Alpers disease refers to mitochondrial diseases that affect the area of your brain, muscles, and liver. It is a rare disease that causes seizures, dementia, and liver failure. Anyone can have the symptoms of this disease between the age of one month to thirty-six years.
Usually, the onset of symptoms occurs at the age of early childhood commonly between the ages of two to four years. Others may get the symptoms of disease later between the ages of 17 to 24 years. Mostly, this condition proves dangerous.
Problems in the gene lead to Alpers disease. It is categorized as a disorder that is inherited. It runs in families. An individual may have the signs of Alpers disease from the time of birth. However, it remains unnoticeable for weeks and even years. Following are some other names of Alpers disease.
- Alpers syndrome
- Progressive infantile poliodystrophy
- Alpers-Huttenlocher syndrome
- Progressive cerebral poliodystrophy
- Cerebral degeneration at the age of infancy
Anyone who carries or inherits genes with mutations from their parents can have Alpers disease. This disease is rare. Only one person out of 100,000 can have Alpers disease. Individuals with ancestors from the area of Northern Europe are at greater risk of getting this disease.
Causes
A change or mutation in the POLG1 gene can lead to Alpers disease. Many children inherit mutations in this gene from both mother and father. Mutations in the POLG1 gene that is inherited from a child from both of the parents lead to the development of Alpers disease.
This disease is considered a mitochondrial disease. However, its reason is the defective genes that work to stop mitochondrial DNA to work properly.
Alpers disease work to affect the area of your muscles, liver, and brain because a greater amount of energy that is mitochondrial energy is needed for these organs to perform proper functions.
Some researchers consider that certain environmental factors may play a role like viruses can cause the development of the disease in people who inherit certain defective genes.
Symptoms
Refractory epilepsy or seizures are the core symptom of Alpers disease. Other symptoms are the disease of the liver and slowing down the process of thinking. You can also call it a mild level of cognitive impairment. The movements of individuals in this impairment become less.
Healthcare professionals termed these signs as psychomotor regression. Certain other symptoms include depression and anxiety, brain disease or encephalopathy, muscle stiffness or spasticity, problems of having less growth, and migraine headaches.
People with Alpers disease may get headaches related to migraine with the issues of hallucinations sometimes. They may also have muscle stiffness and twitching. Symptoms may differ with the progress of Alpers disease. These symptoms are given below.
- Heart muscle diseases or cardiomyopathy
- Liver failure or liver cirrhosis
- Optic atrophy that can cause blindness
- Dysphagia or problem in swallowing
- Dementia and ataxia that is a disease that affects your movements and coordination of muscles
- Gastrointestinal disease
- Having less control in the area of legs and arms
Diagnosis
Healthcare providers firstly investigate the core signs of dementia, seizures, and liver disease in order to make a diagnosis for Alpers disease. They can use the following test to verify the diagnosis.
- Cerebrospinal Fluid Diagnosis: Doctors use a spinal tap in order to collect fluid from the area of the lower back. They examine the fluid for a health problem called the deficiency of cerebral folate.
- Electroencephalography: A healthcare provider prefers to use EEG in order to measure the electrical signals from the area of your brain. They place electrodes (metal disks) on the area of your scalp in order to check the activity of your brain. An EEG can reflect the slowing of activities in the brain in case if you have the signs of Alpers disease.
- Genetic Testing: The doctor will take one sample of blood to test the gene’s building blocks. They do it to check the defects in genes.
- MRI: An MRI of the brain reflects enhanced grey matter’s mass in people who have Alpers disease.
Treatment
A healthcare provider can suggest different treatments in order to manage your symptoms. Treatments help you to enhance an individual’s quality of life and feeling of discomfort. People with Alpers disease can get the following treatments.
- Speech therapy
- Anticonvulsant medications that help to decrease seizures
- Massage in order to reduce stress
- Feeding tube to improve hydration and nutrition
- Small meals containing low proteins
- Occupational therapy in order to help an individual to perform routine tasks
- Muscle relaxants and pain reliervs
- Physical therapy in order to enhance muscle tone and treat spasticity
- Supportive ventilation like tracheostomy, CPAP, or BiPAP in order to improve the process of breathing
Your doctor will advise you to have tests for Alpers disease with the gap of one or two months. They monitor the condition of an individual’s health and alter treatment if needed. They may suggest you the following tests.
- Complete blood count
- Liver function test
- Test for elevated liver enzymes
- Electrolyte monitoring
