Surgery in oculopharyngeal muscular dystrophy

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  • Surgery in Oculopharyngeal Muscular Dystrophy

    Andre? Duranceau, MD, Montreal, Canada

    Marcelle D. Forand, BSc, Montreal, Canada

    Jean P. Fauteux, MD, Montreal, Canada

    The oculopharyngeal muscular dystrophy syndrome wa3 transmitted in an autosomal dominant fashion through 11 generations of French Canadians. In Barbeaus study of more than 160 patients, the mode of presentation was palpebral ptosis and orophar- yngeal dysphagia. Because the nature of the disorder is unknown, the patients were often diagnosed as having cervical esophageal cancer, and they fre- quently died of starvation or from repetitive aspira- tion [2,21.

    Oropharyngeal dysphagia is usually progressive and starts at about age 40 years. This dysphagia is responsible for repetitive pharyngooral and phar- yngonasal regurgitations. Alimentation time is in- creased and weight loss frequently occurs. In the advanced stage of the disease laryngeal, tracheo- hrcmchial and pulmonary symptoms predominate, resulting from the aspiration of food at mealtime and of saliva during t.he night [9].

    A number of esophageal motility studies were performed in patients with this disorder, with various results and interpretations [.j-IO]. Poor contraction

    of i.he pharynx with normal or abnormal function of

    the upper esophageal sphincter was described. Sur- gery for oropharyngeal dysphagia related to this disorder was also reported in several cases [3,~1,7,N,ll.I~]. Th e condition of most patients is

    improved by cricopharyngeal myotomy.

    Ihe purposes of this study are (1) to document dysfunction of the pharynx and upper esophageal sphincter in patients with oculopharyngeal muscular dys,trophy, and (L) to document the effects of surgery on the function of these areas.

    From the Department of Surgery, Universit6 de MontrBal, HBtel-Dieu de Monk&l, Quebec, Canada.

    Reprint requests should be addressed to Andre Duranceau, MD, Depart- ment of Surgery, HBtel-Dieu de Montr6al3840, St-Urbain, Mont&al. Qukbec H2VI IT& Canada.

    Presented at the 20th Annual Meeting of the Society for Surgery of the Alimentary Tract, New Orleans, Louisiana, May 22-23, 1979.

    Material and Methods

    Motor function of the pharynx and upper esophageal sphincter was studied in 15 patients with oculopharyngeal muscular dystrophy and in 15 asymptomatic volunteers. The results in both groups were initially compared, and then the oculopharyngeal muscular dystrophy group was used as its own control before and after cricopharyngeal myotomy. The oculopharyngeal muscular dystrophy group included six men and nine women aged 50 to 74 years (mean 63.9). The control group included 10 men and 5 women aged 20 to 41 years (mean 26.6).

    Manometric Evaluation. Esophageal motility studies were performed using a 55 cm triple lumen polyethylene tube (USC1 no. 1100). All three lumens had an internal diameter of 20.32 mm (0.08 inch) and ended in a lateral position 5 cm from each other with an orientation of the orifice at 120 one from each other.

    The lumen recording pharyngeal function was water- filled but not perfused. When recording the upper esoph- ageal sphincter area the lumen was perfused at a rate of 7.5 cc/min and pressures were recorded in an anteroposterior position. A Harvard pump (model 954) was used for per- fusion.

    Pressures from the columns of water within the lumen were transmitted to external transducers (Hewlett/Pack- ard model 1280) and recorded on a four channel physiog- raph (Hewlett/Packard model 7754A). Pressures were re- corded in mm Hg with atmospheric pressure as the 0 ref- erence point. Manometric calibration was performed before and after each recording, and no medication was given before any of the studies.

    Manometric Interpretation. Once the pharyngeal and upper esophageal sphincter areas were located manome- trically, they were studied for 10 consecutive swallows. Pharyngeal function was examined for the peak, the du- ration and the frequency of its contraction. The upper esophageal sphincter area was studied for its resting and contracting pressure, relaxation, relaxation time and coordination. Relaxation was interpreted as normal when maximal relaxation was within 5 mm Hg of resting cervical esophageal pressure. Total relaxation time was recorded. The upper esophageal sphincter was considered coordi-

    Volume 139. January 1980 33

  • Duranceau et al

    Figure 1. Finction of the pharynx. OPMD = oculopharyngeat muscular dystrophy.

    nated .with pharyngeal contraction when peak pharyngeal contraction corresponded to the nadir of upper esophageal sphincter relaxation and when upper esophageal sphincter relaxation entirely encompassed the time of pharyngeal contraction. A statistical analysis of the variables studied by two observers were computed and compared with the control group using Students t test for unpaired values. The variables observed in the patients with oculopharyn- geal muscular dystrophy before and after surgery were computed and averaged using Students t test for paired values. P

  • Oculopharyngeal Muscular Dystrophy

    DS

    UES 40

    Figure 4. Function of the upper esophageal sphincter (case 13). As seen in the recording, repetitive relaxations rep- resent attempts of the powerless pharynx to push the bolus through the sphincter area. Only one of the three waves observed in the cervical esophagus is propulsive. UES = upper esophageal sphincter; WS = wet swallow.

    is illustrated in Figure 2. All parameters of pharyn- geal function differed significantly in the two groups and remained unaffected by cricopharyngeal myot- omy. Peak contraction pressure was 32.1 f 2.1 mm Hg in the control group but 5.0 f 1.1 mm Hg in the oculopharyngeal muscular dystrophy group (p

  • Duranceau eta1

    TABLE I Postoperative Results in Patients With Oculopharyngeal Muscular Dystrophy

    Follow- Symptom Weight Regurgitation UP

    Case Age (yr) Duration Loss Dysphagia Pharyngooral Pharyngonasal Aspiration Time No. &Sex (yr) (kg[poundsl) Preop Postop Preop Postop Preop Postop Preop Postop (mo)

    1 65M 12 0 ++++ ++ ++ + + + + + 23 2 61M 10 0 ++++ 0 ++ 0 +++ 0 ++++ 0 30 3 71F 10 13.6(30) ++++ 0 ++ 0 ++ 0 ++ + 14 4 58F 11 6.8(15) ++++ 0 + 0 + 0 ++++ + 14 5 50F 6 :.8(15) ++++ ++ ++ 0 ++ 0 ++++ 0 32 6 54F 5 ++++ + + 0 ++ 0 ++++ 0 13 7 64M 4 18.2(40) ++++ 0 +++ 0 +++ 0 ++++ 0 29 8 74F 20 0 ++++ 0 + 0 0 0 ++++ 0 22 9 69F 25 9.1(20) ++++ 0 ++ 0 ++ 0 ++++ + 21 10 52F 5 0 ++t+ 0 0 0 t 0 + 0 21 11 68M 13 0 ++++ 0 0 0 t++ 0 ++++ 0 25 12 86M 13 13.6(30) +t++ 0 ++ 0 ++ 0 ++++ 0 19 13 74M 15 18.2(40) +ttt ++ +t 0 ++ 0 ++++ 0 20 14 74F 2 ++++ + + 0 t 0 t+t+ 0 42 15 59F 15

    :.8(15) ++tt 0 + 0 ++ 0 ++ + 9

    0 = none; -I- = rare; -I+ = moderate; -H-i-i- = severe; preop = preoperative; postop = postoperative.

    After surgery relaxation time was brought back toward normal with values of 1.87 f 0.158 seconds, which differed significantly from the preoperative values (p

  • Oculopharyngeal Muscular Dystrophy

    patient occasionally has pharyngonasal regurgitation during meals. Episodes of aspiration at mealtime, during sleep or during motility studies disappeared completely after surgery in 10 of 15 patients. Two patient,s continue to have episodes of aspiration during meals, and three patients have occasional episodes of salivary aspiration during the night. The radiologic findings before and after surgery are shown in Figure 6.

    Comments

    ihe natural history of oculopharyngeal muscular dy:,trophy was initially described in 1915 by Taylor I13], who realized that the condition eventually leads to ,Seath by starvation or aspiration if the patient reaches the fifth decade of life. The largest concen- t ration of patients with this disorder is in the prov- ince c)t Que bet [I ,2]. Oculopharyngeal muscular dystrophy also occurs in patients of other ethnic or- igins 11 -.I, IO].

    The clinical presentation of the patient with ocu- lopharyngeal muscular dystrophy is usually charac- t er ized by dysphagia and ptosis of the eyelids. These syrnpt.oms begin around age 40 years and progress slo*;vly. Bilateral progressive ptosis is usually the first symptom, hut dysphagia may appear before the ptclsis. The oropharyngeal dysphagia is initially ob- served with dry solids (vegetables, fruit and meats), and after several years the patient notices dysphagia with liquids. In more than half of our initial group this dysphagia increased when the patient felt, anx- ious or drank cold liquids. Pharyngooral and phar- yngonasnl regurgitations then appear, signaling the incompetence of the velopharyngeal muscles. These symptoms emharass t.he patient, and he often stops eating in public or even with his family. Alimentation time increases significantly and weight loss ensues. The abnormalities in transport through the pharynx and upper esophageal sphincter lead to repetitive bouts of aspiration. Tracheobronchial symptoms are ini-:ially intermit~tent, although in severe cases tra- cheal soilage occurs at every meal. Aspiration also occ urs at night: stasis of food particles and saliva in t hr pharynx and larynx during sleep leads to chronic aspiration. Aspiration pneumonia was observed in Lo~r of our patients, all of whom had severe symp- tor?s. This syndrome has been identified through 11 generut.ions of French Canadians, both male and fe- male II-~.1,.3,10, IYJ. All patients are traceable t,o the same two ancestors, and the children are affected in half of thp cases. Oculopharyngeal muscular dys- trophy is a purely autosomal dominant trait.

    Motility studies have been performed in patients with oculopharyngeal muscular dystrophy using

    various techniques, with great differences in the in- terpretation of results. In some studies the tracings are interpreted as normal [4,5,Y]. Marked weakness of the striated muscle in the upper esophagus is de- scribed hy some. Other studies report weakness of pharyngeall contraction, low cricopharyngeal basal pressure and normal function of the upper esopha- geal sphincter [ 7). Differences in recording t.ech- niques probably explain the differences in reported observations. In 1968 Murphy and 1)rachman 151 reported motility studies performed in three patients. In two of those patients pharyngeal trmct ion was not mentioned and upper esophageal sphincter function was considered normal. The author ~~~nc~lucles that only the pharynx, the hypopharynx and t,he upper third of the esophagus were aflect.ed. Lewis [s] Bender IX] and Roberts and Bamfort h IIo] reported complete motor paralysis of the pharynx. In their studies pressures at the level of the upper esophageal sphincter were considered normal Or tlec,reased. Sphincter contraction was interpreted as lweak or absent. Bender noted severe relaxat.ion and coordi- nation problems in one patient.

    Our study was designed to accurately measure motor function of both the pharynx and the proximal esophageal sphincter. In patients with oculophar- yngeal muscular dystrophy, peak pharyngeal con- traction was significantly weaker than in the control group. These contractions were of longer duration and always repetitive. Because of the veloc.ity and amplitude of movement in the pharynx, the non- perfused system used in our study I~tlderest,imates these pressure abnormalities.

    Manometric recording 01 upper esophageal sphincter function was performed with a rapid per- fusion technique. When compared with I he control group, upper esophageal sphincter function was normal in the oculopharyngeal muscular dystrophy group. Resting pressure, contracting pressure, coordination and relaxation did not differ signifi- cantly in the two groups. Relaxation time was longer in the oculopharyngeal muscular dystrophy group than in the normal group. Theoretically a clear pharyngeal pressure signal is necessary to initiate relaxation of the upper esophageal sphinct*er. The results in this study show that even a weak pharyn- geal contraction causes normal relaxation of the upper esophageal sphincter. lhe patient,s with ocu- lopharyngeal dystrophy had difficulty clearing the pharynx and larynx of their cont.ents arid they did so by repeated swallowing. Function of thr upper esophageal1 sphincter was normal, hut transport through th.e upper sphincter zone was altered becbause of t,he powerless pharynx.

    Volwne 139. January 1990 37

  • Duranceau et al

    Cricopharyngeal myotomy is known to decrease resting sphincteric pressures in patients with Zenk- ers diverticula [14]. Surgery on the upper esophageal sphincter has been reported in a small number of patients with oculopharyngeal muscular dystrophy. Peterman et al [4] referred to one patient of French Canadian origin who underwent cricopharyngeal myotomy and obtained 10 months of complete relief of symptoms. Dysphagia recurred and a second my- otomy using a contralateral approach was performed with no significant benefit. In 1971 Montgomery and Lynch [22] reported on eight patients affected with the same condition. Every patient presented with severe dysphagia and underwent extensive myotomy of the proximal esophageal sphincter area. In their well illustrated paper the authors describe the sharp dissection of the muscularis from the mucosa of the cervical esophagus. The muscle is then cut transversely, proximally and distally and sutured anteriorly. The follow-up in these eight patients was 18 months to 4 years, and the results were uniformly excellent with complete relief of dysphagia. Aspira- tion disappeared clinically but radiologic studies continued to show contraction abnormalities of the palatal and hypopharyngeal musculature, together with retained secretions in the pyriform sinuses. In 1974 Nanson [II] reported on two patients of un- known ancestry with oculopharyngeal muscular dystrophy, both of whom were much improved by cricopharyngeal myotomy. Blakeley et al [15] de- scribed two cases of oculopharyngeal muscular dys- trophy with the typical clinical presentation. Both patients were completely cured of their symptoms by cricopharyngeal myotomy. Hurwitz et al [7] had one patient with oculopharyngeal muscular dystrophy who improved clinically after surgery as demon- strated by amelioration of symptoms and weight gain. In 1978 we reported our initial experience with 11 patients who underwent surgery for oropharyngeal dysphagia secondary to oculopharyngeal muscular dystrophy [3]. Eight of the 11 patients had excellent results and 3 were significantly improved. Bender [8] describes one patient with oculopharyngeal muscular dystrophy who underwent cricopharyngeal myotomy for dysphagia. Despite a weak and dilated hypo- pharynx, 6 weeks later the patient was improved clinically.

    The effects of operation on the upper sphincter and pharynx in patients with oculopharyngeal muscular dystrophy are poorly documented. Hurwitz et al [7] and Bender [8] report that upper esophageal function is unchanged after myotomy. In our 15 pa- tients pharyngeal function remained unchanged after extensive myotomy distal to the pharyngeal pouch: peak contraction pressure, contraction duration and

    the number of pharyngeal contractions were un- changed by the operation. However, resting and contracting pressures. of the upper esophageal sphincter were lowered by more than 50 percent. Clinically dysphagia, pharyngooral and pharyngo- nasal regurgitations and repetitive aspirations completely disappeared in the majority of patients. Relaxation time was significantly shortened toward normal by operation. The unchanged function of the pharynx suggests that improvement results from the lower resistance in the upper esophageal sphincter area which permits passage of the bolus propelled by the weakened pharynx.

    Clinically an abnormal temporal relation certainly exists between the weak pharyngeal contraction and the response of the upper esophageal sphincter. The manometric technique in our study probably does not allow full recording and interpretation of the abnormalities present in both the pharynx and upper esophageal sphincter. A study establishing a corre- lation between radiologic and manometric findings in these patients is needed.

    Summary

    Oculopharyngeal muscular dystrophy is an auto- somal dominant inherited condition seen mainly in patients of French Canadian origin. Fifteen patients with an established diagnosis of the disease were evaluated clinically, manometrically and radiologi- cally before and after cricopharyngeal myotomy. All patients presented with oropharyngeal dysphagia to solids and liquids, pharyngooral and pharyngonasal regurgitation, frequent aspiration at mealtime and chronic aspiration of saliva during the night. When compared with a control group, significant differ- ences were observed in the pressure, duration and frequency of pharyngeal contraction. Cricopharyn- geal myotomy did not alter pharyngeal function. At the level of the upper esophageal sphincter, resting and contraction pressure relaxation, relaxation time and coordination were examined. Relaxation time was the only significant abnormality observed be- tween patients with oculopharyngeal muscular dys- trophy and control subjects. Surgery significantly lowered the resting and contracting pressures of the sphincter. Relaxation time was brought toward normal. All patients symptoms were significantly improved by cricopharyngeal myotomy.

    References

    1. Barbeau A. The syndrome of hereditary late onset ptosis and dysphagia in French Canada. Wilhelm Erb Symposium, Dee 1, 1965 (Heidelberg). In: Kuhn E. Progressive muskeldys- trophie. myotonie. myasthenie. Berlin, Springer-Verlag. 1966.

    38 The American Journal of Surgery

  • Oculopharyngeal Muscular Dystrophy

    2 l3arbeau A. La myopathie oculaire au Canada franqais. Compte

    rendu ler Congr& International Neuro-GBnBtique et Neuro-

    Ophtalmologie. Basel, New York: S Karger, 1968, p 49-

    55 3. Duranceau A, Letendre J, Clermont RJ, LBvesque HP, Barbeau

    A. Oropharyngeal dysphagia in patients with oculopharyngeal

    muscular dystrophy. Can J Surg 1978;21:236-329.

    4. Peterman AF, Lillington GA, Jamplis RW. Progressive muscular

    dystrophy with ptosis and dysphagia. Arch Neurol 1964;

    10:52-55. 5. Murphy SF, Drachman DB. The oculopharyngeal syndrome.

    JAMA 1968:203:99-104. 6. Lewis I Late onset muscle dystrophy: oculopharyngoesopha-

    geal variety. Can Med Assoc J 1966;95:146-150.

    7. Hurwitz AL, Nelson JA, Haddad JK. Oropharyngeal dysphagia

    manometric and tine esophagraphic findings. Am J Dig Dis 1975;20:313-23.

    8. Bender MD. Esophageal manometry in oculopharyngeal dys-

    trophy Am J Gastroenterol 1976;62:215-21.

    9. Bray GM, Kaarso M, Ross RT. Ocular myopathy with dysphagia.

    Neurology 1965; 15678-84. 10. Roberts AH, Bamforth J. The pharynx and esophagus in ocular

    muscular dystrophy. Neurology 1968;18:645-52. 11. Nanson EM. Achalasia of cricopharyngeus muscle and pha-

    ryngeal diverticulum. NZ Med J 1974;520:41-48. 12. Montgomery WW, Lynch JP. Oculopharyngeal muscular dys-

    trophy treated by inferior constructor myotomy. Trans Am

    Acad Ophthalmol Otolaryngol 1971;75:986-93. 13. Taylor EW. Progressive vagus-glossopharyngeal paralysis with

    ptosis. A contribution to the group of family diseases. J Nerv Ment Dis 1915;42:129-39.

    14. Ellis FH. Shlegel JF, Lynch VP. Cricopharyngeal myotomy for

    pharyngoesophageal diverticulum. Ann Surg 1969;170: 340-49.

    15. Blakeley WR, Garety FJ, Smith DE. Section of the cricophar-

    yngeus muscle for dysphagia. Arch Surg 1968;96:745- 62.

    Discussion

    Dr. ttoseman (San IXego, CA): We have been interested in t lis at Scripps Memorial Hospital and have done about six myotomies in selected patients. We have found that the cintsesophagogram is a major determinant for select,ivity. It is also an caxcellent objective way to follow improvement because pressure measurements may be misleading, as they

    vary on conventional manometry. I wonder if the:se patients have had both clinical improvement and documented im- provement on cineesophagograms?

    Alfred Hurwitz (San