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Condition

Arthrogryposis Multiplex Congenita Neurogenic Type

Symptoms, Doctors, Treatments, Research & More

Condition 101

What is the definition of Arthrogryposis Multiplex Congenita Neurogenic Type?

Arthrogryposis multiplex congenita neurogenic type (AMCN) refers to the development of multiple joint contractures affecting two or more areas of the body prior to birth. A contracture occurs when a joint becomes permanently fixed in a bent or straightened position, which can impact the function and range of motion of the joint and lead to muscle atrophy. Signs and symptoms of AMCN vary. AMCN can affect upper and lower joints, including the wrists, elbows, fingers, knees, ankles, and hip.  In AMCN, arthrogryposis occurs as a result of the abnormal development of cells in the spinal cord (anterior horn cells) or brainstem (motor nuclei). AMCN often occurs sporadically (in a person with no family history of the condition), however families with multiple affected  members have also been reported. In most cases, the underlying genetic cause remains unknown.

What are the alternative names for Arthrogryposis Multiplex Congenita Neurogenic Type?

  • AMCN
  • AMC, neurogenic type
  • Neurogenic type of AMC

What are the causes for Arthrogryposis Multiplex Congenita Neurogenic Type?

In arthrogryposis multiplex congenita neurogenic type (AMCN), arthrogryposis occurs as a result of the abnormal development of cells in the spinal cord (anterior horn cells) or brainstem (motor nuclei). AMCN often occurs sporadically (in a person with no family history of the condition), however families with multiple affected members have also been reported. In these families, genetic linkage studies may give information on how the condition is being passed through the family. The cause of AMCN is poorly understood. To date no single gene mutation has been found to cause AMCN.

What are the symptoms for Arthrogryposis Multiplex Congenita Neurogenic Type?

Arthrogryposis multiplex congenita neurogenic type (AMCN) causes multiple joint contractures affecting two or more areas of the body prior to birth.  A contracture occurs when a joint becomes permanently fixed in a bent or straightened position, which can impact the function and range of motion of the joint and lead to muscle atrophy. The contractures may occur alone or along with brain malformations. Learning can be normal to severely impaired depending on the presence of a brain malformation. The following additional symptoms have been reported in individual cases:

Scoliosis
Hip dysplasia
Hip dislocation
Differences in facial appearance (e.g., small lower jaw, wide spaced eyes, drooping eyelids, down turned mouth)
Differences in head shape (e.g., craniosynostosis)
Rocker bottom feet (feet with a rounded bottom)

What is the outlook (prognosis) for Arthrogryposis Multiplex Congenita Neurogenic Type?

Long term outlook is good for most people with AMCN, however symptoms can vary greatly. Life threatening respiratory problems in early infancy (first year of life) has been rarely reported. Some infants with AMCN have significant feeding problems, particularly those with brain malformation or small jaw (micrognathia). Children with AMCN affecting lower limbs are often able to walk, but may require knee ankle foot orthoses or corrective footwear. AMCN does not tend to worsen over time. Muscle strength does not tend to worsen, however contractures can lead to worsening of function ability. In the absence of brain malformations, outlook for cognition and learning is good.

Top Global Doctors

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Sebahattin Cirak
Koeln, NW, DE
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Gunnar Houge
Bergen, 12, NO
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Hiromi Hirata
Sagamihara, 14, JP
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Raoul A. Heller
Koeln, NW, DE
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Francesco Muntoni
London, ENG, GB
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Markus Storbeck
Hilden, NW, DE

Latest Research

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Clinical Trials

Clinical Trial
Other
  • Status: Recruiting
  • Participants: 20000
  • Start Date: July 2010
Coordination of Rare Diseases at Sanford