Cinedefecography and Electromyography in the Diagnosis of Nonrelaxing Puborectalis Syndrome J. Marcio N. Jorge, M.D.,* Steven D. Wexner, M.D.,* Gow Ching Ger, M.D.* Virgilio D. Salanga, M.D.,-~ Juan J. Nogueras, M.D.,* David G. Jagelman, M.D.* From the Departments of* Colorectal Surgery and ~Neurology, Cleveland Clinic Florida, Fort Lauderdale, Florida

A prospective study was undertaken to assess the corre- lation between electromyography (EMG) and cinedefe- cography (CD) for the diagnosis of nonrelaxing puborec- talis syndrome (NRPR). Clinical criteria for NRPR in- cluded straining, incomplete evacuation, tenesmus, and the need for enemas, suppositories, or digitation. EMG criteria included failure to achieve a significant decrease in electrical activity of the puborectalis (PR) during attempted evacuation. CD criteria included either para- doxical contraction or failure of relaxation of the PR along with incomplete evacuation. In addition, other etiologies for incomplete evacuation, such as rectoanal intussusception or nonemptying rectocele, were ex- cluded by proctoscopy and defecography in all cases. One hundred twelve patients with constipation, 81 fe- males and 31 males, with a mean age of 59 (range, 12- 83) years were studied by routine office evaluation, CD, and EMG. Forty-two patients (37 percent) had evidence of NRPR on CD (rectal emptying: none, 24; incomplete, 18). Twenty-eight of these patients (67 percent) also had evidence of NRPR on EMG. EMG findings of NRPR were present in 12 of 70 patients (17 percent) with normal rectal emptying. Conversely, 14 of 72 patients (19 per- cent) with normal PR relaxation on EMG had an NRPR pattern on CD. The sensitivity and specificity for the EMG diagnosis of NRPR were 67 percent and 83 percent, and the positive and negative predictive values were 70 per- cent and 80 percent, respectively. Conversely, if EMG is considered as the ideal test for the diagnosis of NRPR, CD had a sensitivity of 70 percent, a specificity of 80 percent, and positive and negative predictive values of 66 percent and 82 percent, respectively. In summary, sensitivity, specificity, and predictive values of EMG and CD are suboptimal. Therefore, a combination of these two tests is suggested for the diagnosis of NRPR. [Key words: Para- doxical puborectalis contraction; Nonrelaxing puborec- tails syndrome; Anismus; Constipation; Defecography; Electromyography]

Jorge JMN, Wexner SD, Ger GC, Salanga VD, Nogueras JJ, Jagelman DG. Cinedefecography and electromyography

Poster presentation at the meeting of The American Society of Colon and Rectal Surgeons, San Francisco, California, June 7 to 12, 1992. Dr. Ger was a visiting colorectal surgeon from the Section of Colon and Rectal Surgery, Department of Surgery, National Defense Medical Center and Tri-Service General Hospital, Taipei, Taiwan, R.O.C. Address reprint requests to Dr. Wexner: 3000 Cypress Creek Road, Fort Lauderdale, Florida 33309.

in the diagnosis of nonrelaxing puborectalis syndrome. Dis Colon Rectum 1993;36:668-676.

T he plethora of appellations for the syndrome

of nonrelaxing puborectal is (NRPR) and, in

fact, the use of the term "syndrome" at all are

test imony to the current lack of unders tanding of

the pa thophys io logy of this condition. Wasserman 1

in 1964 descr ibed "a type of stenosis of the anorec-

tum caused by a spasm of a c o m p o n e n t of the

external ani sphincter muscle" and named it "pu-

borectalis syndrome." Since then, this condi t ion

has been designated by different observers as rectal

dyschezia, 2 paradoxical external anal sphincter

(EAS), 3 spastic pelvic floor syndrome, 4 anismus, 5

rectoanal dyssynergia, 6 abdomino-levator incoor-

dination,: immobi le per ineum, 8 and abdomino-

pelvic asynchronism. 9

Typical clinical manifestations of NRPR include

symptoms of obstructed evacuation, such as strain-

ing, tenesmus, and the sensation of incomple te

evacuation, as well as the frequent need for sup-

positories, enemas, or digitation. Although history

and physical examination can be suggestive of this

condition, 1~ the diagnosis is usually reached only

after anorectal physiology investigation. Specific

tests that have been helpful in the diagnosis of

NRPR include segmental colonic transit times, an-

orectal manometry, c inedefecography (CD), and

e lec t romyography (EMG), the latter two providing the best assessment of puborectal is (PR) muscle

function. ~1 EMG provides data on EAS and PR neu- romuscular activity, while CD allows measurement

of the anorectal angle, which is directly related to

sphincter muscle activity 12' 13 and also demonstrates

the efficacy of rectal emptying. However, each of these tests has its own limita-

tions. Voluntary contract ion of the pelvic f loor due to embarrassment may simulate a functional dis-

668

Vol. 36, No. 7

order o n CD, 4 Likewise, inability to relax the sphincter may occur during pushing as a response to fear or pain during the electromyographic as- sessment. ~4 These factors could cause false-positive findings of NRPR in patients without symptoms of obstructed evacuation. Therefore, the aim of this study was to prospectively assess the roles of EMG and CD in the diagnosis of NRPR in patients with symptoms of obstructed evacuation.

MATERIALS AND METHODS

A prospective evaluation of all patients with idi- opathic chronic constipation associated with symp- toms of obstructed evacuation was undertaken be- tween July 1989 and October 1991. All patients underwent an extensive bowel function survey, office examination, concentric-needle EMG, and CD.

NONRELAXING PUBORECTALIS 6 6 9

activity), and pushing (attempted evacuation). This technique is described in more detail else- where ~5. ~6

A normal study was defined as the recruitment of an ample number of motor units with normal amplitude and duration (motor unit potentials; MUPs), while squeezing and coughing, and either electrical silence or a marked decrease in MUPs during pushing (Fig. 1). Failure to achieve a sig- nificant decrease in the electrical activity of the EAS/PR during attempted evacuation was consid- ered as a criterion for the EMG diagnosis of NRPR (Fig. 2).

O f f i c e E v a l u a t i o n

The extensive bowel function survey was com- pleted by the patient with the assistance of one of the department nurses. Particular attention was paid to frequency and completeness of evacuation and to methods of assistance necessary for elimi- nation. Symptoms suggestive of NRPR included difficult, prolonged, or incomplete evacuation re- sponsive to enemas, suppositories, or digitation in the absence of anatomic causes of pelvic outlet obstruction. Physical examination focused upon finding causes for outlet obstruction, including rectocele or intussusception. Standard evaluation included digital examination and proctosigmoid- oscopy.

E M G

All patients were given a single disposable phos- phate enema prior to the examination. They were positioned in the left lateral decubitus position with maximum flexion of their knees. A bipolar, disposable, concentric-needle electrode Teca Type DC75 (Teca, Pleasantville, NY) was used for test- ing. This electrode has a diameter of 0.64 mm, a length of 75 mm, and a recording area of 0.07 m m 2.

The needle electrode was connected to a Nicolet Viking II EMG System (Nicolet, Madison, WI).

The EAS muscle halves were independently ex- amined both at rest and during activity. Activity consisted of squeezing (prevention of bowel evac- uation), coughing (to evaluate reflex sphincteric

CD

Patients had a disposable phosphate Fleet | enema (CB Fleet, Lynchburg, VA) prior to the test. With the patient in the left lateral position, barium instillation (50 ml) and air insufflation were carried out to outline the rectal mucosa): ' 18 A caulking

Pos Wave~ Rtcrui~m~n~ M~p~s F i b s . . . . . F ~ r e , F a t l e r n , , ML~P am~ . . . . Faseics : Remark MUP dur O t h e r N o r m a l P o l y p h ~ s i o s

50 uU FOOT SNITCH STRTUS: HOLD Imual TRIG:mBNiluVi' 10 ms PUSH

Pos N i v e s R l ~ r u i ~ m e n t ~lPJs F i b s . . . . . F i r e . P a S t e r n . . . . MUP am~ . . . . F a s e i c s : Remark NUP dur Q ~ h e r N o r m a l P o l y p h a s i c s

Figure 1. A normal EMG study showing adequate recruit- ment of MUPs with normal amplitude and duration during squeeze (top), decreased activity at rest (middle), and a further decrease during push (bottom).

670

50 ug FOOT SRITCHSTRTUS: HOLD~-TRIG:mm~Iu~ 10 ms REST

Pos Waves 0-I+ Recruitment MUPSs FFbs , . 0 -1+ , , F~ re .Pa t t e rn . . . . MUP am$ . . . .

F a s o ~ s : Remark MUP dur Other BRP Normal Polgpha~ios

Figure 2. The EMG pattern in a patient with NRPR dem- onstrates adequate recruitment of MUPs with normal am- plitude and duration during squeeze (top) and decreased activity at rest (middle). However, there is paradoxically increased activity during push (bottom).

gun injector was then used to introduce the thick barium paste (Anatrast~"; E-Z-EM, Westbury, NY) of a consistency similar to stool. Usually all 250 cc

JORGE ET AL Dis Colon Rectum, July 1993

(500 g) was introduced unless the patient experi- enced rectal fullness prior to that point. Injection was continued as the injector was withdrawn in order to outline the anal canal. The x-ray table was tilted upright 90 ~ and the patient was seated on a water-filled commode (Sunburst, Ladson, SC). Lat- eral films of the pelvis were taken at rest and during both squeeze and push. A normal evacuation se- quence is illustrated in Figure 3. The patient was then asked to evacuate, and the dynamics of defe- cation were recorded on a videocassette tape using a high-resolution VHS recorder (Panasonic, New York, NY). This technique is described in more detail elsewhere, z9 zl

Cinedefecographic criteria of NRPR included paradoxical contraction of the PR, nonrelaxation of the PR, and incomplete prolonged evacuation in the absence of other potentially causative pelvic etiology. In this latter category were included large nonemptying rectoceles and intussusception. Ex- amples of NRPR are shown in Figures 4 to 7.

RESULTS

One hundred twelve patients with constipation, 81 females and 31 males, with a mean age of 59 (range, 12-83) years underwent evaluation. Fifty- four patients (48 percent) had CD and/or EMG evidence of NRPR (Fig. 8). Twenty-one (19 per- cent) had another pelvic cause for the obstructed evacuation symptoms, including rectocele in 10 (9 percent), rectoanal intussusception in eight (7 per- cent), and enterocele in three patients (3 percent). The remaining 37 patients (33 percent) had normal evacuation dynamics.

Figure 3. Normal pelvic floor dynamics. R = rest; S = squeeze; P = push.

Vol. 36, No. 7 NONRELAXING PUBORECTALIS 671

Figure 4. Complete NRPR. Note an identical anorectal angle at rest (R), during squeeze (S), and during push (P).

Figure 5. Despite a small increase in the anorectal angle between rest (R) and push (P), the angle is still too acute to permit evacuation. An overly capacious rectum is also noted. S = squeeze.

Figure 6. Despite a small increase in the anorectal angle between rest (R) and push (P), the angle is still too acute to permit evacuation. Note that the PR impression remains quite prominent. S -- squeeze.

672 JORGE ET AL Dis Colon Rectum, July 1993

NONRELAXING PUBORECTAUS SYNDROME (N=112)

Figure 7. Postevacuation view demonstrates complete nonemptying rectum due to a persistently closed anorectal angle. Note the overly capacious rectum,

Cinedefecography EMG diagnosis diagnosis N=42 N=40 14~%) ~ 1 2

0%)

28 (6~0/o) 28 ) ~ (70% [] Normal EMG [] Normal puborectalis relaxation on cinedefecography

Figure 9. The comparison between CD and EMG in the diagnosis of NRPR.

Hypothesis II: EMG is the Ideal Test for the Diagnosis of NRPR

Forty patients (37 percent) had EMG evidence of NRPR. Twenty-eight (70 percent) of these pa- tients had concomitant evidence of NRPR on CD, whereas 12 (30 percent) had normal rectal emp- tying and the absence of any other finding sugges- tive of NRPR on CD. Conversely, of the 72 patients (64 percent) who had normal PR relaxation on EMG, 14 (19 percent) had CD evidence of NRPR (Fig. 9). Consequently, CD had a sensitivity of 70 percent, a specificity of 80 percent, a positive pre- dictive value of 66 percent, and a negative predic- tive value of 82 percent.

Figure 8. The results in 112 constipated patients.

Hypothesis I: CD is the Ideal Test for the Diagnosis of NRPR

Forty-two patients (37 percent) had evidence of NRPR on CD. Twenty-four patients were unable to evacuate any of the rectal contents, and 18 patients had incomplete and prolonged evacuation. Twenty-eight (67 percent) of these patients had EMG evidence of NRPR, whereas 14 (33 percent) had normal PR relaxation on EMG (Fig. 9). Con- versely, of the 70 patients (63 percent) with normal rectal emptying on CD, 12 (17 percent) had para- doxical PR during attempted evacuation on EMG. Therefore, EMG had a sensitivity of 67 percent, a specificity of 83 percent, a positive predictive value of 70 percent, and a negative predictive value of 80 percent.

DISCUSSION

NRPR is a complex and poorly understood entity characterized by contraction rather than relaxation of the pelvic floor muscles. Johansson and co- workers = have demonstrated that this paradoxical sphincter reaction occurs simultaneously in the EAS and PR muscles, despite the differences in their innervation.

The etiology of this dysfunction remains ob- scure, although several theories have been pro- posed. Kerremans 23 in 1969 suggested that the paradoxical contraction of the striated muscles could be a reflex activity or could be due to vol- untary suppression of the normal inhibitory proc- ess. Mathers eta/ . 24 conceded that this syndrome may represent a muscular dystonia of the pelvic floor and sphincteric apparatus, like that seen in Parkinson's disease. Abuse of cathartics and abnor- malities of the sympathetic nerve supply to the

Vol. 36, No. 7

rectum have also been reported. 1 Local inflamma- tory conditions, hypertrophy of the PR, and partial denervation of the pelvic floor have also been cited as possible causes, z5 Other authors have suggested that patients with outlet obstruction have a gener- alized pelvic floor disorder. 26 It is also possible that psychologic factors play a role. 4 Bartolo and co-workers 27 defined the syndrome as a behavioral disorder with lack of coordinated relaxation of the striated anal sphincters during defecation. This the- ory is supported by the improvement in NRPR noted after yoga 28' 29 or b iofeedback9 35

Failure to relax the PR has been cited as an important etiologic factor in constipation, espe- cially in obstructed defectation. 4'5'36-4~ Bartolo 41 reported that 53 percent of 98 patients with slow transit could not evacuate contrast during defecog- raphy because of the inability to relax their pelvic floor musculature and open the anorectal angle. Although NRPR and colonic inertia may coexist, neither the exact relationship between the two nor the incidence of either one are known, Approxi- mately 10 percent of patients with severe intracta- ble chronic constipation seen in a tertiary referral center underwent colectomy for colonic inertia. 4z In a series of 180 constipated patients reported by Wexner and co-workers, 43 NRPR was found twice as often as colonic inertia: 33 percent vs . 17 per- cent, respectively.

Paradoxical contraction of the EAS and PR has been reported to be easily palpated by routine examination during straining. 1~ However, the pa- tient's embarrassment may contribute to false-pos- itive results. Although the physical examination may be suggestive of paradoxical "reaction," the diagnosis of the syndrome requires a colorectal physiologic evaluation .4, 43

Although segmental colonic transit time may suggest the diagnosis by demonstrating an outlet obstruction pattern, it is not a specific t e s t . 44-5~

Kuijpers and Bleijenberg 4 reported rectal retention of markers in 9 of 12 patients (75 percent) with cinedefecographic diagnosis of NRPR. In a subse- quent study, Kuijpers and associates g5 noted an outlet obstruction pattern in 92 percent of 24 pa- tients. In 10 of 12 patients with normal total colonic transit, there was a rectosigmoid delay. In 12 pa- tients with delayed total colonic transit, the seg- mental transit evaluation demonstrated isolated rectosigmoid delay in five, rectosigmoid and left colonic delay in three, and rectosigmoid and left

NONRELAXING PUBORECTALIS 673

and right colonic delay in four patients. Therefore, in patients with pancolonic delay, rectosigmoid retention was always present, and, in all patients with right colonic delay, left colonic delay was noted. This suggested that increased transit time may be due to retrograde filling: when obstruction becomes more severe, more markers will be re- tained for a longer period of time and more seg- ments will become involved because of retrograde filling. Miller and co-workers n studied 24 patients with intractable constipation, 132 with slow co- Ionic transit, and 11 with normal transit. They found no differences in anorectal function as as- sessed by CD, EMG, and anorectal manometry. Therefore, they concluded that slow transit is not secondary to any abnormality in anorectal function and more likely represents a primary disorder of colonic motility. Other authors have also made sharp delineations between colonic inertia and NRPR.32, 42, 45

Barnes and Lennard Jones 51 in 1985 developed a balloon model for the investigation of disorders of defecation. They observed that almost all normal subjects could expel a balloon that contained 50 ml of water, but severely constipated patients were unable to do so. Jones and co-workers 37 found that 18 of 22 patients with constipation and NRPR could not expel the balloon; the remaining four had a normal expulsion pattern. Furthermore, although colectomy for colonic inertia is associated with success rates in excess of 90 percent, colectomy for colonic inertia coexistent with NRPR has a success rate of less than 60 percent. 42' 52, 53

EMG and CD are the most commonly used tests for the diagnosis of NRPR. EMG has been consid- ered as a direct and simple test to demonstrate pelvic floor activity, i~ In fact, it can be less confus- ing than measurement of the anorectal angle, g~ 21 Jones and co-workers 3v found EMG evidence of paradoxical PR contraction in 38 of 50 constipated patients (76 percent), in 10 of 21 patients with idiopathic perineal pain (48 percent), and in four of eight patients with solitary rectal ulcer syndrome (50 percent). These authors concluded that para- doxical contraction of the PR is not a specific finding and is not the sole cause of constipation in patients with anismus. They questioned the value of EMG in the diagnosis of NRPR, citing the un- physiologic clinical environment as being poten- tially responsible for many false-positive results. Accordingly, Wexner and co-workers, 54 in a series

674 JORGE

of 60 patients with chronic intractable rectal pain, found NRPR in 62 percent of patients. Miller and associates I1 recently performed simultaneous CD, EMG, and manometry to evaluate anorectal func- tion in 24 patients with intractable constipation. They found no correlation between EMG evidence of anismus and either the ability of the patient to evacuate the rectum or the patient's symptoms of obstructed defecation. They concluded that it is inappropriate to classify patients as having outlet obstruction based only on EMG changes; instead these changes should be associated with cinede- fecographic evidence of NRPR.

In the current study, 12 of 70 patients who had normal rectal emptying during CD had a paradox- ical sphincter contraction on EMG. It has been suggested that the inability to relax the sphincters during evacuation may be a response to fear or the pain caused by the electrodes. Johansson and co- workers 1~ performed a comparative study with con- ventional concentric-needle electrodes and mon- opolar silver wire electrodes in 10 patients with paradoxical sphincter reaction. All 10 patients had paradoxical sphincter reaction independent of the electrode used. They concluded that paradoxical EAS and PR contraction seems not to be a reaction caused by pain. This was an important finding because most anorectal physiologic investi- gators use standard concentric-needle elec- trodes.4, 15, 16, 37, 55, 56

The value of CD in the diagnosis of NRPR has been emphasized by several authors. Kuijpers and Bleijenberg 4 observed that, in patients who were unable to excrete barium, the anorectal angle did not increase during evacuation but remained at 90 ~ They considered that, since this angle is a measure of the activity of the pelvic floor muscu- lature, it indicated that the pelvic floor remained contracted during straining and prevented evacua- tion. However, these patients can not be defined as a group based upon static measurements of the anorectal angle. The videotape recording provides additional information based on anorectal ana- tomic configuration. The most common of these radiologic signs is the prominent and persistent PR impression during attempts to evacuate the rec- tum. 2~ Other findings during CD that may be suggestive of NRPR include an overly capacious rectum, a long and persistently closed anal canal, ballooning of the rectum, and the presence of compensatory anterior and posterior rectoceles.

E T AL Dis Colon Rectum, July 1993

These findings of NRPR can be associated with nonemptying, incomplete emptying, or even total evacuation after a prolonged and difficult attempt. 2~ More detailed techniques to quantitate rectal emp- tying have been described. 5~' 58 The balloon proc- togram has also been used to document the ab- sence of change in the anorectal angle during evacuation along with the inability to expel the balloon.43, 59, 60 However, conventional defecogra- phy not only provides more reliable measurement of the anorectal angle but also provides better anorectal anatomic configuration. 21

Fourteen of 72 patients (19 percent) with normal PR relaxation on EMG had evidence of NRPR on CD. It has been suggested that artifactitiously false- positive results may ensue from the patient's fear of evacuating in front of other people. 4 To refute the skepticism, however, are data from Kuijpers and associates. 25 They found that 92 percent of patients with defecographic evidence of NRPR also had outlet obstruction on segmental colonic transit times. Thus, this strong positive correlation be- tween transit studies and CD underscores the ac- curacy of the latter investigation. Furthermore, if embarrassment is truly preventing evacuation, the patient can try to evacuate in the privacy of a bathroom followed by fluoroscopic reassessment of the evacuated rectum.

C O N C L U S I O N

Sensitivity, specificity, and predictive values of both EMG and CD are suboptimal. NRPR reaction is probably best assessed by CD, as this technique also demonstrates the exact dynamics of evacua- tion. Because of this ability of CD to detect asso- ciated abnormalities, it is probably the superior test. However, the diagnosis of NRPR should not be based upon its being found during one or even both of the aforementioned tests. The diagnosis of NRPR should be given only to patients whose clin- ical symptoms of pelvic outlet obstruction are sup- ported by physiologic confirmation of their signif- icance.

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Vol. 36, No. 7

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