Growth Hormone Therapy and Surgery Are Effective Options for Achondroplasia Treatment
Achondroplasia is a genetic disorder of bone
development that prevents bone changes in cartilage (especially in the long
bones of the hands and feet). It is characterized by the limited range of
motion at the elbows, dwarfism, small fingers, large head size, and normal
intelligence. Achondroplasia is caused by a change in the FGFR3 (fibroblast
growth factor receptor 3) gene and occurs as a result of a spontaneous genetic
mutation in around 80% of patients, with the remaining 20% inherited from
parents. Individuals with achondroplasia have short stature. The average height
in men is 4 feet 4 inches and in women is 4 feet 1 inch. Achondroplasia
treatment may include medications with growth hormone
and surgery to correct an abnormal curvature of the spine (or bone
problems), as to reduce the pressure inside the brain in cases of hydrocephaly.
Achondroplasia is known to affect 1 in 15,000 to
40,000 newborns. The average adult height of those affected ranges from 4 feet
to 4.4 feet. In the United States, around 10,000 individuals are
living with achondroplasia, of equal frequency in men and women and across all
racial and ethnic groups, making it the most common skeletal dysplasia. In Italy,
around 2,500 people are living with achondroplasia, while in the United
Kingdom, around one in 25,000 people are born with achondroplasia. Moreover,
an individual with achondroplasia has a 50% chance of
having an affected child.
Achondroplasia is the most common type
of dwarfism, and more than 300 different conditions can
cause dwarfism. Currently, there is no cure or specific achondroplasia treatment. Growth hormone therapy and surgery are used to alleviate the
conditions and help the patient clearly have normal growth and life. While,
other adjunctive treatments are used for the treatment or prevention of
complications such as spinal stenosis, middle ear infections, obstructive sleep
apnea, hydrocephalus, or obesity.
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