Arthrogryposis

Definition

Definition of Arthrogryposis
Arthrogryposis, also known as Arthrogryposis Multiplex Congenita, is a rare congenital disorder that is characterized by multiple joint contractures and can include muscle weakness and fibrosis. It is a non-progressive disease. The disease derives its name from Greek, literally meaning 'curved or hooked joints'.

There are many known subgroups of AMC, with differing signs, symptoms, causes etc. In some cases, few joints may be affected and may have a nearly full range of motion. In the most common type of arthrogryposis, hands, wrists, elbows, shoulders, hips, feet and knees are affected. In the most severe types, nearly every joint is involved, including the jaw and back.

Symptoms

Symptoms of Arthrogryposis
There are numerous symptoms for this group of conditions. Some of the more common signs and symptoms are associated with the shoulder (internal rotation), elbow (extension and pronation), wrist (volar and ulnar), hand (fingers in fixed flexion and thumb-in-palm), hip (flexed, abducted and externally rotated, often dislocated), knee (flexion) and foot (clubfoot). Complications may include scoliosis, pulmonary hypoplasia, respiratory problems, growth retardation, midfacial hemangioma, facial and jaw variations, and abdominal hernias. Cognition and language are usually normal.

Causes

Causes of Arthrogryposis
The cause is unknown, although several mechanisms have been suggested. This includes hyperthermia of the fetus, prenatal virus, fetal vascular compromise, septum of the uterus, decreased amniotic fluid, muscle and connective tissue developmental abnormalities. In general, the causes can be classified into extrinsic and intrinsic factors.

Diagnosis

Diagnosis of Arthrogryposis
To date, no prenatal diagnostic tools are available to test for the condition. Diagnosis is only used to rule out other causes. This is done by undertaking muscle biopsies, blood tests and general clinical findings rule out other disorders and provides evidence for AMC.

Treatment

Treatment of Arthrogryposis
While there is no reversal of this condition, individual quality of life can be greatly improved. As each person will respond differently, and will have different needs, a combination of therapies is beneficial. Physical therapy including stretching, strengthening, and mobility training are often provided to improve flexion and range of motion to increase mobility. Occupational therapy (may also include casting, splinting of affected joints) can include training in ADL and fine motor skills as well as addressing psychosocial and emotional implications of living with a disability. Since there is a variety of mobility impairments, individually tailored orthopaedic correction is often beneficial. Orthopedic surgery, which include osteotomy or external Ilizarov fixator, may be elected to correct severely affected joints and limbs and symptoms such as clubfoot, hernia repair and correction of unilateral hip dislocation, in cases where these surgeries improve quality of life. However, in most cases, the contractures would recur despite surgery. A surgery called Tendon Release is usually done to stretch out the tendon the makes most patients walk on their toes.

Prognosis

Prognosis of Arthrogryposis
Individuals with AMC are aided by vigorous therapy and in some cases surgical intervention. This varies to some degree, depending on the severity of mobility reduction. AMC is not a progressive disorder. Typically these individuals have normal cognition and speech and therefore the potential for productive, rewarding, and independent lives.

Prevention

Prevention of Arthrogryposis
There is no known prevention.