any issues concerning Alpers disease, you can reach them by calling the United Mitochondrial Disease Foundation's helpline. Additionally, they promote joining their mitoSHARE registry to further scientific investigation.
Takeaway
Your child may have Alpers disease, a rare genetic illness that results in mitochondrial malfunction. It mostly manifests as symptoms that impact your child's brain and liver. Most die within four years from persistent seizures or liver failure.
The focus of treatment for Alpers disease is on symptom management for your kid, as there is no known cure. A physician can assist you in determining how to improve your child's comfort.
FAQs
How do you diagnose Alpers disease?
The primary symptoms of dementia, liver disease, and seizures are typically used by medical professionals to identify Alpers disease. They might also run the following tests to confirm the diagnosis: Cerebrospinal fluid analysis: Your doctor uses a spinal tap to remove fluid from your lower back.
Do syndromes have symptoms?
A syndrome is a distinguishable combination of physical characteristics and symptoms that point to a particular ailment for which a clear cause is not always known.
What does Alpers disease look like?
Increased muscle tone with exaggerated reflexes (spasticity), seizures, and loss of cognitive ability (dementia).
Is Alpers syndrome genetic?
Caused by mutations in the POLG gene.
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