Alpers disease
Alpers disease Definition
Named after Bernard Jacob Alpers, Alper's disease is a progressive degenerative disease that affects the central nervous system. Also called progressive sclerosing polidystrophy, progressive infantile poliodystrophy, progressive neuronal degeneration of childhood and Alpers' syndrome, this autosomal recessive disorder only occurs in infants and children, sometimes in siblings.
Alpers disease Symptoms and Signs
The first symptoms of Alpers' disease include seizures and failure to meet proper development. These symptoms usually occur during the first year of an infant's life, but can also appear in children aged 5 years old. Primary symptoms of Alpers' disease include progressive mental retardation, developmental delay, low muscle tone, progressive dementia and limb stiffness that may lead to quadriplegia. When seizures occur, the child may experience epilepsia partialis continua, a seizure consisting of repeated muscle jerks. A few cases of optic atrophy may occur, some even lead to blindness. Others experience deafness. Many patients of Alpers' disease suffer from liver impairment that leads to liver failure. Unfortunately, physical signs of liver problems may not be present.
Alpers disease Treatment
Currently, there is no available cure for Alpers' disease and no treatments to slow down its progression. Anticonvulsants are used for seizures. Physical therapy can be implemented to maintain muscle tone and relieve limb stiffness. Unfortunately, diagnosis for patients with Alpers' disease is poor. Majority of the patients die within the first 10 years of their lives. The most common cause of death is liver failure, next is cardiorespiratory failure.