Symptoms and Treatment of Achondroplasia

SYMPTOMS AND TREATMENT OF ACHONDROPLASIA 4

Symptomsand Treatment of Achondroplasia

Symptomsand Treatment of Achondroplasia

Achondroplasiais one of the popular forms of dwarfism. Statistics estimate therange of its prevalence at the range of between 1.3 in 100, 0000 livebirths and 1.5 in 100, 000 live births. Chromosome 4 is the locationof the disorder. Its transmission is through a single autosomaldominant gene. Newborns having the homozygous achondroplasia onlysurvive for a few days or months after birth. In most cases,achondroplasia is a condition inherited from the parents of anewborn. However, 80 percent of the reported cases of the disorderresult from rapid mutations. This mutation process takes place in thefibroblast growth factor receptor 3 and adversely affects the boneformation at the proliferative area of the physis. Usually, parentsof the affected individuals are of average size. In the same vein,statistical evidence suggests that the likelihood of gene mutation ishigher with increased paternal age of over 37 years(Iannotti &amp Parker, 2013).

Thesymptoms of achondroplasia are physically pronounced. Persons havingachondroplasia experience abnormalities in the growth of their bones.A short stature is the primary characteristic of individuals havingthe disorder. Besides, such persons have short arms, fingers, andlegs, which is disproportionate to their body size. The head is alsosignificantly big. Children having achondroplasia have bigger headswith a bigger circumference as compared to normal children of thesame age. According to Rosenberg(2013),the heavy head and short limbs delay the development of motor skillsand walking during infancy and early childhood. Noteworthy, personswith achondroplasia have normal intelligence levels and life span. Inthe same vein, the abnormality in bone growth creates complicationsin the spinal cord, which has severe respiratory problems.Respiratory failure is the primary cause of death among childrenhaving achondroplasia, and it is associated with cervicomedullarycompression(Nir, Liat, Yakov, Shlomi, &amp Jonathan, 2015).Cervicomedullary compression results from the narrowing of theforamen magnum.

Inthe treatment of achondroplasia, there are several recommendations toremedy the disorder. Majorly, treatment focuses on enhancing thegrowth of the stature of individuals having achondroplasia. Severalstudies suggest that recombinant human growth hormone has asignificant effect on the treatment of achondroplasia. These studiesentailed the administering of rhGH among children with the disorder.The administration dosage was weekly in a particular amount dependingon the age of the child in the sample. A five-year observation of thechildren under the study revealed that the children’s height hadsignificantly increased. As such, rcGH is a viable treatment ofachondroplasia(Mario, Silvano, &amp Francesco, 2016).

Similarly,another study applied the drug-repositioning model to determine adrug that subdues the abnormal growth of FGFR3. The findings of thestudy indicated that medozine, a commonly used drug in motionsickness serves to prevent the loss of extracellular matrix in RCSthat have received the treatment of FGF2. For this reason, the studyrecommended the use of medozine as therapeutic element in thetreatment of achondroplasia(Masaki, et al., 2013).

Inconclusion, achondroplasia is one of the most popular types ofdwarfism. The chromosome is located on chromosome 4 and transmittedthrough a single autosomal dominant gene. Achondroplasia is inheritedfrom parents although 80 percent of the disorder results from rapidmutations. Its symptoms include a short stature, shorter limbs andfingers, and a big head. Various studies recommend the use of rcGHand medozine as viable treatments for the disorder.

References

Iannotti,J. P., &amp Parker, R. (2013). TheNetter Collection of Medical Illustrations: Musculoskeletal System,Volume 6, Part III – Musculoskeletal Biology and SystematicMusculoskeletal Disease E-Book.Amsterdam: Elsevier Health Sciences.

Mario,M., Silvano, B., &amp Francesco, M. (2016). Height Outcome ofRecombinant Human Growth Hormone Treatment in AchondroplasiaChildren: A Meta-Analysis. HormoneResearch in Paediatrics, 86(1), 27-34.

Masaki,M., Hiroshi, K., Bisei, O., Kenichi, M., Hiroshi, K., Mikako, I., etal. (2013). Meclozine Facilitates Proliferation and Differentiationof Chondrocytes by Attenuating Abnormally Activated FGFR3 Signalingin Achondroplasia. PLoSONE, 8(12), 1-9.

Nir,S., Liat, B.-S., Yakov, S., Shlomi, C., &amp Jonathan, R. (2015).Surgical treatment for cervicomedullary compression among infantswith achondroplasia. Child`sNervous System, 31(5), 743-750.

Rosenberg,R. N. (2013). Atlasof Clinical Neurology.Berlin: Springer Science &amp Business Media.