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achondroplasia

Achondroplasia: Symptoms and Treatment

  • June 30, 2022
  • 2 mins read

The word “Achondroplasia” itself means without cartilage formation, and this genetic disorder is a form of short-limbed dwarfism. Achondroplasia is inherited as an autosomal dominant trait affecting boys and girls equally. The parents of children with Achondroplasia are more often than not normal. Most cases of Achondroplasia are due to new mutations that appear for the first time in the affected children.

Cause of Achondroplasia
The cause of Achondroplasia is mutations in the FGFR3 gene. The FGFR3 gene provides instructions for making a protein involved in the development and maintenance of bone and brain tissue. Two specific mutations in the FGFR3 gene are responsible for almost all cases of Achondroplasia. Researchers believe these mutations cause the FGFR3 protein to be overly active, which interferes with skeletal development and leads to disturbances in bone growth seen with this disorder.

Symptoms of Achondroplasia
The characteristics of Achondroplasia include an average-size trunk, short arms and legs with particularly short upper arms and thighs, limited range of motion at the elbows, and an enlarged head (macrocephaly) with a prominent forehead. Fingers are typically short, and the ring finger and middle finger may diverge, giving a hand a three-pronged appearance.

Diagnosis of Achondroplasia
Achondroplasia can be diagnosed before birth by molecular means. The limited number of changes in the FGF3 gene responsible for Achondroplasia and the ease with which they can be detected provide the basis for a simple method for prenatal diagnosis.

Treatment of Achondroplasia

An FDA-approved medicine named Voxzogo is used for increasing linear growth in pediatric patients with Achondroplasia who are 5 years of age and older with open epiphyses. 

Voxzogo contains vosoritide, a human C-type natriuretic peptide (CNP) analog. Vosoritide is a 39 amino acid peptide. Its amino acid sequence includes the 37 C terminal amino acids of the human CNP53 sequence plus Pro Gly on the N terminus to convey resistance to neutral endopeptidase (NEP) degradation. Vosoritide is manufactured from Escherichia coli using recombinant DNA technology.  If you want to buy Voxzogo at the best price, contact us on toll-free no. 1800-889-1064.

How does Voxzogo work?
In patients with Achondroplasia, endochondral bone growth is negatively regulated due to a gain of function mutation in fibroblast growth factor receptor 3 (FGFR3). The binding of vosoritide to natriuretic peptide receptor-B (NPR-B) antagonizes FGFR3 downstream signaling by inhibiting the extracellular signal-regulated kinases 1 and 2 (ERK1/2) in the mitogen-activated protein kinase (MAPK) pathway at the level of rapidly accelerating fibrosarcoma serine/threonine-protein kinase (RAF-1). As a result, vosoritide, like CNP, acts as a positive regulator of endochondral bone growth as it promotes chondrocyte proliferation and differentiation.

How much does Vosortidie injection cost in India?
The Vosortidie injection cost is reasonable and expected to vary slightly depending on certain generic and brand-name medicines. Vosortidie is supplied under the brand name Voxzogo in 0.4 mg, 0.56 mg, and 1.2 mg dosage strength. To procure Voxzogo injection  price in India at the most promising price range, kindly contact us at TOLL-FREE Number: 1800-889-1064. We’re legitimately engaged and are certified by WHO-GDP & ISO to supply the best Quality Voxzogo injection in India.

Reference:

https://www.healthline.com/health/achondroplasia#symptoms