Understand what Achondroplasia is

Achondroplasia is a type of dwarfism, which is caused by a genetic alteration and which causes the individual to have a lower stature than normal, accompanied by disproportionately sized limbs and torso, with arched legs. In addition, adults with this genetic disorder also have small, large hands with short fingers, an increase in the size of the head, very specific features of the face with a prominent forehead and a region between the flattened eyes and difficulty in reaching the arms well.

Achondroplasia is the result of insufficient growth of long bones and is the type of dwarfism that creates the smallest people in the world, and can lead adults to measure 60 centimeters in height.

Main changes associated with Achondroplasia

The main changes and problems that individuals with Achondroplasia face are:

  • Physical limitations associated with bone deformities and height, as public places are often not adapted and accessibility is restricted;
  • Respiratory problems such as sleep apnea and airway obstruction;
  • Hydrocephalus , as the skull is narrower which leads to abnormal fluid accumulation inside the skull, causing swelling and increased pressure;
  • Obesity which can lead to joint problems and increases the chances of having heart problems;
  • Teeth problem because the dental arch is smaller than normal, there is also a misalignment and overlap of the teeth;
  • Discontent and social problems can affect people who have this disease, as they may feel dissatisfied with their appearance, which leads to a false sense of inferiority and social problem.

Arched legs present in AchondroplasiaSmall, large hands with short fingers present in Achondroplasia

Despite causing several physical problems and limitations, Achondroplasia is a genetic alteration that does not affect intelligence.

Causes of Achondroplasia

Achondroplasia is caused by mutations in a gene related to bone growth, which leads to its abnormal development. This change can happen in isolation in the family, or it can be passed on from parents to children in the form of genetic inheritance. Therefore, a father or mother with achondroplasia has about a 50% chance of having a child with the same condition.

Diagnosis of Achondroplasia

Achondroplasia can be diagnosed when the woman is pregnant, as early as the 6th month of pregnancy, through prenatal ultrasound or ultrasound, as there is a reduction in the size and shortening of the bones. or through routine radiographs of the baby’s limbs.

However, there may be cases where the disease is only diagnosed later after the baby is born, through routine radiographs of the baby’s limbs, as this problem may go unnoticed by parents and pediatricians, since newborns normally have their limbs short in relation to the trunk.

In addition, when ultrasound or x-rays of the baby’s limbs are not sufficient to confirm the diagnosis of the disease, it is possible to perform a genetic test, which identifies whether or not there is any change in the gene that causes this type of dwarfism.

Achondroplasia Treatment

There is no treatment to cure achondroplasia, but some treatments such as physiotherapy to correct posture and strengthen muscles, regular physical activity and follow-up for social integration can be indicated by the orthopedist to improve the quality of life.

Babies with this genetic problem should be monitored from birth and follow-up should extend throughout their lives, so that their health status can be regularly assessed.

In addition, women with achondroplasia who intend to become pregnant may have a higher risk of complications during pregnancy, as there is less space in the belly for the baby, which increases the chances of the baby being born premature.

Physiotherapy for Achondroplasia

The function of physiotherapy in achondroplasia is not to cure the disease, but to improve the quality of life of the individual and this helps to treat hypotonia, stimulate psychomotor development, decrease the pain and discomfort caused by the characteristic deformities of the disease and help individual to do their daily activities correctly, without the need for help from others.

Physiotherapy sessions can be held daily or at least twice a week, for as long as necessary to improve quality of life and these can be performed individually or in groups.

In physiotherapy sessions, the physiotherapist must use means to decrease pain, facilitate movement, correct posture, strengthen muscles, stimulate the brain and create exercises that meet the individual’s needs.

Leave a Comment