Arthrogryposis

What is Arthrogryposis?

Arthrogryposis is a term used to describe a number of rare conditions characterized by stiff joints and abnormally developed muscles. At Washington University Orthopedics, we uniquely offer an Arthrogryposis Center to provide your child with comprehensive care.

Arthrogryposis occurs in one of every 3000 births, and differentiates as 150 variations. Typically, arthrogryposis is grouped into three main categories:

  1. Conditions affecting only the arms and legs
  2. Conditions affecting the limbs and other areas of the body
  3. Conditions affecting the limbs and central nervous system

Fast Facts:

  • 60% of people diagnosed with arthrogryposis are affected in all four limbs
  • 25% of people diagnosed with arthrogryposis are only affected in their legs
  • 15% of people diagnosed with arthrogryposis are only affected in their arms

Amyoplasia, characterized by a lack of or abnormal muscular growth, is the most common form of arthrogryposis. It is estimated that approximately 33% of people diagnosed with arthrogryposis have amyoplasia. This form is not typically caused by genetic abnormalities. The incidence of true amyoplasia occurs in 1 out of every 10,000 live births.

Distal arthrogryposis is characterized by the presence of contractures in the hands and feet. Distal arthrogryposis typically results from genetic mutations. There are several sub-types of distal arthrogryposis, distinguished by their associated physical characteristics. Type 1 distal arthrogryposis typically involves overlapping fingers, clenched hands, finger contractures and clubfeet. Freeman Sheldon and Sheldon Hall syndromes are the most common types of distal arthrogryposis.

Common characteristics and complications associated with arthrogryposis:

  • Clubfeet
  • Dislocated hips
  • Facial asymmetry
  • Facial birthmarks
  • Hand contractures
  • Internally rotated shoulders and limbs
  • Intestine, kidney, bladder and genital malformation
  • Muscle absence or atrophy
  • Respiratory problems and aspiration of fluids
  • Scoliosis
  • Webbed and/or dimpled skin

What causes arthrogryposis? 

The exact cause is not yet understood. Decreased fetal movement due to fetal or maternal abnormalities cause the joint contractures. Genetic abnormalities are responsible for some forms of distal arthrogryposis.

How is arthrogryposis diagnosed? 

There is no prenatal diagnostic tool to test for this condition. During a routine ultrasound, abnormal limbs may be noted, but no definitive cause can be ascertained until further tests can be run.

  • Clinical and physical exam by orthopedic provider, including imaging studies such as an x-ray, CT scan or MRI.
  • Blood work is typical, especially genetic testing which would be completed by a genetics specialist. 
  • Muscle biopsies are sometimes done to determine a cause or rule out other conditions.
  • At times, an electromyography (EMG), will be performed to make a distinction between myopathic and neurogenic arthrogryposis.

What is the treatment for arthrogryposis? 

Treatment of arthrogryposis multiplex congenita (AMC) varies based on the signs and symptoms presented in each person and the severity of the condition.

Non-surgical Treatment

  • Physical and occupational therapy
  • Bracing
  • Casting
  • Family counseling
  • Adaptive equipment evaluation

Surgical Treatment

Typically, surgical correction is necessary for the correction of clubfeet, knee contractures, hip dislocations or in upper limbs to correct deformities that limits or interferes with function.

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