genetic diseases

Arthrogryposis - Causes and Symptoms

Definition

Arthrogryposis is a multiple joint contracture, involving two or more anatomical districts.

This clinical sign is congenital and can occur in different pathological conditions. Arthrogryposis may be sporadic or arise on a genetic basis.

The causes are partly unknown, but it is assumed that the origin can be multifactorial. In any case, this manifestation compromises the normal development of the joints in the second trimester of pregnancy and seems to be associated with the intervention of factors that act by limiting or preventing fetal movements in the uterus. This situation would lead to the proliferation of collagen and the replacement of muscle tissue with a fibrous component.

Arthrogryposis may occur in the case of neurological or musculoskeletal disorders (such as muscular dystrophies, connective tissue disorders, spinal muscular atrophy and congenital peripheral neuropathies). This manifestation may also be associated with problems encountered during pregnancy, such as disorders that prevent the child's movements in the uterus (eg oligohydramnios, multiple pregnancies and uterine malformations).

Furthermore, arthrogryposis may occur in the context of some genetic disorders, including trisomy 18 (or Edwards syndrome).

Possible Causes * of Arthrogryposis

  • Spinal Muscular Atrophy
  • Gestational diabetes
  • Trisomy 18