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Condition
Arthrogryposis Multiplex Congenita Neurogenic Type
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 ...
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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.
Latest Research
There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.
Clinical Trials
Clinical Trial
Other
- Status: Recruiting
- Participants: 20000
- Start Date: July 2010