What is Arthrogryposis?

Arthrogryposis is a term used to describe a contracture (permanent shortening) of a joint that is present at birth. This rare condition begins in the womb. Muscles and joints that are affected by this condition do not develop normally and are stiff and inflexible. If a person has more than one location where joints are contracted and/or stiff, the condition is called, arthrogryposis multiplex congenita (AMC). Most often affected joints are in the arms and legs, but this condition can also happen in the skull, facial bones or spine. There are currently more than 300 known genetic abnormalities that are associated with arthrogryposis.

If you or your child’s pediatrician is worried your child has a form of arthrogryposis, our experts can help. At Children’s Healthcare of Atlanta, our leading clinicians provide specialized, tailored and comprehensive care for patients who have arthrogryposis.

Arthrogryposis multiplex congenita (AMC):

  • Is congenital (happens before birth).
  • Is nonprogressive—more of the body’s joints won’t develop arthogryposis. But the contractures can worsen over time, especially without treatment.
  • Causes multiple joint contractures (two or more joints are affected). Typical patterns include tight shoulders, straight elbows and bent wrists.

Common signs of arthrogryposis

  • Two or more joints that are limited in motion
  • Loss of the skin creases over the joints, especially the knees, elbows and fingers
  • Difficulty moving joints
  • Bones above or below the affected joints that appear curved or bowed
  • Delayed motor movement

Causes of arthrogryposis

The true cause of arthrogryposis is unknown, especially since it’s associated with so many different genetic mutations. It is thought that some types of arthrogryposis may be caused by reduced fetal movement in the womb.

Types of Arthrogryposis

Amyoplasia or classic arthrogryposis

  • Most common type of arthrogryposis also referred to as classic arthrogryposis or amyoplasia. It describes a condition where there are multiple contractures affecting the upper and lower limbs in a fairly characteristic patterns

  • Muscles are less developed

  • Joints are stiff on many parts of the body, both in the arms and legs

  • May also affect the back and the jaw

  • Children may be subjected to muscle weakness along with stiffness of the joints

Arthrogryposis multiplex congenita

  • Describes a variety of conditions that produce congenital joint contractures. 
  • Arthrogryposis refers to a clinical condition in which there are multiple joint contractures present at birth. 
  • There are a variety of potential causes, and they tend to be grouped into three categories.

Distal arthrogryposis

  • This describes several distinct congenital syndromes that are ‘related’ by the commonality of congenital contractures affecting the hands and/or feet.
  • Sometimes runs in families
  • Sometimes associated with facial differences

Syndromic arthrogryposis

  • There are a multitude of congenital syndromes and neurological conditions in which children have multiple joint contractures as a part.
  • Affects muscles and joints similar to other types of arthrogryposis
  • Sometimes affects vital organs as well, leading to breathing and speech challenges
  • Feeding may be difficult for infants

How is Arthrogryposis Diagnosed?

How do I know if my child has arthogryposis?

If you suspect that you child has a form or arthogryposis, you should take him to be seen by a specialist as soon as possible. Our providers will use several types of tests and a physical exam to determine if your child has arthrogryposis. These tests can include:

  • Computed Tomography (CT) scan
  • Electromyogram and nerve conduction velocity (EMG/NCV)
  • Genetic testing
  • Magnetic Resonance Imaging (MRI)
  • Muscle biopsy
  • Ultrasound
  • Range-of-motion testing
  • Muscle testing

Diagnosis of arthrogryposis during pregnancy

Sometimes, arthrogryposis will be detected during a regular prenatal ultrasound. If this is the case, we offer prenatal consultation appointments. We recommend scheduling an appointment as soon as possible. Early intervention and treatment can mean a more positive outcome for your baby.

Services We Offer

How is arthrogryposis treated?

Treating arthrogryposis often requires a collaborative effort among several specialties. The main goal is to get muscles and joints moving more normally. Physical therapy and occupational therapy are critical to gaining range of motion. Splinting and casting may be used by physical and occupational therapists to help stretch joints and align bones.

Nonsurgical treatments can include:

  • Occupational therapy
  • Physical therapy
  • Speech therapy
  • Assistive technology
  • Orthotics
  • Prosthetics

Sometimes, surgery may be recommended to help with movement if physical therapy has not improved function enough. Our team helps assess each patient to determine if surgery can help with function.

Some common surgical treatments of arthrogryposis are:

  • Joint procedures
    • Joint releases—to loosen stiff joints that therapy cannot
    • Open Reduction—to fix a dislocated or misshapen joint 
  • Muscle/tendon procedures
    • Muscle/tendon lengthenings—to improve joint releases
    • Tenotomy—to release tight tendons
    • Tendon transfer—to create active mobility in a joint that is mobile but weak
  • Bone procedures
    • Osteotomy—to realign bones or joints that are bent or twisted

Meet the Team

Our pediatric trained team works together to deliver care to patients with arthropgryposis. Our team includes: