YOU NEVER HEARD OF PEOPLE ACHONDROPLASIA? The word achondroplasia is derived from the combination of three words of Greek origin (
to = no,
condros = cartilage,
Palais = training) and indicates a lack of harmonic development of the growth plate of long bones of the limbs, ie that part of the bone in children is not yet sealed, and allows, through the growth and multiplication of cells located at its Internally, the gradual lengthening of bone.
Achondroplasia affects about 27,000 births and 90% of sporadic cases occurs as a result of a mutation in the sperm or ovum of unaffected parents: the subject achondroplasia arises in this case by a couple healthy unprecedented in families of origin and the possibility of a second affected child is trascurabile.Nel remaining 10% of cases the disease is inherited with an autosomal dominant mechanism, ie one parent affected with achondroplasia transmits the gene responsible for the disease to their children with a probability of 50% for each pregnancy. In that case, then both parents are affected by this disease, there is a 50% chance that the child inherits from one parent and then the gene is affected (heterozygous form
), who inherits 25% from both parents and is therefore affected by a more complex form (
homozygous), 25% who did not inherit the gene from both parents and sano.Riassumendo, if both parents are affected, the chances of having a sick child are 75%.
The altered gene in patients with achondroplasia was identified recently and is located on the short arm of chromosome 4. More specifically it is a "point mutation, an abnormality in the DNA that causes the substitution of an amino acid with another in the protein receptor.
This discovery allows for early prenatal diagnosis for couples at risk (those with at least one partner affection), through DNA analysis, as well as the first step toward understanding the precise function gene and thus for the development of a specific therapy (do not assume, however, soon).
In general terms, then, can we speak of a condition of short stature type of disharmony, with a ratio of truncated limbs altered proportions (trunk and limbs of normal length shorts, with a shortening of the latter that affects parts close to the trunk).
At birth the child with achondroplasia has more or less regular height and weight similar to that of a normal child. The stature and continues to remain similar to that of other children, until the first year of life, and then begins to be visible growth retardation.
The average height you can reach is about 130 cm. The head circumference, higher than normal at birth, grew faster during the first year of life and then stabilized.
With regard to complications - mostly be faced with preventive treatments to prevent the onset or reduce the effect - the most common orthopedic, such as kyphosis, lumbar lordosis and a curvature of the lower limbs. It is rare neurological problems such as hydrocephalus and spinal cord compression in the cervical and lumbar. Finally, it must be said that the achondroplasia not lead to mental retardation.
Currently, the only real option for improving the quality of life for patients is to increase its stature by limb lengthening surgery, surgery that tends to start between 12 and 16 years. The operation involves both the tibias and femurs that the average stress for bone segment is about 10 cm, which may make it possible to reach a height of 150 cm and also to carry out activities before individually precluded, how to use a lift , take public transport and so on.
All the techniques used, however, share the need for long periods of relative immobility, a major physical and mental load for the patient and a major commitment for the whole family.
are normal people, both physically and mentally very sound but with only the misfortune to be small and this makes them uncomfortable in the small tasks that seem mundane to us while they are mountains to climb!
For example, open doors, open a tap, playing the phones, use the kitchen, find the clothes that suit them, get on public transport, drive or even find a job.
But despite all this are very normal people!
What is your reaction if you happen to see one?
