Basal ganglia calcification idiopathic childhood-onset
Type of disease: Rare conditions
Basal Ganglia Calcification Idiopathic Childhood-Onset is a condition characterized by calcium deposits in the basal ganglia portion of the brain. The basal ganglia is associated with voluntary movements, learning, cognition, and emotion. Child onset is rare, as symptoms for basal ganglia calcification more commonly begin between 20-40 years old. Child onset symptoms include mental impairment, psychiatric disorders, movement abnormalities, small head size, increased muscle tone, continuous and repetitive involuntary movements, spastic paralysis, eye disease, and limb shortening. CT scans can detect the calcium build up in the brain, but it might also be visible on regular x-rays of the head.
Unfortunately, there is no cure for this disease and treatment options focus on reducing symptoms and include various medications. Basal ganglia calcification can run in families. When this condition is inherited it is passed through families in an autosomal dominant manner. We inherit our genes in pairs, one from each parent typically. Our genes are what control the growth, development and function of our bodies. If a mistake or error occurs in a gene, it can cause problems. Autosomal dominant means that if one parent has the condition (therefore the mutation) there is a 50% chance that they will pass it on to each of their children. However sometimes the mutation or change is sporadic or new (de novo), meaning it occurred when the egg or sperm was being made in one parent. Neither parent therefore would have the condition, but the individual affected with the condition would then have a 50% chance of passing it to each of their children. The exact gene causing this rare condition is not known yet but research is still continuing to better understand this rare condition. If your child has been diagnosed with basal ganglia calcification, talk with your pediatrician and specialists about the most current treatment options.