Abstract
Oculo-Pharyngeal Muscular Dystrophy
(OPMD) is a rare form of muscular dystrophy typically occurring in individuals
over 50. Its primary symptoms include eyelid ptosis, dysphagia and proximal
limb weakness. This case report describes the clinical presentation, challenges
and rehabilitation approach for a 61year-old female patient with OPMD. The aim
is to highlight an atypical manifestation of dysphagia, referred by the patient
as a “dam effect,” and to emphasize the importance of a multidisciplinary
rehabilitation strategy. Despite the lack of specific guidelines in the
literature, this case highlights the fundamental role of personalized treatment
in enhancing the patient's quality of life.
Keywords: Oculo-pharyngeal muscular dystrophy,
Dysphagia, Proximal limb, Rehabilitation
1. Introduction
Oculo-Pharyngeal Muscular Dystrophy (OPMD) is an intractable
inherited myopathy caused by a genetic anomaly. It is considered a rare disease
and its incidence varies among different ethnic groups, with an incidence
ranging from 1:100,000 to 1:1,000,000 in Europe1,2. It has a late
onset around the fourth-fifth decade of life. According to a recent review1, the main symptoms
of OPMD are ptosis, dysphagia and proximal limb weakness. Patients with OPMD
may also experience extra-muscular symptoms such as deterioration of
respiratory function, dementia, executive dysfunction and generalized fatigue.
The typical
swallowing disorder is solid food becoming lodged in the throat3. Primary functional
impairments with swallowing inefficiency (e.g., pharyngeal residue) and food
aspiration have been identified3,4, which can lead to life-threatening
complications such as choking, aspiration pneumonia or malnutrition. Recent
reports suggest that swallowing problems in OPMD are not limited to pharyngeal
weakness, but that tongue strength and oral bolus control may also be reduced.
Speech changes have also been documented, ranging from palatal weakness causing
a nasal voice to articulation problems and reduced speech rate1,5.
This clinical case
was previously presented as a short communication at the 2022 ESLA European
Speech and Language Therapy Association on May 28, 2022.
2. Case Presentation
A 61-year-old female high school
teacher, diagnosed with OPMD in 2016, was referred to a Speech and Language
Pathology (SLP) center for worsening dysphagia and asthenophonia. The patient's
medical history included blepharoplasty in 2018 and ongoing management by a
multidisciplinary team comprising a neurologist, physiatrist, physiotherapist
and dietitian. Despite being underweight, the patient refused Percutaneous
Endoscopic Gastrostomy (PEG) and relied on oral intake supplemented by
high-calorie diets prescribed by a dietitian.
The patient reported a lump in her throat when eating solid foods, requiring subsequent boluses to advance the previous bolus into the esophagus. The "dam effect”, as the patient literally described it, was characterized by oropharyngeal filling with fluids that prevent passage through the esophagus and poses a significant problem. The patient managed her diet by alternating between soft and bite-sized foods (IDDSI Level 6) and pureed foods (IDDSI Level 4) and sometimes minced and moist foods (IDDSI Level 5) depending on her fatigue level. Soft drinks (IDDSI Level 0) were consumed separately to avoid choking episodes.
2.1. Clinical findings
Oral inspection revealed complete dentition, cleansed
mucosa and minimal thick secretions in the oropharynx.
Oral motor evaluation showed adequate strength and
precision, except for velar motility deficits, causing nasal regurgitation.
Reflex evaluation demonstrated a delayed pharyngeal
swallow reflex but preserved cough reflex.
Swallowing tests demonstrated:
Thin Drinks (IDDSI 0): Functional swallowing but preferred
gelled water (IDDSI Level 4) during work for easier management.
Pureed Foods (IDDSI 4): Functional swallowing.
Soft and bite-sized
foods (IDDSI 6):
Slight delay in swallowing reflex initiation; poor laryngeal elevation in no
pharyngeal stagnation sensation.
Regular Foods (IDDSI
7): Delayed
swallowing (>10 sec) and sensation like vallecular stagnation.
FEES revealed nasopharyngeal secretions, food residues in the vallecula and pyriform sinuses and compensatory head postures required for bolus clearance (Table 1).
|
Dysphagia Tests |
Score | ||
|
MASA Mann,2022 |
176 Mild Dysphagia | ||
|
DOSS O'Neil, 1999 |
4 Mild moderate Dysphagia | ||
|
MDADI Shindler, 2008 |
21 Dysphagia perceived as medium disability Global 2 Emotional 3 Functionals 5 Physical 11 | ||
|
P-SCORE Farneti, 2008 |
8 Moderate Dysphagia | ||
|
PAS Rosenbek, 1996 |
2 Penetration food remains above the
vocal folds not ejected | ||
|
|
|
|
All the dysphagia tests administered confirmed that the severity of dysphagia was moderate. Swallowing-related quality of life was also assessed using the MDADI test, which revealed a physical rather than an emotional and functional impact. The patient is aware of the difficulty but seems able to manage it.
The SLP evaluation also included dysarthria assessment. The patient presents a nasal voice, articulation difficulties, particularly with velar sounds and a reduction in speech rate. This condition is aggravated by fatigue, leading to asthenophobia and pneumonic incoordination. The shortened Robertson test questionnaire was administered, which confirmed the qualitative findings. In Table 2, voice and articulation tests are reported.
Table 2: Dysarthria assessment.
|
Voice And Dysarthria Tests |
|
Score |
|
GIRBAS |
|
G1 12 RO BO A250 |
|
VHI Jacobson, 1997 |
|
P17 F11 E17 |
|
Robertson
Dysarthria Profile mod. and adapted Italian version, 2015 |
|
Intelligibility 6/8 Breathing 8/12 Phonation 2/4 Diadocokinesis 18/24 Orofacial Musculature 60/64 Prosody 15/16 Articulation 10/12 |
|
|
||
|
|
||
|
|
||
|
|
||
|
|
||
|
|
2.2. Rehabilitation approach
2.2.1. Swallowing training:
Compensatory posture (head flexed and turned to the
left) to improve bolus clearance.
Muscular strengthening exercises (e.g., Masako
Maneuver) for tongue, lips and velar muscles.
High-intensity task-oriented swallowing practice.
2.2.2. Dysarthria management:
Pneumo-phonic coordination exercises to reduce
asthenophonia.
Articulatory and velar sound exercises.
Vocal hygiene education.
Psychological support to help the patient obtain an exemption from work by reducing vocal effort.
The patient demonstrated improved swallowing, reduced nasal regurgitation and improved bolus management. She successfully adopted compensatory strategies, which improved her feeding confidence and quality of life. Dysarthria symptoms, including nasal voice and fatigue, were managed with pneumophonic coordination and articulation exercises.
3. Discussion
This case highlights the challenges
in managing OPMD-related dysphagia, particularly in the presence of atypical
manifestations such as those reported by the patient as a "dam
effect." The findings highlight the importance of a multidisciplinary
approach, involving neurologists, physiotherapists, dietitians and SLPs, to
address the different needs of patients with OPMD6,7.
Although the literature supports the
role of rehabilitation in managing swallowing and articulation deficits8,9, there is limited evidence
describing specific treatment protocols for OPMD.
When evaluating this patient's
therapeutic response, the role of fatigue should be considered as a factor that
has a cumulative effect on the symptoms of dysphagia and dysarthria. The
patient presented with asthenophonia and pneumophonic incoordination aggravated
by fatigue, meaning that the treatment schedule and intensity must be adjusted
based on energy status. Energy-saving measures, including scheduling therapy
during peak alertness hours and including rest periods make treatment more
effective and avoid the frustration resulting from worsening symptoms.
Another issue that emerged was the
psychosocial burden of patients with OPMD. Despite her clinical difficulties,
the patient continued to work as a teacher, a job that requires a lot of verbal
communication. Her resistance to PEG and her subsequent dependence on oral
feeding indicates a strong need for independence. While these decisions are
laudable, they also demonstrate the need for psychological support during
rehabilitation. Emotional resilience and counselling regarding disease
progression, social identity and professional roles can improve overall
well-being and promote adherence to treatment recommendations.
Finally, this case raises further
questions about the need for unified yet adaptable intervention models for rare
neuromuscular diseases. While general principles of dysphagia management can be
applied, OPMD presents specific combinations of motor and sensory deficits that
require assessment tools and personalized treatment pathways. The so-called dam
effect, described by the patient, conveys a clinically essential yet
underrecognized symptom, which could be used in the future to establish
diagnostic or therapeutic guidelines. By recording these idiosyncratic
presentations and combining them with functional findings, clinicians can
contribute to the growing body of experiential knowledge base, leading to the
definition of evidence-based best practices in the management of OPMD-related
dysphagia.
4. Conclusion
This case report suggests how a multidisciplinary rehabilitation strategy can significantly improve the quality of life of patients with OPMD. Despite the rarity of the condition, detailed case reports like this may provide valuable insights into personalized interventions for dysphagia and dysarthria. Therefore, further studies are needed to establish evidence-based protocols for the management of OPMD.
5. References