Arthrogryposis: Description, Causes and Risk Factors:Congenital defect of the limbs characterized by severe contractures of multiple joints.Arthrogryposis is a term used to describe a number of rare conditions characterized by stiff joints and abnormally developed muscles. It is also referred to as arthrogryposis multiplex congenital, or amyloplasia. Arthrogryposis is not thought to be a genetic or hereditary condition. Arthrogryposis is a rare condition, though the exact frequency with which it occurs is unknown. Previous studies estimate that it affects one to three of every 10,000 babies.The exact cause of arthrogryposis is unknown, but a number of different theories have been proposed:Some believe that arthrogryposis is caused by obstructions to intrauterine movement during pregnancy.
Others believe that it may be a result of an early viral infection during a baby's development.
Others believe that arthrogryposis is the result of failure of the central nervous system and/or muscular system to develop appropriately.
The major cause of arthrogryposis is fetal akinesia (i.e., decreased fetal movements) due to fetal abnormalities (eg, neurogenic, muscle, or connective tissue abnormalities; mechanical limitations to movement) or maternal disorders (eg, infection, drugs, trauma, other maternal illnesses). Generalized fetal akinesia can also lead to polyhydramnios, pulmonary hypoplasia, micrognathia, ocular hypertelorism, and short umbilical cord.During early embryogenesis, joint development is almost always normal. Motion is essential for the normal development of joints and their contiguous structures; lack of fetal movement causes extra connective tissue to develop around the joint. This results in fixation of the joint, limiting movement and further aggravating the joint contracture. Contractures secondary to fetal akinesia are more severe in patients in whom the diagnosis is made early in pregnancy and in those who experience akinesia for longer periods of time during gestation.The lifespan of affected individuals depends on the disease severity and associated malformations but is usually normal. About 50% of patients with limb involvement and CNS dysfunction die in the first year of life. Scoliosis may compromise respiratory function.Symptoms:Each child experience symptoms differently, but here is a list of some common ones:The range of motion (ROM) of the joints in your child's arms and legs may be limited or fixed.
Your child's shoulders may be rotated inward.
He/she may have abnormal extension of elbows.
He/she may be able to flex wrists and fingers abnormally.
He/she could have dislocated hips.
He/she may have clubfoot.
Diagnosis:Your child's doctor can make a diagnosis after a thorough medical history and careful physical examination.X-rays often confirm the diagnosis and are helpful when your child's doctor is evaluating stiff or dislocated joints.Additional tests, including blood tests, muscle biopsies and other imaging studies, help doctors confirm the diagnosis.Treatment:No completely successful approach to treat arthrogryposis has been found. Goals include lower-limb alignment and establishment of stability for ambulation and upper-limb function for self-care. Early gentle manipulation soon after birth improves passive and active range of motion. This is especially true in the case of the inherited distal arthrogryposes, in which prolonged immobilization associated with casting may be undesirable. Late manipulation is of little value.Early vigorous physical therapy to stretch contractures is very important in improving joint motion and avoiding muscle atrophy. Your child's doctor may prescribe physical and occupational therapy to increase your child's muscle strength and improve flexibility. Splints can also increase your child's range of motion. A removable splint works so that the joints can be moved and muscles exercised periodically. In some cases, merely wearing a splint at night may be sufficient.Patients with amyoplasia or distal arthrogryposis respond well to physical therapy with excellent functional outcome. However, physical therapy may actually be harmful in patients with diastrophic dysplasia, because it may lead to joint ankylosis. Recurrence of deformities following stretching is common, and surgery is often indicated.Feeding assistance and intubation is needed in patients with severe trismus.Surgery: Your child's doctor may recommend surgery to improve how she can position and move her limbs. These procedures may include muscle releases, tendon transfers or bony fusions to improve flexibility and correct deformities.NOTE: The above information is for processing purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.
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