ORIGINAL ARTICLE

Cricopharyngeal Dilatation for the Long-term Treatmentof Dysphagia in Oculopharyngeal Muscular Dystrophy

Joseph G. Manjaly • Peter G. Vaughan-Shaw •

Oliver T. Dale • Susan Tyler • Jonathan C. R. Corlett •

Roger A. Frost

Received: 5 April 2011 / Accepted: 6 July 2011 / Published online: 30 July 2011

� Springer Science+Business Media, LLC 2011

Abstract Oculopharyngeal muscular dystrophy (OPMD)

is a rare autosomal dominant, progressive degenerative

muscle disorder featuring dysphagia with limited therapeutic

options. The aim of this study was to evaluate the safety and

efficacy of repeated endoscopic dilatation for OPMD over a

15-year period. All patients seen at our Regional Swallowing

Clinic with OPMD confirmed by genetic analysis were

included. Cricopharyngeal dilatation was performed as an

outpatient procedure using a wire-guided 18-mm (54 Fr)

Savary-Gilliard bougie with the patient under sedation.

Patients were offered repeat endoscopic dilatation when

symptoms recurred. Symptom severity prior to initial dila-

tation and at follow-up was evaluated using the Sydney

Swallow Questionnaire (SSQ). Nine patients (7 female, 2

male) were included for analysis. Median total treatment

period was 13 years (range = 3–15), median number of

dilatations per patient was 7.2 (range = 1–16), and median

interval between treatments was 15 months (range =

4.5–45). All patients recorded sustained symptom improve-

ment. Mean SSQ score (out of 1,700) was 1,108.11

(SD ± 272.85) prior to first dilatation and 297.78

(SD ± 189.14) at last follow-up, representing a 73%

decrease (95% CI = 52–94) in degree of dysphagia symp-

toms (paired t-test, P = 0.0001). All mean scores for indi-

vidual questions also showed significant improvement

(P \ 0.05). No adverse events were reported with all

patients maintaining oral feeding at last follow-up. Repeated

cricopharyngeal dilatation is a safe, effective, well-tolerated,

and long-lasting treatment for dysphagia in OPMD.

Keywords Dysphagia � Muscular dystrophy �Oesophageal dilatation � OPMD � Oculopharyngeal

muscular dystrophy � Deglutition � Deglutition disorders

Oculopharyngeal muscular dystrophy (OPMD) is a slowly

progressive degenerative muscle disorder characterised by

bilateral ptosis, dysphagia, and limb weakness. It is typi-

cally an autosomal dominant inherited condition with

symptoms first appearing beyond age 40 [1]. The disease

was first described in 1915 by Taylor [2] and is now known

to be due to pathological expansion in the PABPN1 gene

(formerly PABP2), with more than 99% of patients with a

severe OPMD-like phenotype showing an expansion in this

gene [3]. Whilst still a relatively rare disorder, the condi-

tion has been identified in more than 30 countries [1],

having been well-documented in the French-Canadian

population of Quebec where the incidence is estimated at

1:1,000.

The symptoms of dysphagia in OPMD tend to manifest

with increased time to eat meals and avoidance of dry and

solid foods. As the disease progresses, fluids may become

difficult to swallow and tongue weakness is observed [4].

Aspiration leading to pneumonia together with malnutri-

tion and weight loss forms the end stage of the disease. The

J. G. Manjaly � S. Tyler � J. C. R. Corlett � R. A. Frost

Departments of ENT and Radiology,

Salisbury NHS Foundation Trust, Salisbury, UK

J. G. Manjaly (&)

Department of ENT, Salisbury District Hospital,

Salisbury SP2 8BJ, Wiltshire, UK

e-mail: joemanjaly@doctors.org.uk

P. G. Vaughan-Shaw

Southampton University Hospitals NHS Trust,

Southampton, UK

O. T. Dale

Royal Berkshire NHS Foundation Trust, Reading, UK

123

Dysphagia (2012) 27:216–220

DOI 10.1007/s00455-011-9356-y

specific physical impairment observed at video fluoroscopy

includes reduced palatal mobility, impairment of gag reflex

leading to pooling of saliva, weak uncoordinated pharyn-

geal contractions, and incomplete upper oesophageal

sphincter relaxation due to weakness of the hypopharyn-

geal muscles [5, 6]. The cricopharyngeus muscle (upper

oesophageal sphincter) is often the most severely affected,

for reasons which are unknown, and is thus the target for

interventional treatment.

Therapeutic options for dysphagia in OPMD have so far

proved of limited efficacy. Cricopharyngeal myotomy has

been the most commonly used treatment. A number of

studies have shown improved swallowing in the majority of

patients undergoing this surgery [7–9]. However, the pro-

cedure is not repeatable and, in the long term, dysphagia

slowly recurs in many patients as myotomy fails to prevent

progressive degradation of the pharyngeal musculature

[10]. Additionally, the late onset of the disease means that

many patients are either medically unsuitable for surgery or

reluctant to accept the risk involved. As a result, many

patients still experience reduced life span with considerable

morbidity toward the end of life, requiring percutaneous

endoscopic gastrostomy (PEG) insertion to maintain

nutrition and prevent aspiration.

Endoscopic dilatation of the upper oesophageal sphinc-

ter is a technique that has traditionally been used in patients

with dysphagia. Evidence for its use in OPMD is very

limited, however, and to date, no long-term data exist for

the use of this intervention as a means of controlling dys-

phagia and preventing progression to aspiration and enteral

feeding. Indeed, no data exist at all for its use as a repeated,

rather than one-time, procedure. Reviews of the disease

highlight the need for further studies [11, 12].

In this study, we evaluate the use of periodic repeat

bougie dilatations of the cricopharyngeus muscle over

several years to manage dysphagia in OPMD.

Methods

Between 1995 and 2007, 11 patients within the region of

Salisbury District Hospital were diagnosed with OPMD,

confirmed by genetic analysis of a venous blood sample

showing GCG expansion in the PABP2 gene. Two patients

have not suffered with dysphagia that required treatment.

The remaining nine patients were treated at Salisbury

District Hospital Swallowing Clinic.

Following history and clinical examination, functional

assessment was made by video fluoroscopy. Multiple

swallows were observed using liquid and thickened con-

trast. The oral and pharyngeal phases of deglutition were

recorded in the lateral and anteroposterior (AP) projections,

followed by oblique images of the whole oesophagus with

the patient in erect and supine positions. Speech and lan-

guage therapist input was also provided, with specific focus

on swallowing technique and dietary modification. All

patients demonstrated ocular muscle involvement.

Cricopharyngeal dilatation was performed as an outpa-

tient procedure with all patients under sedation. A gas-

troscopy was performed and a stiff wire (Premier

Endoscopy SM6W) was passed through the biopsy channel

into the stomach. The scope was removed and the wire was

used to guide an 18-mm (54 Fr)-diameter Savary-Gilliard

dilating bougie through the cricopharyngeal segment. This

is a bougie that tapers from 5 to 18 mm and one single

passage of the bougie safely results in an 18-mm dilatation

without the need for multiple passes. The bougie was

passed to a minimum of 20 cm from the incisors in all

cases to ensure that the cricopharyngeus was passed. No

fluoroscopy was used. This technique has been used in our

unit for many thousands of dilatations. We believe this

technique to be quicker, safer, less painful, and cheaper

than disposable balloon dilators. All patients tolerated this

size of dilator without complication.

No patients refused treatment. Patients were then ini-

tially followed up for clinical assessment at 1-, 4-, and

12-months in the Swallowing Clinic by the same clinicians.

Further follow-up was then arranged by patient request if

symptoms recur. Repeat video fluoroscopy, as described

above, was performed 1 month after the first dilatation in

the early part of the series to assess response, but thereafter

it was not routinely used at follow-up. All patients were

given clear instructions on how to contact the department

when they felt symptoms starting to recur. If confirmation

of sphincter narrowing was required by the clinician, repeat

video fluoroscopy would then be undertaken. In most cases,

clinical assessment alone was sufficient and a repeat dila-

tation would then be scheduled within 2 weeks.

Severity of dysphagia symptoms prior to initial dilata-

tion was retrospectively evaluated using the Sydney

Swallow Questionnaire (SSQ) [13], which patients com-

pleted at their most recent follow-up. This is a 17-question

self-report inventory for the assessment of oropharyngeal

dysphagia. It has been tested for reliability and validity in

patients with structural cricopharyngeal disorder. Sixteen

of the 17 questions use a 100-mm analogue scale by which

patients grade symptoms related to swallowing function

and quality of life. A total score out of 1,700 is obtained.

None of our nine patients was cognitively impaired and all

completed the questionnaire independently. Additional

information on preintervention morbidity, weight, and

adverse events was sought by examination of patients’

notes and corroborated with patients during interview.

Some time after the most recent dilatation, patients

were asked to recomplete the SSQ during a dedicated data

collection clinic. One patient, whose last and only dilatation

J. G. Manjaly et al.: Dysphagia in Oculopharyngeal Muscular Dystrophy 217

123

was in July 2001, was interviewed 114 months after the

procedure. Another patient, whose last dilatation was in

April 2009, was interviewed 21 months after the proce-

dure. The remaining patients were interviewed an average

of 4.57 months after the most recent dilatation (range =

3–8 months).

All data were stored in Microsoft ExcelTM (Microsoft

Corp., Redmond, WA, USA) and analysed using Microsoft

Excel and PrismTM 3.03 (GraphPad Software Inc., La Jolla,

CA, USA). The paired two-tailed t-test was used to

determine statistical significance between pre- and post-

treatment scores.

The South West 1 Research Ethics Committee, UK, was

approached for approval to perform this study. They

deemed that this study did not require formal ethics

approval as it was a retrospective study of a technique and

indication that has been established in regular clinical use,

for many years, in our institution.

Results

The series consisted of seven women and two men

(Table 1). In all cases, video fluoroscopy performed prior

to intervention showed failure of relaxation of the crico-

pharyngeal segment. There was varying efficiency in

stripping contrast from the valleculae and pyriform fossae.

The oesophagus appeared normal in all cases with normal

motility. In all cases, when video fluoroscopy was per-

formed 1 month after dilatation, there was objective

improvement in the width of the cricopharyngeal segment.

Median age at the time of first dilatation was 58 years

(range = 50–77 years). The mean duration of dysphagia

symptoms prior to first dilatation was 5.66 years (SD ±

3.20) (range = 1–10 years). Median follow-up from the

time of first dilatation was 13 years (range = 3–15 years).

In this time period, the median number of dilatations per-

formed per patient was 7.2 (range = 1–16). One patient,

who was 71 years old at the time of first dilatation and had

experienced symptoms for the previous 10 years, has not

experienced worsening of symptoms for the last 9.5 years

and has not yet requested a second dilatation. For the other

eight patients, the mean interval between dilatations was

18.8 months (SD ± 13.6) (range = 4.5–45 months).

Five patients gained weight over the course of the

treatment period (mean ± SD = 9.2 ± 4.97 kg). Three

patients maintained their preintervention weight. 1 patient

lost 6 kg.

The mean SSQ score (out of 1,700) prior to first dila-

tation was 1,108.11 (SD ± 272.85). The mean follow-up

SSQ score was 297.78 (SD ± 189.14). The average dif-

ference in scores before and after treatment was therefore

810.33 (95% CI = 576.9–1043.8), representing a 73%

decrease in degree of dysphagia symptoms (paired t-test,

P = 0.0001). All mean scores for individual questions also

showed significant reduction post-treatment (P \ 0.05)

(Table 2).

No patients suffered lower respiratory tract infections

requiring inpatient admission prior to commencement of

dilatations. No patients were admitted with lower respira-

tory tract infection throughout the course of treatment. All

patients are alive and living independently. Oral feeding is

maintained in all patients. No peri-intervention morbidity

or adverse events were reported.

Discussion

The natural course of OPMD results in dysphagia, which

becomes severe and leads to aspiration, malnutrition, and

death. As a relatively rare disease, diagnosis can often take

time and symptoms tend to develop slowly, consistent with

Table 1 Patient demographics and outcomes

Patient Gender Duration of

symptoms

before

dilatation

(years)

Age at

first

dilatation

(years)

Length of

treatment

period

(years)

Number

of

dilatations

Average

interval

between

dilatations

(months)

Weight

gain

(kg)

Preintervention

SSQ score

(/1700)

Follow-

up SSQ

score

(/1700)

% SSQ

score

reduction

Time between

follow-up and

last dilatation

(months)

1 F 5 77 6 16 4.5 6 1272 254 59.9 3

2 F 7 56 13 6 30.8 0 886 122 44.9 8

3 F 5 53 13 4 45.0 13 861 302 32.9 5

4 M 5 50 13 10 9.2 0 1186 552 37.3 3

5 M 1 62 15 8 22.6 2 1010 293 42.2 4

6 F 1 62 5 7 8.0 -6 901 604 17.5 5

7 F 9 52 3 4 13.7 13 1311 378 54.9 4

8 F 10 71 10 1 N/A 12 1663 82 93.0 114

9 F 8 58 13 9 17.3 0 883 93 46.5 21

218 J. G. Manjaly et al.: Dysphagia in Oculopharyngeal Muscular Dystrophy

123

our results that showed an average of 5–6 years of symp-

toms prior to the first treatment intervention.

To our knowledge, cricopharyngeal dilatation has been

used in isolated instances to treat OPMD, but it is yet to

become an established treatment method and no reports

exist to date of long-term repeated use. Mathieu et al. [14]

performed one dilatation in each of 14 patients and dem-

onstrated subjective swallowing improvement in 9 patients

at 3 months, with 3 patients continuing to experience

benefit after 18 months.

In this study, using an assessment tool tested for reliability

and validity, patients reported an average 73% decrease in

degree of dysphagia symptoms over a period of 3–15 years.

The fact that six of these nine patients have been treated for

more than 10 years makes this a significant finding. The

main limitation in current treatment methods is eventual

recurrence of symptoms. This was true for eight of our nine

patients, who returned for repeat dilatation after a variable

length of time. Up to 16 dilatations have been tolerated to

date in a single patient, whilst interestingly one patient

reported maintenance of symptoms lasting 10 years from

first dilatation without the need yet for a further procedure.

Maintenance of weight and reduction in chest infections

are important outcome measures when treating swallowing

disorders. Except one patient who reported a modest

weight loss of 6 kg over 5 years, all other patients either

maintained or gained weight over the length of the

treatment period. Crucially, all patients are still maintain-

ing oral feeding and living independently.

Cricopharyngeal myotomy is the most common inter-

vention for dysphagia in OPMD. Coiffier et al. [10]

investigated the long-term effect of this procedure. Their

study found recurrence after a mean period of 39 months in

34% of the patients, all of whom had reported initial res-

olution or marked improvement of symptoms. Progression

to PEG feeding, major weight loss, and death were reported

in these patients. The authors explain that the efficacy of

myotomy decreases as muscular degradation becomes

more advanced or is rapidly advancing, making early

diagnosis and treatment important.

Cricopharyngeal myotomy requires patients to be fit for

general anaesthesia and involves overnight hospitalisation

and a 1-week recovery period. Brigand et al. [15] found

that in 139 patients treated with myotomy for dysphagia

due to muscular dystrophy, 8 developed postoperative

pulmonary complications and 4 of them died. Other

reported complications include penetration of the pharyn-

geal wall and development of haematoma. In contrast,

cricopharyngeal dilatation is a repeatable therapy that is

carried out with the patients under sedation and the patient

returns home the same day. Theoretical complications

would include perforation and haemorrhage. Our patient

group ranged in age from 50 to 77 years at first dilatation.

Our eldest patient received her most recent dilatation at the

Table 2 Sydney Swallow Questionnaire mean scores

List of questions from Sydney Swallow Questionnaire Preintervention

mean score

Last follow-up

mean score

P value

1. How much difficulty do you have swallowing at present? 76.9 14.4 0.0002

2. How much difficulty do you have swallowing THIN liquids? 37.8 6.6 0.0157

3. How much difficulty do you have swallowing THICK liquids? 55.8 8.4 0.0014

4. How much difficulty do you have swallowing SOFT foods? 56.3 6.3 0.0039

5. How much difficulty do you have swallowing HARD foods? 79.6 31.0 0.0007

6. How much difficulty do you have swallowing DRY foods? 76.1 42.9 0.0176

7. Do you have any difficulty swallowing your saliva? 51.6 18.9 0.0275

8. Do you have any difficulty starting a swallow? 69.9 26.1 0.0058

9. Do you ever have a feeling of food getting stuck in your throat

when you swallow?

82.9 27.8 0.0009

10. Do you ever cough or choke when swallowing solid foods? 80.9 20.1 0.0001

11. Do you ever cough or choke when swallowing liquids? 56.3 12.6 0.0067

12. How long does it take you to eat an average meal? (non-analogue scale question) 42.2 17.8 0.0023

13. When you swallow does food or liquid go up behind your nose or come

out of your nose?

42.0 6.4 0.0132

14. Do you ever need to swallow more than once for your food to go down? 81.6 19.2 \0.0001

15. Do you ever cough up or spit out food or liquids DURING a meal? 62.6 14.2 0.0022

16. How do you rate the severity of your swallowing problem today? 85.2 15.3 \0.0001

17. How much does your swallowing problem interfere with your enjoyment or

quality of life?

70.6 9.4 0.0005

J. G. Manjaly et al.: Dysphagia in Oculopharyngeal Muscular Dystrophy 219

123

age of 83. After a total of 65 dilatations in all patients, no

adverse post-procedure events have been reported to date.

We recognise the limitations of this study. The small

sample size means the inability to precisely identify any

predictive factors of outcome. Blinding was not practical

and we accept a long follow-up time in recalling symptoms

for some patients. There is potential for bias in that patients

may expect intervention to have had a positive effect on

their swallowing. However, we believe the results dem-

onstrated here regarding procedure safety and, crucially,

maintenance of oral feeding are very clear after a very long

follow-up time and are strengthened by the fact that all

patients with recurring symptoms are continuing to present

voluntarily for repeat intervention.

OPMD is a progressive disease that tends to result in

significant morbidity and early death. With a background

of limited long-term treatment options documented to date,

this study has shown that cricopharyngeal dilatation can be

repeated safely over a number of years to provide signifi-

cant symptom improvement and maintenance.

Further studies of this rare disease are needed to estab-

lish best practice. The 2004 Cochrane review of chronic

muscle disease dysphagia [11] highlighted the lack of a

randomised controlled trial for any treatment modality. A

study with a larger sample size would help to identify

predictive factors that would enable tailoring of treatment.

Other therapeutic options for cricopharyngeal dysfunction

have been proposed, including botulinum toxin injection

and transmucosal laser myotomy. Observations of the long-

term effects of different therapies for OPMD may be

applicable to the treatment of other swallowing disorders.

Conclusion

Dysphagia leading to aspiration, failure to maintain oral

feeding, and early death are the main prognostic markers in

OPMD with limited long-term treatment options to date.

This study is the first to demonstrate that repeated crico-

pharyngeal dilatation over many years is a safe and

well-tolerated intervention for OPMD. Treatment can be

initiated before symptoms become severe, and patients

report effective reduction in dysphagia symptoms and

long-lasting maintenance of oral feeding.

Acknowledgments We are grateful for the input of Dr. David

Robinson, Deputy Head of Molecular Genetics, Wessex Regional

Genetics Laboratory, UK.

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Joseph G. Manjaly MBChB, BSc, MRCS, DOHNS

Peter G. Vaughan-Shaw MBChB, BSc, MRCS

Oliver T. Dale BMBS, BMedSci, MRCS, DOHNS

Susan Tyler MRCSLT

Jonathan C. R. Corlett FRCS

Roger A. Frost MBBS, FRCP, FRCR

220 J. G. Manjaly et al.: Dysphagia in Oculopharyngeal Muscular Dystrophy

123