Genetic diseases



achondroplasia photo Achondroplasia - a genetic disease with infringement in the growth of bone tissue.This pathology is evident from birth.Besides achondroplasia it refers to the ancient birth defects and is characterized by disproportionate body shape.

People with achondroplasia have a deformity of the spine, short limbs with almost normal trunk size and relative macrocephaly. This disease occurs in approximately 1: 25,000 and he is equally exposed to both male and female.

term "achondroplasia" means "without cartilage," but patients with this diagnosis have cartilage.Typically, during the prenatal period, and then in childhood, cartilage gradually becomes bone (except ears and nose).And people with this anomaly, this process is disrupted, affecting mostly the bones of the shoulder girdle and hips.Therefore, because of the slow cell division cartilage shortened tubular bones, and growth stops.

causes achondroplasia

basis of this disease is a gene which is localized in only one chromosome pa

ir, and the fourth is subject to anomalies.

Achondroplasia is inherited in some cases only one of the two parents, who have the disease.In this case, there is a 50% chance of a child inheriting achondroplasia during its existence of only one parent.If the mother and father of this pathology is present in the genes, while their future child can inherit achondroplasia with a probability of 25%, while the remaining 25%, the disease will be transmitted from one gene abnormality from both parents.Such a child is severe pathology observed in the skeleton, which lead to premature death.But a child who does not receive an inheritance of a gene able to completely get rid of achondroplasia and even have no chance of passing it on to future generations.

Unfortunately, pathological changes in 80% of cases are not hereditary abnormalities and appear with new mutations which are formed in the egg and sperm involved in the formation of embryos.Parents whose children are born with achondroplasia resulting from such mutations are usually normal growth, and have no other children with this disease.Therefore, the probability of the future of children with achondroplasia is minimized.Geneticists have shown that after 40 years, fathers are more likely to pass on to their children this pathology, as well as other diseases of autosomal dominant origin, which appear as a result of these mutations.

achondroplasia symptoms

Achondroplasia dwarfism and is characterized by impairments in proportion to the size of the body, which manifest imbalance between the size of limbs and torso, head.In this case, there are no other defects in body and intellect.

If patients with achondroplasia size of the head and body with respect to its normal size, the limb is significantly shortened.Index and middle fingers of the hands a little separated from each other, so the hands resemble a trident.In addition, different from the norm length of the fingers, hands gives a square appearance.The lower extremities have a certain curvature, and a foot wide and short enough.

Patients with achondroplasia much forward appears forehead and bridge of the nose has a flat surface.Sometimes large head size in these patients formed hydrocephalus, which is necessary for surgical intervention.

Achondroplasia greatly affects the development of the child.These children are a common symptom of the disease becomes upper spine kyphosis associated with poor muscle tone.But after the child begins to walk, kyphosis will gradually disappear.It was at this moment the most important is to learn to keep the back of the child so as to further prevent the emergence of a hump.

then developing lordosis in the lumbar region of the bend.As a result of these symptoms: a large head, short limbs, poor muscle tone and a rather weak joints in children with achondroplasia is a delay in the process of standing, sitting and walking alone.However, despite on such lag in motor skills, cognitive development have absolutely normal.

But congenital pathology narrowed nasal passages provokes their frequent infectious upper respiratory diseases, which can cause deafness.The small size of the jaw develop malocclusion of teeth.

very frequent clinical signs of achondroplasia in adolescents and adults are complaints of pain in the lower back and legs.This may be caused by the partial pressure of the spinal canal for the whole spinal cord.And this, in turn, can cause paralysis of the legs.

Sometimes infants with achondroplasia comes death during sleep.Doctors suggest that the cause of death is a compression of the spinal cord at the top, which makes it difficult to fully operate the respiratory system.And all this is due to the anatomical dimensions of the base of the skull and cervical vertebrae in which the spinal cord and is.

Achondroplasia treatment

for normal skeletal development, patients with achondroplasia, prescribe hormone therapy, as of today have not yet found other methods of treatment of this pathology.

hormones may slightly compensate for the lack of growth, and somehow contribute to this process.From research scientists know that the growth of children significantly increased after taking these drugs, and even reached the normal values.But no one knows whether it will be effective for the treatment of achondroplasia adults.Therefore, surgery remains the primary treatment of achondroplasia, which is carried out when the elongation of bones and upper and lower extremities.This technique requires a very long-term treatment, which may be accompanied by complications.In addition, such surgery should be performed in specialized clinics and specialists who have experience in the field of traumatology.

in the treatment of children with achondroplasia doctors use tables, which controls the size of the head and body growth of the child.If a strong increase in the volume of the head is possible to diagnose hydrocephalus.And if the diagnosis is confirmed by the survey, the neurosurgeon carries out shunting to remove excess fluid to relieve pressure on the brain.

Also, surgery is used to correct kyphosis, and the curvature of the lower extremities.But to prevent the occurrence of deafness, which can occur after infectious diseases pose to drain the middle ear through a catheter.Dental defects are resolved staging orthodontic plates on the teeth.

Since many patients with achondroplasia tend to be overweight, and this exacerbates the skeletal problems, the important thing is the correct balanced diet.

Thus, we can conclude that as long as there are no specific methods that would be able to heal from achondroplasia, but the work on this issue, scientists and geneticists, perhaps they will in the near future.

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