Description, Causes and Risk Factors:
Autosomal recessively inherited progressive spastic paresis (partial or incomplete paralysis) of extremities with progressive mental deterioration, with development of seizures, blindness, and deafness, beginning during the first year of life, and with destruction and disorganization of nerve cells of the cerebral cortex.
Alpers disease is a progressive, neurodevelopmental, mitochondrial DNA depletion syndrome characterized by three co-occurring clinical symptoms: psychomotor regression (dementia); seizures; and liver disease. It is an autosomal recessive disease caused by mutation in the gene for the mitochondrial DNA polymerase POLG. The disease occurs in about one in 100,000 persons. Most individuals with Alpers disease do not show symptoms at birth and develop normally for weeks to years before the onset of symptoms.
It is believed to be caused by a biochemical fault that leads to damage and loss of cells in the grey matter of the brain. This damage causes difficulties in passing messages (nerve signals) within the brain and from the brain to other parts of the body. There is a very rare form of Alpers disease that occurs in older children and teenagers. The course of Juvenile Alpers Disease is extended over a longer period of time.
Alpers Disease is passed down by an autosomal recessive mode of inheritance. However, it is likely that in some cases different patterns of inheritance may occur. Many patients have an underlying mitochondrial disorder and recent evidence shows that a number of patients have defects in the POLG1 gene.
The prognosis for individuals with Alpers' disease is poor. Several clinics and associations are supporting research into neurodegenerative disorders to better understand the disorders which will lead to better cures and treatments.
Failure to thrive.
Myoclonus (involuntary jerking of a muscle or group of muscles).
Cortical blindness (loss of vision due to damage to the area of the cortex that controls vision, develops in about 25 percent of cases).
Gastrointestinal dysfunction and cardiomyopathy may occur.
Dementia is typically episodic and often associated with an infection that occurs while another disease is in process.
The first symptoms of the disorder are usually nonspecific and may include hypoglycemia secondary to underlying liver disease.
Diagnosis is established by testing for the POLG gene. Symptoms typically occur months before tissue samples show the mitochondrial DNA depletion, so that these depletion studies cannot be used for early diagnosis. About 80 percent of individuals with Alpers disease develop symptoms in the first two years of life, and 20 percent develop symptoms between ages 2 and 25. An increased protein level is seen in cerebrospinal fluid analysis.
There is no cure for Alpers disease and no way to slow its progression. Treatment is symptomatic and supportive. Anticonvulsants may be used to treat the seizures, but at times the seizures do not respond well to therapy, even at high doses. Therefore, the benefit of seizure control should be weights against what could be excessive sedation from the anticonvulsant. Valproate should not be used since it can increase the risk of liver failure. Physical therapy may help to relieve spasticity and maintain or increase muscle tone.
Seizures may be difficult to control and unrelenting seizures can cause developmental regression as well. "Alpers-like" disorders without liver disease are genetically different and have a different clinical course.
NOTE: The above information is for processing purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.
DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.
Recent research, performed by Sara Seidelman, a cardiologist and nutrition researcher from Brigham and Women’s Hospital in Boston, USA, finds that diets which ban entire food groups from the eating plan, for example, ketogenic diet, may actually harm your health. The...
According to a recent study, completed by the scientists from the Duke University Medical Center in Durham, USA, regular bedtime is important for heart health and metabolism. A team of scientists examined the sleeping patterns of approximately 2,000 adults aged...
It is very entertaining to be a sport fan. There is a big variety of sport games that are extremely interesting to follow. Moreover, it is always fun to anticipate the score and watch the enthusiasm live. One of the benefits of being sports fan is using different...read more
A new study of nearly 18,000 participants found that those with high fitness at middle age were significantly less likely to die from heart disease in later life, even if they were diagnosed with depression. Doctor's Tips: How to Stay Fit While Treating Depression Dr....read more
The warm ups are supposed to increase body temperature and blood flow so the muscles and surrounding joints become more responsive and prepared for physical activity. Although there’s a neurological element to warm-ups, most research focuses on the physiological...read more