acondroplasia

The Association is a point of reference for people with achondroplasia and their families .

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Italy


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ACHONDROPLASIA


Achondroplasia (ACP), which affects approximately 1/25.000 live births, is a genetic disease characterized by a non-harmonic development of the cartilage growth plate of the long bones of the limbs.

The cartilage growth is that part of the bone that in children is not yet welded and that allows the elongation corresponding to the bone itself. The disease causes therefore severe disorders of growth and is one of the most common forms of dwarfism (dwarfism acondroplasico) .

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Situation genetics

The ACP is caused by alterations in a gene located in chromosome 4 and contains the information to manufacture a protein called "receptor for fibroblast growth factor type 3", or more briefly FGFR3. This receptor allows cells to receive a "signal molecule" that encourages them to multiply. The alteration of this gene, that makes it unable to receive the signal and transmit it inside the cell, primarily affects the cartilage cells of the growth, that need particularly of this signal to multiply. 99% of patients with achondroplasia have the same mutation, that is, the same "fault" in the gene FGFR3, consisting of a single base nucleotide altered. In about nine cases out of 10 patients suffering from ACP were born from the parents is absolutely normal, but with alterations that occur in the sperm and in the egg of the parents, or at the time of conception, without any difference of race, ethnicity, or gender.

Diagnosis and Therapy

In couples in which one of the parents is affected by the ACP, it is possible to carry out the examination of the fetal DNA to determine if the unborn child is healthy or is suffering. The clinical examination and, especially, the radiographic investigations are essential, and in case of doubt, it is possible to make DNA analysis to distinguish achondroplasia from other osteocondrodisplasie.

 

There is still no therapy that can heal from the ACP. Currently, one of the possibilities to improve the quality of life of patients, is orthopaedic surgery, to correct the curvature of the back and increase height.

You can increase your height by lengthening surgery of the lower limbs, that generally you can do already from 12 to 16 years. The surgical operation consists in lengthening the bones of the femur and of the tibia, "earning" about 20 inches in height. This operation, however, entails a long period of immobility, and a big load mentally and physically for the patient, therefore, must be evaluated the situation, along with the doctor in all its aspects.

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Sintomi

The average height of adults is about 130 cm in the males and 125 cm in females. Often the movements twist of the elbow are limited, but normally the ligaments of the joints are lassi, and it is for this reason that many children suffering from the ACP are able to make movements of "contortion", bending easily with the fingers, or twisting joints. In some cases, it may be affected the teeth, i.e. the teeth can grow in a disorderly way, and the arches of the upper and lower don't fit together well.

Sometimes children who are affected by ACP may have neurological problems or breathing due to the narrowing of the channel at the base of the skull. In these cases, the doctor may to intervene surgically. Over the years, the people affected can experience fatigue and pain on moving the limbs or back. It's more a case of simple muscle pain without the need of special severity. If the pains are strong, it is likely that there are neurological problems, caused by the narrowing of the spinal canal, and is useful for the intervention of the neurologist.

People with ACP have normal intelligence. Also the sexual development and life are in the norm. Despite their short stature, many people with lead a life full and satisfying. The period of childhood is critical. Children suffering from the ACP then they should be encouraged to behave normally..

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How it is transmitted

Achondroplasia is transmitted with an autosomal dominant pattern this means that two parents, one of which is only affected by ACP, have a 50% chance of having a child affected by ACP. There are no healthy carriers of the achondroplasia.

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