Passer aux informations produits
1 de 1

Skeletal and Connective Tissue Disorders Panel

Skeletal and Connective Tissue Disorders Panel

Disorders of the skeletal system and connective tissue are a vast and heterogeneous group of diseases, congenital or acquired, affecting the main support structures of the human body.
The connective tissue, having collagen and elastin as main protein components, guarantees structural and metabolic support to the other tissues and organs of the body, ensuring an adequate connection between them, protection, hydration and lubrication.
More than 200 pathologies of connective and musculoskeletal tissue are known, capable of affecting any structure and apparatus, leading to often disabling consequences for those affected. In most cases, it is the joints, muscles, skin and blood vessels that are severely affected, but this type of disorder can also affect internal organs such as the kidneys, eyes, heart and lungs.
Some connective tissue diseases are congenital, i.e. present from birth, therefore caused by specific genetic mutations. Among the most common we can mention the Ehlers-Danlos Syndrome (characterized, among other symptoms, by articular hypermobility and skin laxity, as well as by fragility of the blood vessels, in the vascular subtype); Marfan Syndrome, rare, which affects eyes, bones and ligaments, heart and blood vessels. One of its main complications is aortic dissection. Also in Loeys-Dietz Syndrome, divided into 5 types, there is a serious compromise of the aortic walls, which can undergo rupture. In addition, affected individuals may present with craniosynostosis (early fusion of the cranial bones), severe scoliosis and other skeletal deformities such as a marked prominence of the sternum (pectus carinatum).
While in the aforementioned cases the genetic defect is known, in numerous other connective tissue pathologies the cause is unknown: we speak of multifactorial pathogenesis, to which environmental and endogenous factors can contribute, which often originate from autoimmune mechanisms. The disorders that belong to this group include Rheumatoid Arthritis (a chronic inflammatory condition, which initially involves small joints and then expands to large ones, causing pain, swelling and deformity), Systemic Lupus Erythematosus (with a clear prevalence in females and characterized by cutaneous and mucous erythematous manifestations) and Sjögren's Syndrome (in which pathological autoimmune phenomena affect the exocrine glands).
In some cases, signs and symptoms of mixed connective tissue disease may occur.
The skeletal system can undergo numerous types of morphological and functional alterations, some of which are extremely rare and have a strong impact on the life of the affected subjects. They include the various forms of Skeletal Dysplasia, which include approximately 400 conditions affecting bone, cartilage and neurodevelopment. These are rare genetic diseases in which the bones, especially in the skull, spine and limbs, develop abnormally. In Osteogenesis Imperfecta (which, as the name suggests, determines an altered formation of bone tissue, due to collagen alterations), the affected subjects have a marked decrease in bone mass associated with an increase in fragility, with a consequent greater tendency to fractures. Spinal deformities also predispose to respiratory problems that affect prognosis.
Achondroplasia and Achondrogenesis also belong to this group. The first case, lethal in the homozygous state, causes disharmonic dwarfism (the limbs grow less than the rest of the body, causing disproportion between the various parts of the body); the second, on the other hand, originates from defects in endochondral ossification and has a poor prognosis due to the serious morphological and functional alterations of the osteo-cartilaginous apparatus.
In many cases of hereditary pathologies of skeletal development, severe bone alterations are accompanied by neurodevelopmental deficits (think of microcephaly, which does not allow adequate growth of the brain), which can cause epileptic manifestations and delayed psychomotor development.
The clinical picture of skeletal and connective tissue disorders is therefore extremely complex and has systemic consequences, given the importance of the structures involved.
This panel analyzes the main genes afferent to this clinical field.
Prix habituel €49.00 EUR
Prix habituel Prix soldé €49.00 EUR
Vente Épuisé
Afficher tous les détails

Ce produit est uniquement destiné aux clients qui ont déjà acheté un test MyGenome.