What is Alper’s syndrome?
Alper's syndrome, also referred to as progressive sclerosing poliodystrophy, is a genetic condition which is generally transmitted through the recessive pattern of inheritance, where both parents possess the genes and pass it on to their child or children. It often affects infants and children.
The disease results in the progressive deterioration of the grey matter of the brain, which is primarily involved in the body’s muscle control, sensory perception, speech, memory, and emotions. Symptoms in children usually occur during the first year of life, some as early as three months old. The essential indicators of Alper’s syndrome are discovered further on as the child exhibits developmental delays, low muscle tone, stiffness of limbs, advancing mental retardation and even dementia. The child may also suffer from loss of sight, deafness, and chronic liver impairments. Unfortunately, there is no known cure for the disease, and patients are mostly managed by medications to alleviate the symptoms.
Many scientist believed that Alper's syndrome can be associated with some underlying metabolic conditions. Mutations in mitochondrial DNA may also play a role in its development. One distinct similarity among all cases of Alper’s disease is the spongiform appearance of the brain’s grey matter upon biopsy very much similar to what is seen in post mortem examination of patients with Prion disease.