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Don’t fight Arthrogryposis multiplex congenita neurogenic type alone.
Find your community on the free RareGuru App.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.
Source: GARD Last updated on 05-01-20
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)
Last updated on 05-01-20
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.
Last updated on 05-01-20
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.
Last updated on 05-01-20
Treatment of arthrogryposis (joint contracture) involves occupational and physical therapy, well-fitted orthoses (splints and braces), and corrective surgery (if indicated). With treatment most kids can improve their range of motion, muscle strength, and function.
Last updated on 05-01-20
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