Arthrogryposis Multiplex Congenita

What is Arthrogryposis?

This is an uncommon congenital anomaly marked by joint contractures that affects the normal range of motion in one or more joints. In Greek, the disorder refers to curved or hooked joints. The condition is also called arthrogryposis multiplex congenita (AMC).

Arthrogryposis multiplex congenita

Arthrogryposis Types

The condition is classified into the following types:

  • Amyoplasia

  • Arthrogryposis ectodermal dysplasia/Cote Adamopoulos Pantelakis syndrome/Trichooculodermovertebral syndrome/TODV syndrome/Alves syndrome

  • Arthrogryposis multiplex

  • Arthrogryposis IUGR thoracic dystrophy/Van Bervliet syndrome

  • Arthrogryposis epileptic seizures migrational brain disorder

  • Arthrogryposis-like hand anomaly

  • Arthrogryposis-like disorder

  • Arthrogryposis multiplex congenita distal/Arthrogryposis multiplex congenital/Arthrogryposis spinal muscular atrophy

  • Arthrogryposis multiplex congenital/Distal type 2B/Freeman-Sheldon syndrome variant

  • Arthrogryposis multiplex congenita CNS calcification

  • Gordon Syndrome/Distal Arthrogryposis/Type 2A

  • Arthrogryposis multiplex congenita whistling face/Illum syndrome

  • Arthrogryposis renal dysfunction cholestasis syndrome/ARC Syndrome

  • Arthrogryposis multiplex congenital/Distal type 1

  • Arthrogryposis multiplex congenita neurogenic type/Arthrogryposis multiplex congenita pulmonary hypoplasia

  • Arthrogryposis ophthalmoplegia retinopathy/Oculomelic amyoplasia

Arthrogryposis Symptoms

In this condition, the muscles loose strength and undergo excessive thickening as well as scarring. The other classical symptoms of this condition include:

  • Internal rotation of the shoulders

  • Involuntary twisting of the hands and forearms

  • Stretching of the elbows

  • Immobility of the ankle and wrists joints

  • External rotation or dislocation of the hip

  • Bending of the knee and foot

Arthrogryposis Causes

The exact etiologic factors responsible for this congenital defect are yet to be identified. Medical experts believe that contracture or shortening of a normal joint is usually a result of restricted fetal movement. Joints that remain in the static position get deposited with a layer of connective tissue. This causes the tendons, bones, joints or joint linings to develop in an abrupt manner and makes them further immovable. In fact, lack of joint movement leads to short tendons. In rare cases, the disorder has been linked to a genetic factor. The other possible causes of the condition may include:

Fetal vascular compromise

In this case, the fetal blood vessels may undergo inflammation and inflict severe injuries on the joints.

Viral infection

In several instances, a maternal virus may get transmitted to the fetus through the placenta and affect the growth of the joints at the prenatal stage.

Fetal hyperthermia

Maternal fever can abruptly raise the body temperature of the fetus and affects the joints due to lack of thermoregulation during pregnancy.

Loss of amniotic fluid

Placental problems or ruptured membranes can lower the amniotic fluid levels and impair the development of the joints.

Uterine septum

It is a typical form of a congenital malformation in which a septum grows in the middle of the uterine cavity. The partition can often affect flexibility of the joints.

Neurological disorders

Defects in the central nervous system and spinal cord can contribute to arthrogryposis multiplex congenital.

Arthrogryposis Diagnosis

Presently, there are no prenatal screening tests available for this condition. However, affected infants as well as young children may require the following diagnostic exams:

X-ray

Structural abnormalities in the joints and bones can be easily detected using this test.

Ultrasound

An ultrasound scan works as an effective diagnostic tool to spot any defects in the central nervous system.

Imaging studies

CT or MRI scans of the bones and joints can accurately determine the underlying causes responsible for multiple contractures.

Biopsy

A small sample of skeletal muscle or skin can be sent for a histological examination to rule out the possibility of other disorders.

Electromyogram and nerve conduction velocity studies

Slow conduction of electrical impulses through the nerves signifies a neurological disorder.

Arthrogryposis Treatment

The disorder cannot be cured completely, but timely accomplishment of certain remedial techniques can greatly improve the condition of the patients. Some of these methods are:

Physical therapy

The range of motion of the affected joints can be remarkably corrected by stretching, strengthening, and natural movement training. The various modalities of physiotherapy can significantly strengthen the joints by increasing the flexibility and mobility.

Occupational therapy

Apart from stretching, splinting and casting of the joints, health specialists emphasize on therapeutic use of everyday activities to incorporate training in fine motor skills. Patients experiencing physical and cognitive changes due to the joint deformities are given psychological and psycho-social support.

Surgery

It is highly essential to go for an orthopedic repair of the joints due to the presence of a host of complexities associated with movement. Severely affected joints may have to undergo osteotomy in which a wedge of bone is removed or excised near a damaged joint. Many patients opt for tendon release that enables them to walk normally.

Arthrogryposis Complications

Some of the complications associated with the disorder are:

  • Pulmonary problems

  • Scoliosis

  • Growth retardation

  • Midfacial hemangioma

  • Facial and jaw variations

  • Abdominal hernias

Arthrogryposis Prognosis

The severity of the condition determines the effectiveness of the various therapeutic methods. Affected patients display normal cognitive behavior and have a good command over their speech. However, structural anomalies often ruin their routine activities.

Arthrogryposis is a non-progressive disorder that does not lead to any fatal consequences. However, prompt diagnosis and correction of the joint anomalies can significantly ameliorate the symptoms. Patients can join certain support groups to cope with the disorder.

Arthrogryposis Pictures

photo of Arthrogryposis

picture of Arthrogryposis

Arthrogryposis Images

Arthrogryposis Hand Image

Reference:

http://www.childrenshospital.org/health-topics/conditions/arthrogryposis

http://emedicine.medscape.com/article/941917-overview

http://children.webmd.com/arthrogryposis-multiplex-congenita

http://www.patient.co.uk/doctor/Arthrogryposis-Multiplex-Congenita.htm

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