- Email: [email protected]
Cricopharyngeal Myotomy in the Treatment of Oculopharyngeal Muscular Dystrophy
Acta Otorrinolaringol Esp. 2012;63(6):465---469
www.elsevier.es/otorrino
BRIEF COMMUNICATION
Cricopharyngeal Myotomy in the Treatment of Oculopharyngeal Muscular Dystrophy夽 Antonio Gómez-Torres,a,∗ Antonio Abrante Jiménez,a Eloy Rivas Infante,b Alicia Menoyo Bueno,a Isabel Tirado Zamora,a Francisco Esteban Ortegaa a b
Unidad de Gestión Clínica de Otorrinolaringología, Hospital Universitario Virgen del Rocío, Sevilla, Spain Servicio de Anatomía Patológica, Hospital Universitario Virgen del Rocío, Sevilla, Spain
Received 16 March 2012; accepted 4 June 2012
KEYWORDS Oculopharyngeal muscular dystrophy; Dysphagia; Treatment; Cricopharyngeal myotomy
PALABRAS CLAVE Distrofia muscular oculofaríngea; Disfagia; Tratamiento; Miotomía del cricofaríngeo
Abstract Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant myopathic disease which provokes oropharyngeal dysphagia, palpabral ptosis and proximal limb weakness. It is the abnormal expression of the GCG triplet in the PABPN1 gene on chromosome 14 that causes this disease. The study of the oropharyngeal dysphagia that these patients suffer from should include upper gastrointestinal endoscopy, barium video-radiology and oesophageal manometry. Genetic study confirms the diagnosis. We report 6 patients (3 of whom were siblings) referred to our department with a confirmed diagnosis of OPMD, who underwent cricopharyngeal myotomy to achieve normal swallowing. © 2012 Elsevier España, S.L. All rights reserved.
Miotomía del cricofaríngeo en el tratamiento de la distrofia muscular oculofaríngea Resumen La distrofia muscular oculofaríngea (DMOF) es una enfermedad hereditaria autosómica dominante que causa disfagia orofaríngea, ptosis palpebral y debilidad muscular proximal. Es causada por una expresión anormal del triplete GCG del gen PABPN1, situado en el cromosoma 14. El estudio de la disfagia orofaríngea que sufren estos pacientes se basa en la historia clínica, la endoscopia digestiva alta, la radiología con contraste baritado y la manometría esofágica. El diagnóstico definitivo se confirma con el estudio genético. Presentamos 6 casos, 3 de ellos de una misma familia, remitidos a nuestro departamento con el diagnóstico confirmado de DMOF, los cuales se sometieron a una miotomía del cricofaríngeo para conseguir una deglución normal. © 2012 Elsevier España, S.L. Todos los derechos reservados.
Introduction 夽 Please cite this article as: Gómez-Torres A, et al. Miotomía del cricofaríngeo en el tratamiento de la distrofia muscular oculofaríngea. Acta Otorrinolaringol Esp. 2012;63:465---9. ∗ Corresponding author. E-mail address: [email protected] (A. Gómez-Torres).
Oculopharyngeal muscular dystrophy (OPMD) is a late-onset autosomal dominant muscular illness. Progressive weakness of the ocular musculature was described by von Greafe in 1868 as ‘‘external progressive ophthalmoplegia’’.1
2173-5735/$ – see front matter © 2012 Elsevier España, S.L. All rights reserved.
466 Table 1
A. Gómez-Torres et al. Clinical and Epidemiological Characteristics of the Patients.
Patient
Gender
Age
Symptoms
Personal History
1
Female
67
Of no interest
2
Female
71
3
Female
72
4
Male
78
5
Male
58
6
Male
57
Dysphagia +++ Operated palpebral ptosis Proximal muscle weakness + Dysphagia +++ Operated palpebral ptosis Proximal muscle weakness + Dysphagia ++ Palpebral ptosis Dysphagia ++ Palpebral ptosis Dysphagia ++ Palpebral ptosis Dysphagia ++ Palpebral ptosis
Of no interest
Of no interest Raised blood pressure Of no interest Of no interest
+: mild symptom; ++: moderate symptom; +++: severe symptom.
OPMD causes palpebral ptosis, oropharyngeal dysphagia and proximal weakness in the limbs. OPMD was finally described by Taylor in 1915.2 The incidence and prevalence of this illness are very low, but cases have been reported all over the world. The population most affected by OPMD is to be found in the Quebec region of Canada, with a prevalence estimated at 1:10003 and in Israeli immigrants, with an estimated prevalence of 1:600.4 OPMD is caused by the short expansion of the repeated triplet (GCG) 8---13 in the PABPN1 gene located in chromosome 14.5 In this paper, we report on 6 patients, 3 of them from the same family, referred to our department with a confirmed diagnosis of OPMD for the performance of cricopharyngeal myotomy (CM) in order to improve swallowing.
Materials and Methods We conducted a prospective observational study of 6 patients diagnosed as having OPMD and referred to our department for assessment of surgery as treatment for their symptoms. The diagnosis had been genetically confirmed in all patients. Following surgery, they were monitored via the Otorhinolaryngology Out-Patients Clinic. Patients’ clinical and epidemiological characteristics are listed in Table 1. During the surgical procedure, a sample of the cricopharyngeal and sternocleidomastoid muscles was taken from each patient for study by pathologists. These samples were subjected to the normal tests for muscles (haematoxylineosin, Gomori’s trichromic test, Oil Red O and PAS), as well as special histoenzymatic techniques (COX, SDH, NADH and ATPases 9.4, 4.6 and 4.3) (Figs. 1---3).
Results CM was performed on all 6 patients. The approach consisted in a right cervicotomy, after placement of an inflated Foley catheter at the level of the Upper Oesophageal Sphincter (UOS), followed by exposure and identification of the cricopharyngeal muscle, and the performance of myotomy on the latter. Patients were discharged without complications the day after the procedure and were
monitored through the ENT Out-Patient Clinic, with a minimum follow-up of 18 months and a maximum of 37 months. The improvement in dysphagia was moderate in 2 patients (33.3%) and considerable in the other four (66.6%). The results obtained and the review fibroendoscopic examinations are shown in Table 2. The pathology study of the cricopharyngeal muscle revealed severe atrophy of the muscle fibres, with fibrosis and adipose substitution, with identification of vacuoles rimmed with basophilic material, characteristic of OPMD; there was neither necrosis nor inflammatory infiltrates. There were much more discreet in the sternocleidomastoid muscle, with no fibrosis but some atrophic fibres with rimmed vacuoles.
Discussion OPMD is an autosomal dominant myopathic disorder causing palpebral ptosis, oculopharyngeal dysphagia and proximal muscle weakness. This disease is included within those caused by triplet repetition. OPMD is caused by the expansion of a GCG triplet located on the first exon of gene 1 in the polyadenylate binding protein (PABPN1), in chromosome 14 (14q11.2---q13).5 Nonetheless, cases have been described with other mutations and other phenotypes, albeit rarely.6 Cases of OPMD have been reported all over the world. The 2 largest populations of these individuals can be found in Canada, due to a family of French origin that emigrated to Canada in 1634,3 and among Bukhara Jews who emigrated to Israel from Uzbekistan.4 Smaller populations have been described in Europe and in the United States of America. Clinical signs include palpebral ptosis, dysphagia and proximal muscle weakness. Palpebral ptosis may precede or appear together with dysphagia in most patients; muscle weakness may appear after ptosis and dysphagia. Swallowing is a neurophysiologically complex action. The correct operation of the UOS is an essential part of correct swallowing; its alteration may lead to potentially lifethreatening dysphagia. Barium meals and video-endoscopy are 2 major tools for determining the severity of dysphagia.
Cricopharyngeal myotomy in the treatment of oculopharyngeal muscular dystrophy Table 2
467
Results Obtained and Follow-up.
Patient
Date of Operation
Follow-up, months
Improvement in Dysphagia
Fibroendoscopic Examination
1
October, 2008
37 months
++
2
September, 2009
28 months
+++
3 4
March, 2010 March, 2010
18 months 18 months
+++ ++
5 6
March, 2010 March, 2010
18 months 18 months
+++ +++
Discreet salivary stasis in right pyriform sinus Paralysis of left vocal cord with good glottal closure Normal Minimal salivary stasis in pyriform sinuses Normal Normal
+: mild improvement; ++: moderate improvement; +++: considerable improvement.
A manometric study will show repetitive weak contractions of the hypopharyngeal and oesophageal muscles; relaxation of the UOS may be delayed and incomplete due to the weakness of the hypopharyngeal muscles.7 The role of muscle biopsy has been relegated to a secondary level; no biopsy is necessary with a complete case history for the individual
Cricopharyngeal muscle
Rimmed vacuole
and the immediate family, and a positive genetic study. However, when faced with a strong diagnostic suspicion and a negative genetic study, the biopsy may clarify the diagnosis.8 Differential diagnosis must include mitochondriopathies and illnesses affecting neuromuscular transmission, such as myasthenia gravis.8
Sternocleidomastoid muscle
Rimmed vacuole
Figure 1 Patient four. Severe fibrosis can be seen in the cricopharyngeal muscle, with adipose substitution and severe atrophy; there are rimmed vacuoles; in the sternocleidomastoid muscle, the fibrosis is mild, with scant rimmed vacuoles.
468
A. Gómez-Torres et al. Cricopharyngeal muscle
Sternocleidomastoid muscle
Rimmed vacuole
Figure 2
Patient five. The changes are less marked with respect to Fig. 1.
There is so far no curative treatment. Treatment consists of measures to reduce the impact of palpebral ptosis and dysphagia, with its subsequent malnutrition. The optimization of the swallowing process begins with rehabilitation therapy, including advice on food consistency or the positioning of the head during swallowing.9,10 A protein-rich diet is recommended for an optimal nutritional balance.11 Pneumonia due to aspiration is a frequent complication that must be forestalled.12 If the manometric study shows hypertonia of the UOS, treatment with nifedipine (20=40 mg) or isosorbide dinitrate (5 mg) may be started.13 Around 80% of patients may benefit from CM, according to the series published. However, these studies do not refer to the duration of the follow-up of patients.14---17 The presence of dysarthria is a prognostic factor for poor response to CM.14 In our paper, we have performed clinical follow-up of at least 18 months, with a mean of 22.8 months of followup; none of the patients presented dysarthria at the time of the procedure. The injection of botulinum toxin into the cricopharyngeal muscle, under endoscopy, with 50---100 U per session, achieves paralysis (relaxation) of the muscle and swallowing in a few days. The disadvantage is that the effect gradually
wears off, but the sessions can be repeated.13 It is indicated in patients at high risk for surgery.18 Percutaneous gastrostomy constitutes the definitive treatment for dysphagia but definitively alters the patient’s feeding through the natural route.8 Nonetheless, percutaneous gastrostomy does not completely prevent aspiration; the use of a jejunostomy catheter during gastrostomy diminishes the risk of aspiration with respect to a standard gastrostomy catheter. Baseline aspiration (i.e. nonfood-related aspiration) is still present in patients with gastrostomy. Gastrostomy in patients with altered sensitivity may increase the risk of aspiration.19 Gastrostomy improves quality of life and longevity in patients with muscular dystrophy. Its use should be considered in the following situations: (1) initial stages of dysphagia, prior to gradual weight loss, and pulmonary alteration; and (2) during peri-operative periods in which patients must be checked exhaustively due to their unstable pulmonary status.20 In our case, CM was performed on all 6 patients. After being discharged the day after the surgical procedure, they were monitored via the Ear, Nose and Throat Out-Patients Clinic. The improvement in dysphagia was moderate in 2 patients (33.3%) and considerable in the other 4 patients
Cricopharyngeal myotomy in the treatment of oculopharyngeal muscular dystrophy
5.
6.
7.
8.
9. 10.
Figure 3
Patient five. Enlarged image of rimmed vacuoles.
(66.6%). In terms of complications, one patient presented paramedian paralysis of the left vocal cord, but with good compensation in the contralateral cord and good glottal closure. Patients improved in terms of choking and aspiration episodes. None of the patients have required any other kind of endoscopic treatment or open surgery, they merely continue with swallowing therapy. In summary, CM must be considered as a good method for treating dysphagia in patients with OPMD and a moderately or severely compromised swallowing function as it eliminates the barrier effect present at the level of this muscle (Figs. 1---3).
Conflict of Interest
11.
12.
13.
14.
15.
16.
The authors have no conflict of interests to declare.
References 1. von Graefe A. Verhandlungen ärztlicher Gesellschaften: Sitzung vom 19 Der Berliner medizinischen Gesellschaft. Berl Klin Wochenschr. 1868;5:127. 2. Taylor EW. Progressive vagus-glossopharyngeal paralysis with ptosis. A contribution to the group of family diseases. J Nerv Ment Dis. 1915;42:124---39. 3. Duranceau AC, Beauchamp G, Jamieson GG, Barbeau A. Oropharyngeal dysphagia and oculopharyngeal muscular dystrophy. Surg Clin North Am. 1983;63:825---32. 4. Blumen SC, Sadeh M, Korczyn AD, Rouche A, Nisipeanu P, Asherov A, et al. Intranuclear inclusions in oculopharyngeal
17.
18.
19.
20.
469
muscular dystrophy among Bukhara Jews. Neurology. 1996;46: 1324---8. Brais B, Bouchard JP, Xie YG, Rochefort DL, Chrétien N, Tomé FM, et al. Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nat Genet. 1998;18:164---7. Blumen SC, Brais B, Korczyn AD, Medisnky S, Chapman J, Asherov A, et al. Homoczygotes for oculopharyngeal muscular dystrophy have a severe form of the disease. Ann Neurol. 1999;46:115---8. Young EC, Durant-Jones L. Gradual onset of dysphagia: a study of patients with oculopharyngeal muscular dystrophy. Dysphagia. 1997;12:196---201. Ruegg S, Lehky H, Hohl U, Kappos L, Fuhr P, Plasilov M, et al. Oculopharyngeal muscular dystrophy----an under diagnosed disorder. Swiss Med Wkly. 2005;135:574---86. Domenech E, Kelly J. Swallowing disorders. Med Clin North Am. 1999;83:97---113. Palmer J, Drennan J, Baba M. Evaluation and treatment of swallowing impairments. Am Fam Physician. 2000;61:2453---62. Schindler A, Grosso E, Tiddia C, Cavalot AI, Ricca G, Ottaviani F, et al. Swallowing disorders: management data. Acta Otolaryngol Ital. 2003;23:180---4. Bumm K, Zenker M, Bozzato A. Oculopharyngeal muscular dystrophy as a rare differential diagnosis for unexplained dysphagia: a case report. Cases J. 2009;28:94. Hernández-Montero E, Mesa-Marrero M, de Frías-Berzosa G, Rivas-Lacarte P. Distrofia muscular óculo-faríngea: presentación de un caso y revisión de la literatura. Acta Otorrinolaringol Esp. 2011. http://dx.doi.org/10.1016/j.otorri.2011.04.005. Poirier NC, Bonavina L, Taillefer R, Nosadini A, Peracchia A, Duranceau A. Cricopharyngeal myotomy for neurogenic oropharyngeal dysphagia. J Thorac Cardiovasc Surg. 1997;113: 233---41. Duranceau A. Cricopharyngeal myotomy in the management of neuogenic and muscular dysphagia. Neuromuscul Disord. 1997;7:85---9. Fradet G, Pouliot D, Robichaud R, St-Pierre S, Bouchard JP. Upper esophageal sphincter myotomy in oculopharyngeal muscular dystrophy: long-term clinical results. Neuromuscul Disord. 1997;7:90---5. Périé S, Eymard B, Laccourreye L, Chaussade S, Fardeau M, StGuily JL. Dysphagia in oculopharyngeal muscular dystrophy: a series of 22 French cases. Neuromuscul Disord. 1997;7:96---9. Clavé P, Arreola V, Velasco M, Quer M, Castellvi JM, García Peris P, et al. Diagnóstico y tratamiento de la disfagia orofaríngea funcional. Aspectos de interés para el cirujano digestivo. Cir Esp. 2007;82:62---76. Carrau RL, Murry T. Evaluation and management of adult dysphagia and aspiration. Curr Opin Otolaryngol Head Neck Surg. 2000;8:489---96. Mizuno T, Komaki H, Sasaki T, Tokanoha S, Kuroda K, Kon K, et al. Efficacy and tolerance of gastrostomy feeding in Japanese musculardystrophy patients. Brain Dev. 2011. http://dx.doi.org/10.1016/j.braindev.2011.11.012.
www.elsevier.es/otorrino
BRIEF COMMUNICATION
Cricopharyngeal Myotomy in the Treatment of Oculopharyngeal Muscular Dystrophy夽 Antonio Gómez-Torres,a,∗ Antonio Abrante Jiménez,a Eloy Rivas Infante,b Alicia Menoyo Bueno,a Isabel Tirado Zamora,a Francisco Esteban Ortegaa a b
Unidad de Gestión Clínica de Otorrinolaringología, Hospital Universitario Virgen del Rocío, Sevilla, Spain Servicio de Anatomía Patológica, Hospital Universitario Virgen del Rocío, Sevilla, Spain
Received 16 March 2012; accepted 4 June 2012
KEYWORDS Oculopharyngeal muscular dystrophy; Dysphagia; Treatment; Cricopharyngeal myotomy
PALABRAS CLAVE Distrofia muscular oculofaríngea; Disfagia; Tratamiento; Miotomía del cricofaríngeo
Abstract Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant myopathic disease which provokes oropharyngeal dysphagia, palpabral ptosis and proximal limb weakness. It is the abnormal expression of the GCG triplet in the PABPN1 gene on chromosome 14 that causes this disease. The study of the oropharyngeal dysphagia that these patients suffer from should include upper gastrointestinal endoscopy, barium video-radiology and oesophageal manometry. Genetic study confirms the diagnosis. We report 6 patients (3 of whom were siblings) referred to our department with a confirmed diagnosis of OPMD, who underwent cricopharyngeal myotomy to achieve normal swallowing. © 2012 Elsevier España, S.L. All rights reserved.
Miotomía del cricofaríngeo en el tratamiento de la distrofia muscular oculofaríngea Resumen La distrofia muscular oculofaríngea (DMOF) es una enfermedad hereditaria autosómica dominante que causa disfagia orofaríngea, ptosis palpebral y debilidad muscular proximal. Es causada por una expresión anormal del triplete GCG del gen PABPN1, situado en el cromosoma 14. El estudio de la disfagia orofaríngea que sufren estos pacientes se basa en la historia clínica, la endoscopia digestiva alta, la radiología con contraste baritado y la manometría esofágica. El diagnóstico definitivo se confirma con el estudio genético. Presentamos 6 casos, 3 de ellos de una misma familia, remitidos a nuestro departamento con el diagnóstico confirmado de DMOF, los cuales se sometieron a una miotomía del cricofaríngeo para conseguir una deglución normal. © 2012 Elsevier España, S.L. Todos los derechos reservados.
Introduction 夽 Please cite this article as: Gómez-Torres A, et al. Miotomía del cricofaríngeo en el tratamiento de la distrofia muscular oculofaríngea. Acta Otorrinolaringol Esp. 2012;63:465---9. ∗ Corresponding author. E-mail address: [email protected] (A. Gómez-Torres).
Oculopharyngeal muscular dystrophy (OPMD) is a late-onset autosomal dominant muscular illness. Progressive weakness of the ocular musculature was described by von Greafe in 1868 as ‘‘external progressive ophthalmoplegia’’.1
2173-5735/$ – see front matter © 2012 Elsevier España, S.L. All rights reserved.
466 Table 1
A. Gómez-Torres et al. Clinical and Epidemiological Characteristics of the Patients.
Patient
Gender
Age
Symptoms
Personal History
1
Female
67
Of no interest
2
Female
71
3
Female
72
4
Male
78
5
Male
58
6
Male
57
Dysphagia +++ Operated palpebral ptosis Proximal muscle weakness + Dysphagia +++ Operated palpebral ptosis Proximal muscle weakness + Dysphagia ++ Palpebral ptosis Dysphagia ++ Palpebral ptosis Dysphagia ++ Palpebral ptosis Dysphagia ++ Palpebral ptosis
Of no interest
Of no interest Raised blood pressure Of no interest Of no interest
+: mild symptom; ++: moderate symptom; +++: severe symptom.
OPMD causes palpebral ptosis, oropharyngeal dysphagia and proximal weakness in the limbs. OPMD was finally described by Taylor in 1915.2 The incidence and prevalence of this illness are very low, but cases have been reported all over the world. The population most affected by OPMD is to be found in the Quebec region of Canada, with a prevalence estimated at 1:10003 and in Israeli immigrants, with an estimated prevalence of 1:600.4 OPMD is caused by the short expansion of the repeated triplet (GCG) 8---13 in the PABPN1 gene located in chromosome 14.5 In this paper, we report on 6 patients, 3 of them from the same family, referred to our department with a confirmed diagnosis of OPMD for the performance of cricopharyngeal myotomy (CM) in order to improve swallowing.
Materials and Methods We conducted a prospective observational study of 6 patients diagnosed as having OPMD and referred to our department for assessment of surgery as treatment for their symptoms. The diagnosis had been genetically confirmed in all patients. Following surgery, they were monitored via the Otorhinolaryngology Out-Patients Clinic. Patients’ clinical and epidemiological characteristics are listed in Table 1. During the surgical procedure, a sample of the cricopharyngeal and sternocleidomastoid muscles was taken from each patient for study by pathologists. These samples were subjected to the normal tests for muscles (haematoxylineosin, Gomori’s trichromic test, Oil Red O and PAS), as well as special histoenzymatic techniques (COX, SDH, NADH and ATPases 9.4, 4.6 and 4.3) (Figs. 1---3).
Results CM was performed on all 6 patients. The approach consisted in a right cervicotomy, after placement of an inflated Foley catheter at the level of the Upper Oesophageal Sphincter (UOS), followed by exposure and identification of the cricopharyngeal muscle, and the performance of myotomy on the latter. Patients were discharged without complications the day after the procedure and were
monitored through the ENT Out-Patient Clinic, with a minimum follow-up of 18 months and a maximum of 37 months. The improvement in dysphagia was moderate in 2 patients (33.3%) and considerable in the other four (66.6%). The results obtained and the review fibroendoscopic examinations are shown in Table 2. The pathology study of the cricopharyngeal muscle revealed severe atrophy of the muscle fibres, with fibrosis and adipose substitution, with identification of vacuoles rimmed with basophilic material, characteristic of OPMD; there was neither necrosis nor inflammatory infiltrates. There were much more discreet in the sternocleidomastoid muscle, with no fibrosis but some atrophic fibres with rimmed vacuoles.
Discussion OPMD is an autosomal dominant myopathic disorder causing palpebral ptosis, oculopharyngeal dysphagia and proximal muscle weakness. This disease is included within those caused by triplet repetition. OPMD is caused by the expansion of a GCG triplet located on the first exon of gene 1 in the polyadenylate binding protein (PABPN1), in chromosome 14 (14q11.2---q13).5 Nonetheless, cases have been described with other mutations and other phenotypes, albeit rarely.6 Cases of OPMD have been reported all over the world. The 2 largest populations of these individuals can be found in Canada, due to a family of French origin that emigrated to Canada in 1634,3 and among Bukhara Jews who emigrated to Israel from Uzbekistan.4 Smaller populations have been described in Europe and in the United States of America. Clinical signs include palpebral ptosis, dysphagia and proximal muscle weakness. Palpebral ptosis may precede or appear together with dysphagia in most patients; muscle weakness may appear after ptosis and dysphagia. Swallowing is a neurophysiologically complex action. The correct operation of the UOS is an essential part of correct swallowing; its alteration may lead to potentially lifethreatening dysphagia. Barium meals and video-endoscopy are 2 major tools for determining the severity of dysphagia.
Cricopharyngeal myotomy in the treatment of oculopharyngeal muscular dystrophy Table 2
467
Results Obtained and Follow-up.
Patient
Date of Operation
Follow-up, months
Improvement in Dysphagia
Fibroendoscopic Examination
1
October, 2008
37 months
++
2
September, 2009
28 months
+++
3 4
March, 2010 March, 2010
18 months 18 months
+++ ++
5 6
March, 2010 March, 2010
18 months 18 months
+++ +++
Discreet salivary stasis in right pyriform sinus Paralysis of left vocal cord with good glottal closure Normal Minimal salivary stasis in pyriform sinuses Normal Normal
+: mild improvement; ++: moderate improvement; +++: considerable improvement.
A manometric study will show repetitive weak contractions of the hypopharyngeal and oesophageal muscles; relaxation of the UOS may be delayed and incomplete due to the weakness of the hypopharyngeal muscles.7 The role of muscle biopsy has been relegated to a secondary level; no biopsy is necessary with a complete case history for the individual
Cricopharyngeal muscle
Rimmed vacuole
and the immediate family, and a positive genetic study. However, when faced with a strong diagnostic suspicion and a negative genetic study, the biopsy may clarify the diagnosis.8 Differential diagnosis must include mitochondriopathies and illnesses affecting neuromuscular transmission, such as myasthenia gravis.8
Sternocleidomastoid muscle
Rimmed vacuole
Figure 1 Patient four. Severe fibrosis can be seen in the cricopharyngeal muscle, with adipose substitution and severe atrophy; there are rimmed vacuoles; in the sternocleidomastoid muscle, the fibrosis is mild, with scant rimmed vacuoles.
468
A. Gómez-Torres et al. Cricopharyngeal muscle
Sternocleidomastoid muscle
Rimmed vacuole
Figure 2
Patient five. The changes are less marked with respect to Fig. 1.
There is so far no curative treatment. Treatment consists of measures to reduce the impact of palpebral ptosis and dysphagia, with its subsequent malnutrition. The optimization of the swallowing process begins with rehabilitation therapy, including advice on food consistency or the positioning of the head during swallowing.9,10 A protein-rich diet is recommended for an optimal nutritional balance.11 Pneumonia due to aspiration is a frequent complication that must be forestalled.12 If the manometric study shows hypertonia of the UOS, treatment with nifedipine (20=40 mg) or isosorbide dinitrate (5 mg) may be started.13 Around 80% of patients may benefit from CM, according to the series published. However, these studies do not refer to the duration of the follow-up of patients.14---17 The presence of dysarthria is a prognostic factor for poor response to CM.14 In our paper, we have performed clinical follow-up of at least 18 months, with a mean of 22.8 months of followup; none of the patients presented dysarthria at the time of the procedure. The injection of botulinum toxin into the cricopharyngeal muscle, under endoscopy, with 50---100 U per session, achieves paralysis (relaxation) of the muscle and swallowing in a few days. The disadvantage is that the effect gradually
wears off, but the sessions can be repeated.13 It is indicated in patients at high risk for surgery.18 Percutaneous gastrostomy constitutes the definitive treatment for dysphagia but definitively alters the patient’s feeding through the natural route.8 Nonetheless, percutaneous gastrostomy does not completely prevent aspiration; the use of a jejunostomy catheter during gastrostomy diminishes the risk of aspiration with respect to a standard gastrostomy catheter. Baseline aspiration (i.e. nonfood-related aspiration) is still present in patients with gastrostomy. Gastrostomy in patients with altered sensitivity may increase the risk of aspiration.19 Gastrostomy improves quality of life and longevity in patients with muscular dystrophy. Its use should be considered in the following situations: (1) initial stages of dysphagia, prior to gradual weight loss, and pulmonary alteration; and (2) during peri-operative periods in which patients must be checked exhaustively due to their unstable pulmonary status.20 In our case, CM was performed on all 6 patients. After being discharged the day after the surgical procedure, they were monitored via the Ear, Nose and Throat Out-Patients Clinic. The improvement in dysphagia was moderate in 2 patients (33.3%) and considerable in the other 4 patients
Cricopharyngeal myotomy in the treatment of oculopharyngeal muscular dystrophy
5.
6.
7.
8.
9. 10.
Figure 3
Patient five. Enlarged image of rimmed vacuoles.
(66.6%). In terms of complications, one patient presented paramedian paralysis of the left vocal cord, but with good compensation in the contralateral cord and good glottal closure. Patients improved in terms of choking and aspiration episodes. None of the patients have required any other kind of endoscopic treatment or open surgery, they merely continue with swallowing therapy. In summary, CM must be considered as a good method for treating dysphagia in patients with OPMD and a moderately or severely compromised swallowing function as it eliminates the barrier effect present at the level of this muscle (Figs. 1---3).
Conflict of Interest
11.
12.
13.
14.
15.
16.
The authors have no conflict of interests to declare.
References 1. von Graefe A. Verhandlungen ärztlicher Gesellschaften: Sitzung vom 19 Der Berliner medizinischen Gesellschaft. Berl Klin Wochenschr. 1868;5:127. 2. Taylor EW. Progressive vagus-glossopharyngeal paralysis with ptosis. A contribution to the group of family diseases. J Nerv Ment Dis. 1915;42:124---39. 3. Duranceau AC, Beauchamp G, Jamieson GG, Barbeau A. Oropharyngeal dysphagia and oculopharyngeal muscular dystrophy. Surg Clin North Am. 1983;63:825---32. 4. Blumen SC, Sadeh M, Korczyn AD, Rouche A, Nisipeanu P, Asherov A, et al. Intranuclear inclusions in oculopharyngeal
17.
18.
19.
20.
469
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