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Arthrogryposis - arthrogryposis multiplex congenita

Arthrogryposis (myodystrophia fetalis congenita, dysplasia myoosteoarticularis, amyoplasia congenita) is a congenital locomotor muscles disease, represented by joint contractures.

Joints are cylindrical and contures are still present, but skin and muscle groups visage is partially displaced.

Clinical symptoms are visible already at birth. Otto and Retard were the first to describe the disease at the beginning of 20th century.

There is more than one explanation of its cause, and some of them are:
  • Neurogenic
  • Primary muscle changes
  • Intra-amnionic pressure changes
  • Hormonal imbalance
  • etc.

Neurogenic theory is most often mentioned as an explanation of fetal dystrophic changes in arthrogryposis – neurogenic damage of effector organs. Pathohistological image is similar to progressive muscle dystrophy, with sarcoplasmic hypertrophy present, followed by atrophy and fibrotic degenerative changes. This is why muscles react poorly to electrostimulation, with no tendon reflexes. This muscle degeneration causes shortening of muscle tissue, which in turn causes joint contractures. Normal muscle function is lost and muscles show imbalance between agonists and antagonists development, resulting in contractures. Later, changes in joint balls are seen which further complicate patient's state. Clinical image shows flexion and extension contractures with hand joint deformations. Hips are usually in flexo-adductive contraction and are often sprained, while the feet are often equinovaric. Patellas are often missing. Shoulder joint is in adductive contraction, elbow is extended, and hand is flexes and pronated, while fingers are in flexed contraction. Arthrogryposis can affect individual body parts, some joints even asymmetrically, and it is often seen combined with some other diseases like Marfan syndrome, syndactyly, polydactyly...

Treating arthrogryposic patients is long and complex. Therapy must start at an early age, right after birth, with the primary goal being to enable the patient for independent movement skills and gripping with the hand. Rehabilitation includes procedures that influence muscle strength as well as gymnastics which affects range of movement. Sometimes surgery is performed, mostly in corrective purposes, like equinovarus correction.

Once again, I would like to emphasize the importance of corrective gymnastics on a constant daily basis, starting from the birth.

 

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