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Arthrogryposis – Pictures, Symptoms, Causes, Treatment

Updated on November 25, 2013

Arthrogryposis is an uncommon congenital condition which is distinguished by the presence of several joint contractures. It can also elicit fibrosis and weakness of the muscles. It is often referred to as AMC or arthrogryposis multiplex congenital. This non-progressive disorder gets its name from the Greek language, and literally means ‘hooked or curved joints.’

Arthrogryposis has many types of subgroups and each of them elicit different signs and symptoms, as well as have different causes. Some patients may experience arthrogryposis in only a few joints. They may also have just about the complete range of motion in such joints.

Amyoplasia is the most widespread form of arthrogryposis. It typically affects joints of the wrists, hands, shoulders, elbows, feet, hips, and knees. Individuals affected by extreme forms of arthrogryposis may experience disorders of all the joints, including the back and the jaw.

In most cases, muscle weakness accompanies the joint contractures, which further restricts the movements. Arthrogryposis generally occurs in a symmetrical pattern and affects all the 4 extremities along with a few differences.

Symptoms of arthrogryposis

Arthrogryposis is characterized by a variety of signs and symptoms.The parts of the body which are most commonly affected include the following:

  • Pronation and extension of the elbows

  • Internal rotation of the shoulders

  • Ulnar and volar wrist joints

  • The hip is mostly dislocated. It may be abducted, flexed, and/or rotated outwardly

  • The thumb may be ‘in-palm’ and fingers may remain in rigid flexion

  • Clubfoot may be present

  • Knees may elicit flexion

  • Language and cognition is not affected

  • Arthrogryposis may result in the numerous medical complications such as pulmonary hypoplasia, scoliosis, respiratory issues, midfacial hemangioma, retarded growth, abdominal hernias, and variations in the jaw and facial bones

Causes of arthrogryposis

The cause of arthrogryposis is not known. However, the condition has been attributed to a number of causal factors such as prenatal viral infections, fetal hyperthermia, vascular compromise of the fetus, reduced amounts of amniotic fluid, uterus septum, abnormalities in development of connective tissue and muscle, etc. The causes can thus be categorized into internal and external factors.

  • Internal factors: It can include neurological defects wherein the spinal cord and central nervous system are malformed. In such instances, arthrogryposis is generally accompanied by a variety of other disorders.Issues of the connective tissue which results in abnormal development of the bones, tendons, joint linings, or joints. For example, tendons may not be attached at the right area in a joint.

  • External factors: The normal movement of fetus is hampered by reduced space in the uterus, due to fetal crowding, abnormal shape of the uterine muscles, or due to lowered quantities of maternal amniotic fluid.

Studies have indicated that any kind of obstruction in the normal movement of joints before delivery can cause the formation of joint contractures. The joint may develop normally. However, when there is no movement of the joints for an extended period of time, then additional growth of connective tissue occurs around the joint so as to fix it in a particular position.

Reduced or no movement also signifies that the tendons which are connected to the joints do not undergo normal stretching. This can result in shorter tendons which then hamper normal movement of joints. It may be noted that individuals can also develop this kind of problem after birth, when the use of casts immobilizes the joint for long durations.

The main cause of arthrogryposis has been attributed to the presence of fetal or maternal abnormalities which results in reduced movements of the fetus. Myopathic and neurogenic conditions are also involved with arthrogryposis. It is understood that the neuropathic type of arthrogryposis is associated with degradation of the anterior horn cell which in turn leads to fibrosis and weakness of muscles.

Most cases of arthrogryposis do not have genetic causes. It rarely occurs twice in a single family. A genetic cause can be found in only about 30 percent of the arthrogryposis cases. The risk to arthrogryposis differs as per the kind of genetic condition that is present. An uncommon autosomal recessive type of arthrogryposis is known to be present.

Treatment of arthrogryposis

The abnormalities associated with arthrogryposis cannot be rectified or reversed. However, a combination of different therapies can help in improving the life of individual patients.

  • Occupational therapy can include splinting the abnormal joints, casting, etc. in addition to fine motor skills and ADL training, addressing the emotional and psychosocial consequences of leading a disabled life, etc.

  • Physical therapy can include strengthening, stretching, and movement training. This will help in enhancing the range of motion and flexion, thereby increasing mobility.

  • Orthopedic correction is also useful. Extremely disabled joints like hip dislocation, clubfoot, etc. can be corrected by orthopedic surgeries such as external Ilizarov fixator or osteotomy. Patients may also go for corrective surgeries which help in improving the quality of life.

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