What is Achondroplasia condition? What are various Achondroplasia treatment available in market?

 

Achondroplasia or dwarfism is a well-known bone abnormality that causes abnormal growth of bone in the human body. People having achondroplasia tend to be short in height with a normal to slightly tall stature and short arms. It is the most prominent kind of dwarfism, which affects almost one out of every two men and one out of every twelve women. The disease generally occurs in about 1 out of every 25,000 births, as estimated by the Columbia University Medical Center.

Achondroplasia treatment is a complex bone disease caused by a mutation in the FGFR3 gene that impairs proper bone development in the legs. This disease is more common than most people think. A team of world-class neonatologists, pediatricians, cardiologists, orthopedists, neurological specialists, and other health care professionals can help to find the best Achondroplasia treatment. In recent years, researchers have found that there may be a connection between Achondroplasia and hydrocephalus. People suffering from Achondroplasia often have reduced cranial volume and increased muscle tone. The reduced cranial volume is due to the enlargement of the intravertebral cerebrospinal fluid, which provides nutrients and other substances to the neurons. Muscle tone is caused by the existence of fibroblast growth factor receptors on the ends of the spinal bones. In persons affected by Achondroplasia, the fibroblast growth factor receptor fails to respond to signals provided by these receptors, and the receptors eventually lose their ability to function properly, thus leading to atrophy of the spinal muscles.

Another link between Achondroplasia and hydrocephalus can be explained through the abnormal development of the intervertebral discs. The intervertebral discs are the cartilage between the vertebrae that help maintain the body's weight. Hydrocephalus usually develops when the number of open spaces within the disc decreases. In people with achondroplasia, the intervertebral discs become abnormal because they contain too much fluid, and this fluid may push up against the spinal bones.