August
12
20:06
Genetic diseases

Arachnodactyly

arachnodactyly

arachnodactyly photo arachnodactyly - is one of the symptoms of Marfan syndrome.Arachnodactyly first described by the famous French pediatrician Marfan (Marfan), giving it the name dolichostenomelia, which is still called Marfan's disease. But in 1902, "arachnodactyly" as the common name proposed Ashar (Achard).This disease is considered to be a relatively rare congenital disease.A particular advantage of the defeat of a particular sex does not exist.

arachnodactyly inherited disorder characterized by the connective tissue in the form of long, thin and curved fingers.

arachnodactyly reasons

Most of this pathology is associated with the violation of the enzymes in the body that control the formation of proteins.

Until the end is not yet clarified all the causes of such deviations.They can occur as a sporadic, and is a family disease, in which all members are subject to the defeat of the same family, perhaps even from different generations.

arachnodactyly inherited autosomal dominant and has h

igh penetrance of the mutated gene.But after the 1992 Mexican research scientists family of three generations, in which five of the six siblings were all signs of the disease suggested that arachnodactyly can be inherited in an autosomal recessive manner.

FBN 1 mutant gene is located on the shoulder of the fifteenth chromosome.It encodes the formation of glycoprotein fibrillin-1.The gene consists of 65 exons, and this in turn makes it difficult to directly analyze mutations therein.For the same reason, have not yet been proven genotype-phenotype correlation.Therefore, mutations occur in replacing protein fibrillin-1-arginine.This usually is the main cause arachnodactyly.

not the last role in the formation of blemish played by such factors that adversely affect the child during pregnancy.

arachnodactyly symptoms

arachnodactyly appears quite strong elongation of almost all long bones phalanges of the feet and hands, metacarpal and metatarsal bones, as well as changes in the shape of the skull and skeleton of the trunk.Hands and feet of such people are very narrow and long, which stretched along the long axis, and the fingers are bent in thin joints.It really looks like a spider's legs, which gave the name to this disease (from Greek arahnos - a spider).In addition to changes in the locomotor system more marked characteristic deep lesions in the cardiovascular system, as well as ophthalmic eye damage.

pathological disease arachnodactyly begins even during fetal development, and quite pronounced at birth, and then in the first period of his life.But as a rule, the pathology begins to manifest itself vigorously and intensified when the continuing development and growth of the child.

arachnodactyly refers to a very serious illness, which has adverse effects.Among them are the high overall mortality, where many children are killed in the first years of their lives than any other disease dangerous to them.Only rare benign form arachnodactyly allowed to live to a ripe age.

arachnodactyly main symptom is muscle atrophy general with the defeat of the entire musculature.It is well evident congenital amyotonia.On palpation of the limbs there is a feeling of complete lack of them, that is, they do not stand out under the skin, and in severe cases, have the consistency of mucus.Also, patients suffering arachnodactyly underdevelopment and / or absence of fat.

between the elbow, knee joints and fingers of patients can see the thin translucent membranes of the skin, membrane-like swimming waterfowl.As a result of poorly developed muscles and insufficient amounts of subcutaneous fat appears laxity in ligaments, so the segments are long, thin limbs exposed to excessive passive movement.

Patients with severe form arachnodactyly can not move independently, or movement of certain muscle groups are minimized.These people sometimes bedridden and dependent on the care of health professionals or relatives.They are extremely difficult to make even a head turning in different directions.

arachnodactyly characteristic clinical picture is fatigue and weakness of a general nature, which can occur even after a meal.

arachnodactyly For patients with head shape is characterized by large, extra large and elongated skull in length, there dolichocephaly.As a result of constant lying motionless on his back, the child can be seen flattened part of the occipital, frontal mounds protrude forward, extended nose, and the lower jaw forward so vypyachena that gives the face view of an old, sad man shackled.

for clinics arachnodactyly important symptoms improper eye development.These include - hypertelorism, subluxation of the lens, which moves only upwards, myopia, iridodenez.Clouding of the lens after dislocations, further impairs vision, and leads to the fact that the opinion of the patient becomes immobile, and it ceases to be.

abnormal development of the ears occur more often than ocular lesions.They are characterized by the absence of cartilage, making them soft and flabby.

Cardio-vascular system is determined by the abnormality in heart development, its muscles, valves and partitions between the chambers, leading to congenital heart disease.

arachnodactyly affects the central nervous system, which is characterized by a sharp mental retardation.

changes to the endocrine system is not detected.

Thus arachnodactyly - a congenital profound change in the system and mesenchymal mesodermal dystrophy.

Despite the fact that the bones lengthen and become thinner, they are not subject to warping, and they are not peculiar to the nature of the pathological fractures.

Thorax mostly deformed and has a funnel-shaped appearance.Deformation may be complicated in the curvature of the spine.It may be scoliosis, kyphoscoliosis, choked back the pelvis.

arachnodactyly treatment

At present, developed and implemented a method of pathogenetic treatment arachnodactyly that is used kollagennormalizuyuschaya therapy.

The basis of this method include the correction of metabolism of various components of the connective tissue.Even surgery on the cartilage is considered appropriate in this method of treatment.It can increase their regeneration.

Violations such as astigmatism, myopia is corrected using lenses or glasses.

Treatment VDGK (funnel chest) is to conduct thoracoplasty.This operation is necessary to eliminate the retraction of the anterior chest, which leads to a decrease in the size of the chest cavity and insufficient unfolding light.

According to testimony carried plastic aorta, extraction was the lens, tonsillectomy and adenotomy.

Thus, the main treatment for orthopedic arachnodactyly remains, is to correct all distortions.

Among the medicines prescribed and antioxidant energotropic: Limontir, coenzyme, Tokferol, Riboxinum, Piracetam and B vitamins

arachnodactyly Besides medical treatment, the patient is prescribed physical therapy sessions where the main impact is directed to the musculoskeletal system.

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