[/caption]This article, written by Arthur Schoenstadt, talks about Achondroplastic dwarfism. Achondroplastic dwarfism is the most common type of dwarfism. The dwarfism is caused by a mutation in the protein which allows the cartilage to converge with a head of a bone. In medical terms the process of cartilage converging to bone is referred to as ossification. The FGFR3 gene carries the instructions to create the protein that allows for successful ossification. FGFR3 gene stands for fibroblast growth factor receptor 3. Although this form of dwarfism can also be inherited by an autosomal dominant mode, scientists still do not know what causes the mutation. If one parent has achondroplastic dwarfism their offspring will have 50 percent chance of inheriting the FGFR3 gene.
All people who inherit achondroplastic dwarfism are small in stature. The average for an adult male is 4 feet and 4 inches and 4 feet 1 inch for adult females. On average they have a proportional trunk with disproportinate arms and legs. Their head and forehead are disproportinately large. Adults who have achondroplastic dwarfism usually develop lordosis in their back and the legs tend to bow. There is no cure for dwarfism but it is not a very common inheritable trait and is very manageable.
There needs to be more research pertaining to the cause of the mutation. Most people with dwarfism live a very normal life and are able to modify things such as car pedals to perform everyday tasks. We need to be developing more ways to treat their symptoms and try and prevent any complications that can occur from dwarfism. Since we have isolated the gene there should be advancement in gene therapy to counteract the mutation.
More new developments should be on the horizion for achondroplastic dwarfism. By locating the mutation on the FGFR3 gene, researchers can move onto the next step and find what actually causes the mutation in this gene.This will take time, but I have high hopes that a new discovery will be found in achrondroplastic dwarfism.
ReplyDeleteNow that the FGFR3 gene has been identified as the gene in which the mutation occurs in individuals with achondroplastic dwarfism, I think there is much hope in identifying where exactly the mutation occur. These are great advancements and I believe with time a discovery will be made. Until then I agree that more treatment options need to be found as well as accommodations made for individuals with achondroplastic dwarfism.
ReplyDeleteWarwick Davis does not have Achondroplastic Dwarfism. One glance at the elongated shape of his face, his large hands, his comparatively thin limbs, his pigeon chest and scoliosis all inform you that he has a different type of dwarfism entirely: spondyloepiphyseal dysplasia congenita.
ReplyDeleteThe actor Peter Dinklage has Achondroplastic Dwarfism.