What is diastrophic dysplasia?

diastrophic dysplasia, also known as diastrophic dwarf, is a rare disorder including bones, cartilage and connective tissue of the body. In people with dysplasia, normal bone formation is impaired, resulting in a dwarf and also to joint damage. For people with this condition, there are some health risks that may be particularly dangerous in childhood. Diastrophic dysplasia is a recessive genetic disorder and someone has to inherit the gene from both parents to develop a dwarf. This means that children of a diastrophic dwarf do not develop a diastrophic dwarf if another parent carries a gene. Genetic testing and counseling can be useful for people with diastrophic dwarf and their parents, although it is definitely not necessary. The spine scoliosis is common and many patients develop arthritis and other joint problems due to cartilage damage in the joints. With age some people with diastrophic dysplasia experience mobility problems and need mobility to use for mobilityVat sticks, pedestrians, scooters or wheelchairs. People can also develop anomalies of the skull and ears of people who have a disorder, tend to deny and change shape over time.

One of the main problems for people who have a disorder is difficulty breathing caused by changes in spine. It is a particularly worrying infant with disorder. People of all age groups with diastrophic dysplasia may also be endangered during anesthesia. It is recommended that X -rays visualize the spine before surgical procedures so that the anesthesiologist can safely and properly complete the intubation. Signs of respiratory complications during surgery are also important.

This condition can be diagnosed shortly after birth and sometimes there is a prenatal diagnosis; Parents with one child who has diastrophic dysplasia may opt for prenatal testing with subsequent pregnancies to prepare foredem. The dwarf specialist can provide support and advice to help parents prepare and take care of children with diastrophic dwarf, and there are also many support groups that include people with diastrophic dysplasia and their families. Women with disorders can and have their own children, although pregnancy must be monitored with special care and delivery by caesarean section, it is usually recommended for the safety of the mother and the child.