Dysmyelogenic leukodystrophy-megalobare or Alexander disease is an extremely rare, usually progressive and fatal, neurological disorder. Initially, it was detected most often during infancy or early childhood. Alexander disease has historically been included among the leukodystrophies–diseases of the white matter of the brain. These diseases affect the fatty material (myelin) that forms an insulating sheath around  Read More

Infantile spinal muscular atrophy type I (SMA) is a genetic disorder that results in progressive muscle weakness in infants and children, typically before the age of 2. This disease is caused by a mutation in the SMN1 gene, which produces a protein called survival motor neuron. This protein is essential for normal nerve cell function. 1. The first signs of SMA typically begin between 6 and 18 months of age and inc  Read More