/intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked

intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked

Rare Disease

MONDO:0010232

Also Known As

congenital short bowel syndrome, X-linked recessiveintestinal pseudoobstruction, neuronal, X-linked recessiveintestinal pseudoobstruction, neuronal, chronic idiopathic, X-linkedCIIPCIIP X-linkedCIIPXCiip, X-linkedIpoxcongenital idiopathic intestinal pseudoobstructioncongenital short bowel syndrome, X-linkedintestinal pseudoobstruction neuronal chronic idiopathic X-linkedintestinal pseudoobstruction, neuronal, chronic idiopathic, with central nervous system involvement

Definition

Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic). When intestinal pseudo-obstruction occurs by itself, it is called primary or idiopathic (unknown cause) intestinal pseudo-obstruction. The disorder can also develop as a complication of another medical condition; in these cases, it is called secondary intestinal pseudo-obstruction. Individuals with this condition have symptoms that resemble those of an intestinal blockage (obstruction) but without any obstruction. It may be acute or chronic and is characterized by the presence of dilation of the bowel on imaging. The causes may be unknown or due to alterations (mutations) in the FLNA gene, other genes or are secondary to other conditions. It may be inherited in some cases. Intestinal pseudoobstruction neuronal chronic idiopathic X-linked is caused by alterations (mutations) in the FLNA gene which is located in the X chromosome. There is no specific treatment but several medications and procedures may be used to treat the symptoms.