Abdominal Muscle Deficiency Syndrome

Abdominal muscle deficiency syndrome: Description, Causes and Risk Factors:

Abdominal muscle deficiency syndromeAbdominal muscle deficiency syndrome is characterized by a triad of abnormalities that include, absence of the lower portion of the rectus abdominis muscle and the inferior and midportions of the oblique muscles (causing the skin of the abdomen to wrinkle like a prune), undescended testicles (a condition seen in newborns whereby one or both of the male testes has not passed down into the scrotal sac), an abnormal, expanded bladder and problems in the upper urinary tract, which may include the bladder, ureters, and kidneys.

Abdominal muscle deficiency syndrome is rare in children and occurs mostly in boys. Several cases have been reported in girls and are usually milder than in boys. As males suffering from abdominal muscle deficiency syndrome are sterile, they cannot transfer pathological genes, that is to say, the disease itself.

The etiology and pathogenesis of abdominal muscle deficiency syndrome are still quite vague, despite very intensive investigations performed in that field. According to data in the literature, disturbances responsible for the occurrence of abdominal muscle deficiency syndrome can be induced by genetic susceptibility, chromosomal anomalies, and other factors. The condition similar to abdominal muscle deficiency syndrome has been induced experimentally in animals by a gene mutation.

The mortality rate associated with abdominal muscle deficiency syndromeis 20%.


Children with abdominal muscle deficiency syndromecan present with myriad renal, ureteral, and urethral abnormalities. Obstruction and/or upper urinary tract dilatation is not unusual in these children. The site of obstruction can vary from as high as the ureteropelvic junction to as low as the prostatic membranous urethra.

A lack of abdominal muscles leads to a poor cough mechanism, which, in turn, leads to increased pulmonary secretions. Weak abdominal muscles lead to constipation because of an inability to perform the Valsalva maneuver, which helps push the stool out of the rectum during defecation.


Ultrasound during pregnancy can sometimes see the abnormal development of the bladder and urinary tract. While the fetus grows, fluid develops in its abdomen, which stretches larger and larger. The fluid is reabsorbed before birth, so when born the infant has a sagging or wrinkled abdomen.

After birth, ultrasound and x-rays can determine what type of urinary tract abnormalities are present.

A renal scan is necessary after renal function stabilizes to evaluate renal function and drainage.

Contrast voiding cystourethrography (VCUG) should be performed.

  • VCUG is used to delineate the prostate-membranous urethra and the bladder and to detect the presence of an urachal remnant. In addition, the patient is evaluated for vesicoureteral reflux. Patients with vesicoureteral reflux are placed on antibiotic prophylaxis.
  • Upon evidence of upper tract dilatation or obstruction, a renal Hippuran or diethylenetriamine pentaacetic acid (DTPA) study should be performed.
  • Children with only megaureter, megacystis, and the prostatic abnormalities who have no evidence of obstruction or reflux can be managed conservatively with close observation.
  • VCUG is necessary to evaluate the bladder size. In addition, urethral stenosis must be ruled out immediately. The presence of a patent urachus is a hint that stenosis is present. The degree and extent of reflux are assessed with this study.


Unfortunately, abdominal muscle deficiency syndrome can have severe effects on the infant. 20% of babies die before birth, and 30% die from kidney problems with the first two years of life. In the remaining 50% of infants, there are varying degrees of urinary problems.

There is no cure for the syndrome, but repairs to the urinary tract can be made. Some surgeons are attempting to correct problems in the fetus before it is born, but this has had mixed results. Children prone to urinary tract infections are given preventive antibiotics. Surgery can be done to bring a boy's testes down into his scrotum.

Sometimes despite the best treatment, a child's kidneys will stop working (renal failure). The treatment for this is either dialysis or kidney transplantation.

Better surgical techniques, especially using laparoscopy, will make the necessary repair operations for a child with abdominal muscle deficiency syndrome less difficult. As more is learned about the syndrome, treatments can be improved and more children helped to survive.

NOTE: The above information is for processing purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.

DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.


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