Artrogriposa

Artrogripozis Artrogripoza or multiplex congenital nonprogressive pathological conditions characterized include the multiple joint contractures at birth throughout the body. The term is now used in combination with a hrup heterogeneous diseases that includes multiple congenital joint contractures features.Artrogripoza is detectable at birth or in utero by ultrasound.Artrogripozei causes are varied and not yet understood fully, but presumed to be multifactorial in most cases there is a genetic disease. In 30% of cases identified a genetic component.Artrogripoza is a physical sign seen in many specific medical conditions. It may be a component of many conditions caused by maternal infection, birth defects, chromosomal abnormalities, syndromes known. The main reason is to reduce fetal movements, fetal akinesia by fetal or maternal disorders.
Prenatal factors that predict respiratory failure include loss of fetal movements, polihidraminosul, micrognathia, and thin ribs. Some patients develop secondary skeletal deformities original changes, which include scoliosis and carpal bones and deformed tarsus.Contractures can be underdeveloped limbs after enduring.Abnormal external genitalia: labia absent criptorhidism abnormal position of the balance due.
There is still a successful therapeutic technique artrogripoza. Limb alignment and is trying to establish ambulatiei and upper limb function for their own care. Early after birth, gentle physical manipulation improves passive and active movement. Early vigorous physical therapy to stretch contractures is very important to improve joint movement and prevent muscle atrophy. Patients respond well to this type of therapy. Depending on the etiology artrogripozei.Patient's evolution depends on the origin of extrinsic or intrinsic defects. Extrinsic contractures have a good evolution, while the intrinsic prognosis depends on etiology.The life of affected patients depends on disease severity and associated malformations, but is usually normal. Over 50% of patients with impaired mebrelor central nervous system dysfunction and die within the first year of life. Scoliosis can affect respiratory function.
Pathogenesis artrogripozeiArtrogripozei is the major cause of fetal akinesia (decreased fetal movements) by fetal abnormalities (neurogenic muscle or connective tissue), mechanical limitation of movement or maternal diseases (infections, trauma, drugs). Can lead to fetal akinesia polihidraminos generalized, pulmonary hypoplasia, micrognathia, ocular hypertelorism and short umbilical cord.In early embryo development is always normal joints. Movement is essential for normal development of joints and their associated structures. Lack of fetal movement cause the development of excess connective tissue around the joints and fixing joint contracture limiting the motion and aggravating. Akineziei fetal secondary contracture is more severe in patients in whom the diagnosis is made early in pregnancy and those who experience akinesia for long periods of time during pregnancy.
Causes and risk factors for artrogripoza:Artrogripozei causes are varied and not yet understood fully, but presumed to be multifactorial in most cases there is a genetic disease. In 30% of cases identified a genetic component.Molecular genetic basis of most cases is not yet determined.However, there are five seals multiplex genetic defect associated with autosomal recessive artrogripoza described:-Lethal congenital contracture syndromeArtrogripoza-type of congenital neurogenicArtrogripoza-syndrome-renal dysfunction-cholestasis-Lethal congenital contracture syndrome type 2 and 3.
Neuropathic abnormalities are the most common causes of artrogripoza. Malformations or malfunctii may include central and peripheral nerves. Abnormalities include myelomeningocele, anencephaly, holoprozencephaly, spinal muscular atrophy. Muscle abnormalities are rare causes of artrogripozei: muscular dystrophies, congenital myopathies, myositis, intrauterine.Connective tissue abnormalities of the tendons, bones, joints or ligaments can be developed by restricting fetal movements: sinostozele, fixing aberrant joints, hiperlaxitatea, dislocations.Intrauterine vascular compromise of nerve function and cause loss of muscle development akineziei fetal development.