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DYSPHAGIA ASSESSMENT AND TREATMENT PLANNING: A TEAM APPROACH
Tabl e 16 –2. Motor Neuron (MN) Diseases Subtypes and
Neurons Affected
Motor Neuron Disease Subtype Upper MN Lower MN
Amyotrophic lateral sclerosis Ye s Yes
Primary lateral sclerosis Yes No
Progressive muscular atrophy No Yes
Progressive bulbar palsy No Yes
Spinal muscular atrophy No Ye s
Postpolio syndrome No Yes
both timing and structural impairments may occur (and silent aspiration
is prevalent), the DSS will be invaluable
in guiding rehabilitative and compensatory strategies and texture modifications. DSS may also suggest the need
for nonoral nutrition when swallowing safety is grossly compromised.
Early assessment by videofluoroscopy
should be considered in patients presenting with ALS even in the absence
of reported dysphagia. Patients who
demonstrate combined timing and
structural abnormalities of unknown
etiology on DSS should be referred for
neurological assessment if this has not
already been carried out.
Brain Injury
Prevalence of dysphagia following
brain injury seems to vary but may
affect 20% to 70% of patients (Kang et
al., 2011; Rugiu, 2007; Takizawa et al.,
2016). Brain injury can occur as a result
of targeted intervention (surgery or
radiotherapy) or after trauma, vascular
insult, or metabolic disorder. Traumatic
brain injury (TBI) is commonly caused
by motor vehicle accidents, cycle accidents, or falls. It affects both children
and adults. Of patients who have been
mechanically ventilated following TBI,
65% failed bedside swallowing safety
evaluations (BSEs). TBI increased the
likelihood of failing a BSE by 3.2 times.
The risk of failing a swallowing survey
was increased further if the patient was
elderly (>70) or had a tracheostomy
(Brown et al., 2011).
Typically, onset of dysphagia is acute
and recovery may occur following initial injury, making reassessment vital
in determining ongoing dietary recommendations and modifications (Kim &
Suh, 2018). Swallowing impairments
after TBI often involve the voluntary
phases of deglutition and incoordination of gestures. These are highlighted
well using the DSS timing measures
described in Chapters 6 to 8. Oropharyngeal deficits are also seen following
TBI and may be accompanied by primitive reflexes (tongue pumping, sucking,
tongue extrusion) (Rugiu, 2007).
In children, severe TBI causes a high
rate of dysphagia (68%–76%) but rapidly improves, usually over 3 months
(Morgan, 2010). Given the prevalence
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of traumatic brain injuries in children
(listed as high as 280 per 100,000), there
will be a significant number of children
requiring both assessment and treatment for swallowing problems (Morgan, 2010). The inherent risks of radiation exposure from videofluoroscopy
must be weighed against the invaluable
information that can be gained from the
study that might direct dietary modifications, swallowing rehabilitation,
and removal of enteral feeding tubes
or tracheostomies. Other factors that
should be considered in children following TBI are associated motor disorders, level of cognition (ability to
appreciate their dysphagia), and postural issues (Morgan, 2010). These may
compound dysphagia and its management. In children, the DSS may show
typical adult post-TBI findings such as
tongue pumping, residue, bolus spill,
or delayed swallow but may also demonstrate additional findings not seen
in adults, such as primitive reflexes
(suckle, tongue protrusions). In a prospective study of 18 children with TBI
assessed by videofluoroscopy a month
after injury, 17% (3/18) aspirated
thirds silently (Morgan, 2010).
— two
Multiple Sclerosis
Multiple sclerosis (MS) is a progressive
demyelinating, inflammatory disease
that involves both central and peripheral nerves (Sandrini & Nappi, 2008).
Plaques form in nerve sheaths that
result in significant conduction delays
and eventual loss of function. As the
number of plaques increases in the central nervous system, the likelihood of
dysphagia increases, as the dominant
swallow hemisphere is more likely
to be involved (Tassorelli et al., 2008).
Lesions in the anterior insula or opercular area (including sensorimotor and
premotor cortices) can be involved in
the manifestation of swallow problems.
Dysphagia occurs in 24% to 43% of
patients with MS but is much more
common as disability increases (up
to 80% in advanced disease) (Ansari
et al., 2020; Danesh-Sani et al., 2013;
González-Fernández et al., 2008; Printza
et al., 2020; Rugiu, 2007; Tassorelli et
al., 2008). Dysphagia is associated with
longer disease duration, cerebellar
involvement, and increasing disability
(Calcagno et al., 2002; Danesh-Sani et
al., 2013; Pooravid et al., 2010; Tassorelli
et al., 2008). Calcagno and colleagues
(2002) followed 143 MS patients using
FEES and found that advanced disease
and cerebellar involvement portended
a higher rate of dysphagia. However,
17% of patients with milder disease also
demonstrated dysphagia. This emphasizes the need to screen, with videofluoroscopy or FEES, patients suspected of
aspiration, having pulmonary problems, or with advanced disease.
The oral and pharyngeal phases of
swallowing are often affected and UES
dysfunction is reported frequently
(100% of patients in one study) (Abraham et al. [in González-Fernández et
al., 2008]; Rugiu, 2008; Tassorelli et al.,
2008). In a study of 23 MS patients, 40%
were silent aspirators and more than
80% had some changes in either swallow safety or efficiency as assessed by
DSS (Terré-Boliart et al., 2004).
A further recent study of 101 MS
patients using only a patient screening
questionnaire (Northwestern Dysphagia Patient Check Sheet) demonstrated
pharyngeal swallowing complaints in
30% and symptoms of aspiration in
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DYSPHAGIA ASSESSMENT AND TREATMENT PLANNING: A TEAM APPROACH
7% of patients. In a study of 108 MS
patients, Printza and colleagues found
26% of subjects complained of swallowing issues, 34% showed abnormal
EAT-10 scores indicating dysphagia,
and 44% were identified to have swallowing issues by the DYMUS (dysphagia in multiple sclerosis) questionnaire
(Printza et al., 2020).
Bergamaschi and colleagues (2009)
validated the DYMUS questionnaire for
assessment of dysphagia in MS. This
10-item questionnaire is subdivided
into two scales — dysphagia with solids and dysphagia with liquids, both of
which demonstrate good internal validity and consistency (Alali et al., 2018).
Each item is scored dichotomously (yes
or no) and the survey may be completed
within a few minutes, making the
DYMUS a good screening tool for identifying those patients needing instrumental evaluation and dietary management. DYMUS has been translated into
multiple languages and further validated (Ansari et al., 2020). There is also a
shortened five-item version of DYMUS
wherein a single positive answer should
trigger full swallow assessment, as well
as modifications of the DYMUS questionnaire to address other neurological
disorders such as motor neuron disease
(DYALS, see above).
Additional questionnaire-based tools
have been developed such as the Dysphagia Screening Questionnaire for
multiple sclerosis (DSQMS). This is a
five-question (with graded responses)
tool and is self-reported by the patient.
It may indicate swallowing problems
but has not been fully validated as yet
(Ansari et al., 2020).
A bedside assessment can be augmented by tasks for patients to complete such as in the Water Swallowing
Speed Test (WSST) wherein the patient
swallows a set volume of fluid and is
timed, allowing calculation of swallow speed and volume. Previous work
using this approach in MS patients
reports high sensitivity in detecting
swallow impairment (85.5% sensitivity), but further reliability and validity testing are needed in MS patients
to understand the role of these tools
(Ansari et al., 2020).
Instrumental evaluation is still crucial in fully understanding the swallow
in MS patients given the rate of asymptomatic abnormalities. Both FEES and
videofluoroscopy provide important
swallowing information, and findings
are often complementary. The videofluoroscopic evaluation is often selected as
it allows dynamic assessment of oral,
pharyngeal, and esophageal phases
(Ansari et al., 2020) as well as identification of aspiration events. It also allows
trials of food stuffs and pills where this
may assist in management planning.
Cerebral Palsy
Cerebral palsy (CP) is a nonprogressive
neurological motor and processing disorder that arises following injury to the
fetal or infant brain. Although thought
of as a childhood disease, most people
(>85%) with CP will now survive well
into adulthood, particularly if there are
no additional disabilities present (Haak
et al., 2009). CP presents disorders of
communication and deglutition, as well
as cognition, sensation, and behavior.
Swallowing problems in CP can be both
sensory and motor in nature. Spasticity
that accompanies the musculoskeletal
changes of CP may result in disordered
swallow, unusual posturing, difficulty
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transferring food and fluids to the
oral cavity, and penetration or aspiration (Haak et al., 2009). The estimated
prevalences of drooling, swallowing
problems, and feeding issues are 44%,
50.4%, and 53.5%, respectively (Speyer
et al., 2019). Cough with food or fluids
and choking episodes, as well as silent
aspiration, have been described in CP
patients (Rogers et al., 1994). Severity
of the disorder is related to presence
of other disabilities and gross motor
function (Speyer et al., 2019). Rogers et al. (1994) demonstrated marked
abnormalities of deglutition on DSS in
86 children with CP and concomitant
other disabilities: 93% of children were
nonambulatory, 90% were mentally
retarded, and 29% had gastrostomies
placed for feeding. Benfer and colleagues compared children with CP in
Australia and Bangladesh (n = 211) and
identified oropharyngeal dysphagia in
55% and 68%, respectively (nonsignificant difference when stratified for gross
motor function) (Benfer et al., 2017). In
patients in whom CP is the only disorder present, swallowing may be far
more functional (Haak et al., 2009).
In adults with CP, swallow abnormalities are prevalent. Seo et al. (2019)
studied 17 adults with dyskinetic CP
and cervical dystonia by videofluoroscopy. They found approximately 60%
of subjects demonstrated abnormal
chewing and oral control, inadequate
mastication of bolus, premature spill
of bolus, vallecular residue, and penetration and aspiration. In this group,
silent aspiration was identified in 47%.
Swallowing parameters did not correlate with observed gross motor function
classification (Seo et al., 2019). These
findings highlight the critical role of an
instrumental assessment in holistically
assessing swallowing features in CP
patients. DSS will identify which aspect
of swallowing is affected and direct
therapy. Due to global musculoskeletal
problems, positioning during DSS may
be difficult and may need to be altered.
Dementia — Alzheimer’s Disease
Dementia is characterized by an overall decline in intellectual function and
memory. Motor skills, particularly sequenced activity, are also affected. The
population affected by any form of
dementia is predicted to triple by 2050
(Espinosa-Val et al., 2020). Multi-infarct
dementia is due to repeated vascular
insults. Alzheimer’s disease (the most
common form of dementia) is produced
by deposition of protein that impairs
neural function. Other forms of dementia may be associated with particular
disorders — for example, Huntington’s
chorea and Pick’s disease. Medications
(particularly polypharmacy seen in the
elderly) and use of drugs and alcohol
can all cause dementia and cognitive
decline.
Swallowing problems are common
in dementia. One third of Alzheimer’s
disease sufferers may aspirate (on
videofluoroscopy), and pneumonia is
the most common cause of death in
this population (González-Fernández
etal., 2008; Pizzorni et al., 2020). Poor
cognition, poor memory, and inability
to feed oneself also contribute to eating dysfunction. A recent longitudinal
study following 255 patients diagnosed
with dementia reported a prevalence
of oropharyngeal swallow dysfunction of 86% (Espinosa-Val et al., 2020).
A study of the inherited dementia,
Huntington’s disease, demonstrated
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DYSPHAGIA ASSESSMENT AND TREATMENT PLANNING: A TEAM APPROACH
high prevalence of swallow impairment, even early in the disease, including silent aspiration, and recommended
instrumental assessments in this group
(Pizzorni etal., 2020). De Stefano and
colleagues retrospectively assessed
52patients with mild cognitive decline
or dementia and swallowing issues.
Assessment included mealtime observation, FEES, Mini Mental State Exam
(MMSE), MD Anderson Dysphagia
Inventory (MDADI), and caregiver
mealtime and dysphagia questionnaire
(De Stefano etal., 2020). Clinician evaluations categorized 97% of patients as
having swallow impairment, whereas
the MDADI alone classified only 23%
of cases and the caregiver questionnaire
estimated only 54% of subjects to have
abnormal swallowing. This suggests
that instrumental evaluation is needed
to correctly assess swallow ability (De
Stefano et al., 2020).
Oral and oropharyngeal dysfunction
occur with dementia and can be seen on
DSS. Delayed airway closure predicts
unsafe swallows in demented adults
(Espinosa-Val et al., 2020). Laryngeal
deficits such as poor vocal fold mobility, weak cough, and prolonged swallow gestures increase the likelihood
that mismanagement of the bolus will
result in airway violation. Institutionalization also impacts on diet and mortality, as does oral hygiene in these
patients. A recent study of hospitalized
patients with dementia across New
York State found that 42% of patients
demonstrated swallowing problems
and that dysphagia was associated with
delirium, increased length of stay, and
mortality (odds ratio = 4.44) (Makhnevich et al., 2022). In a quasi-randomized
observational study of senile dementia
patients, fluoroscopy was used to assess
improvement of swallow parameters in
the pharynx and esophagus after swallowing therapy with or without Mendelsohn’s maneuver. Improved VFSS
scores were seen in those that received
swallow training at 15 and 30 days after
training, indicating that despite dementia, these patients may benefit from
swallow therapy (Zhang et al., 2021).
Further research in those suffering
with forms of dementia or Alzheimer’s
disease is needed to understand dysphagia progression and effective management strategies. Swallowing safety
may be the most important aspect
assessed by DSS, and it may also guide
therapeutic options. Teaching rehabilitative strategies may still be valid in some
groups despite poor memory function
and with help of caregiver input.
Medication Effects
Many medications have a detrimental
effect on swallowing. Medication can
cause clouding of mentation, extrapyramidal effects (mimicking parkinsonian
features), and delayed neuromuscular
responses. Medications are also known
to reduce lower esophageal sphincter
pressures, promoting reflux and worsening dysmotility (Tutuian, 2010) and
cause xerostomia. Many elderly individuals are on multiple medications,
thus experiencing compounding drug
effects (Ney et al., 2009). Polypharmacy
is particularly problematic in generating xerostomia and should be considered whenever a new medication is
added to existing therapy.
Many classes of common medications
cause dryness, including antihistamines,
diuretics, anticholinergic medications
for pain and mood, alpha-blockers for
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379
prostatism, and analgesics. Compensations may be required, for example,
additional voluntary hydration techniques or reducing doses of competitive or synergistic medications. Medications may also cause idiosyncratic (or
unpredictable) side effects, including
swallow problems such as bisphosphonates. New monoclonal antibodies such
as pembrolizumab have been shown to
cause progressive dysphagia in rare
patients (Reynolds & Guidon, 2019).
A physician should be involved in medication reconciliation when needed.
DSS will enable evaluation of motility
and most stricture sites and can sometimes suggest dryness when adherent
diffuse coating of barium is seen over
the tongue dorsum and valleculae.
Pill esophagitis is not uncommon in
the elderly, generated by swallowing
several pills at once, where salivary
flow is decreased and in individuals in
whom swallowing problems are more
prevalent due to coexistent pathology.
Pills lodged in the upper esophagus
can cause serious ulceration and discomfort. Large tablets or capsules may
be particularly difficult to swallow, and
reformulation of medications to liquids
can improve swallowing safety. Modifying formulations of medications (to
liquids, suspensions, or dividing the
pill) can be a crucial way to handle large
pills, as can use of alternate vehicles to
assist in pill swallowing (such as yogurt
rather than water), which may help to
transmit difficult-to-swallow medications. Care must be taken to ascertain
which medications are amenable to
crushing/breaking so that pill effectiveness is not impaired.
Testing a pill during the DSS is a vital
part of assessment for pill swallowing safety. Barium capsules of 13mm
diameter are available and can be
administered at the time of esophageal
screening, allowing the fluoroscopist
to follow the passage of the pill from
the oral cavity to the stomach. This also
mimics the patients taking their regular
medication and may demonstrate the
difficulties that they are experiencing.
Swallowing of a 13-mm barium tablet
as part of the DSS protocol (anteriorposterior view) helps identify subtle
esophageal irregularities not detected
with liquid boluses such as strictures.
Once the esophageal lumen is reduced
below 13 mm, solid food dysphagia
may occur. These effects will impact
swallowing of all texture types.
PERIPHERAL NEUROMUSCULAR
DISORDERS
Neuromuscular disorders may directly
affect the muscle or innervation to the
muscle (i.e., the neuromuscular unit).
This section considers disorders affecting peripheral neuromuscular function
rather than central dysfunction (such as
CVA, MS, or Guillain-Barré syndrome).
Inflammatory Myositis —
Polymyositis, Dermatomyositis,
Inclusion Body Myositis,
and Immune-Mediated
Necrotizing Myopathy
The inflammatory myopathies include
polymyositis (PM), dermatomyositis
(DM), necrotizing autoimmune myositis (NAM), and inclusion body myositis
(IBM) and are due to infiltration of skeletal muscle by inflammatory cells (B cells
predominant in DM, T cells predominant in PM and IBM) and deposition
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DYSPHAGIA ASSESSMENT AND TREATMENT PLANNING: A TEAM APPROACH
of abnormal protein within muscle
compartments (Ebert, 2009; Mastaglia,
2008; Naddaf et al., 2018).
Inclusion body myositis, IBM, is the
most common acquired myopathy in
adults and is progressive, with dysphagia being a major symptom and
often responsible for significant morbidity and mortality (Naddaf et al.,
2018; Stathopoulos & Dalakas, 2022).
IBM affects smaller peripheral muscle
groups (Ebert, 2009; Mastaglia, 2008)
and often affects quadriceps, finger
flexors, and facial and swallowing
muscles (Naddaf et al., 2018; Stathopoulos & Dalakas, 2022). Most cases
are idiopathic, but there appears to be
a genetic predisposition in IBM related
to the HLA-DRB1 allele, and the degenerative aspect of the disease has been
associated with missense gene variants
(Naddaf et al., 2018).
Immune-mediated necrotizing myopathy, NAM, has emerged as the most
common inflammatory myopathy in all
age groups with acute onset in days or
weeks and then a slow subacute phase
that progresses to severe muscle weakness, including swallowing impairment. NAM is associated with elevated CK levels and antibodies against
signal recognition particle (SRP) or
3-hydroxy-3-methylglutaryl-coenzyme
A reductase (HMGCR) (Stathopoulos &
Dalakas, 2022).
Proximal musculature is primarily affected in polymyositis (PM) and
dermatomyositis (DM). Reflux treatment with proton-pump inhibitors
has been associated with cases of PM
(Ebert, 2009). Dysphagia may also be
associated with increased risk of cancer in myopathy patients
— particularly
in dermatomyositis, where 15% of DM
patients have an underlying malig-
nancy and may express raised antiNXP2 antibodies (Moghadam-Kia et al.,
2020; Stathopoulos & Dalakas, 2022).
However, the pathogenesis of DM and
PM is still unclear.
Overall, inflammatory myopathy
may present with dysphagia in 25% to
80% of patients, and during the course
of disease, more than 60% of those with
inflammatory myopathies experience
some dysphagia (Langdon et al., 2012;
Mulcahy et al., 2012; Williams et al.,
2003). Williams et al. (2003) reported
radiographic abnormalities in 69% of 13
myositis patients studied. During videofluoroscopy, 8 of 13 aspirated and 9
of 13 had an obstructive PES. Approximately half of myositis patients also
demonstrate pharyngeal weakness on
manometry (Langdon et al., 2011; Williams et al., 2003). Mulcahy et al. (2012)
studied 18 patients with inflammatory
myopathy and found overall, 78% of
patients had abnormalities on videofluoroscopy, including all of those with
IBM (n = 8). Azola et al. (2020) studied
23 myositis patients with VFSS and
demonstrated significantly shorter
duration of airway closure and UES
opening compared to healthy subjects.
Cox et al. (2009) studied 43 patients
with IBM and 79% showed abnormal
fluoroscopic swallows. Fluoroscopy
exhibits abnormal pharyngeal propulsion in > 75% of IBM patients, with
residue in the pharynx and impaired
cricopharyngeal function (Stathopoulos & Dalakas, 2022). Upper esophageal
sphincter opening was significantly
reduced compared with neurogenic
controls and age-matched healthy controls in a study by Williams et al. (2003).
This was demonstrated well on videofluoroscopy, as was aspiration in those
affected patients. Aspiration was seen
in 20% of 15 IBM patients and CP dys-
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function seen in 37% to 47% in other
studies (Stathopoulos & Dalakas, 2022).
Cox et al. (2009) also found that 37% of
patients with inflammatory myositis
demonstrated UES dysfunction, with
8 of 43 demonstrating a diverticulum.
Other DSS findings separating myositis from central neurological disorders have been debated. Williams et
al. (2003) found that there was preservation of normal timing sequences
and pharyngeal transit times in their
cohort of 13 patients, while Ebert (2009)
reported prolonged pharyngeal transit
times. Pooling of bolus in the piriform
fossae, reduced tongue base excursion, repeated swallows, and impaired
hyolaryngeal elevation have also been
described on DSS performed in those
suffering from inflammatory myopathy, especially IBM, and dysphagia may
be the initial presenting symptom in
IBM patients (Cox et al., 2009; Langdon
et al., 2012; Mulcahy et al., 2012; Stathopoulos & Dalakas, 2022). When there is
prolonged outlet obstruction at the PES,
the proximal pharynx may respond in
a number of ways
— increased muscle
effort, pharyngeal dilatation, or “blow
out” with formation of a hypopharyngeal diverticulum (Cox et al., 2009;
Mulcahy et al., 2011; Williams et al.,
2003). Pharyngeal dilatation can be
measured on DSS with the pharyngeal
constriction ratio (PCR), and a diverticulum is readily diagnosed on fluoroscopy (Figure 16–1).
The diagnosis of inflammatory myopathy can be difficult and requires muscle biopsy, often leading to significant
diagnostic delay (>4 years). As dysphagia may be the initial presenting
symptom, DSS may provide vital clues
to diagnosis in this group of patients
16. NEUROGENIC DYSPHAGIA
Figure 16–1. Lateral videofluoroscopic view
of pharynx mid
bolus outlining a moderately obstructive
cricopharyngeal bar and elevated pharyngeal constriction ratio in a patient with
inclusion body myositis.
swallow demonstrating
and swallowing clinicians may be
the first to raise the possibility of the
diagnosis. In a series of 529 cases of
oropharyngeal dysphagia reported by
Williams et al. (2003), only 5.7% were
attributed to myopathy. Although they
are a small patient group, treatment of
the underlying disorder may improve
muscle function and assist in resolution
of dysphagic symptoms, and therefore
this diagnosis should be considered in
all patients with unexplained oropharyngeal dysphagia.
IBM remains refractory to current
anti-inflammatory treatments that assist in other myopathies (such as corticosteroids, azathioprine, methotrexate, and intravenous immunoglobulin
[IVIG]), possibly due to the degenerative component, and therefore, treatment may need to be symptomatic.
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DYSPHAGIA ASSESSMENT AND TREATMENT PLANNING: A TEAM APPROACH
However, IBM patients often respond
very well to direct treatment of the
UES such as cricopharyngeal dilation
or myotomy (Naddaf et al., 2018; Williams et al., 2003).
Muscular Dystrophies
Dystrophies are a disparate group of
inherited diseases directly affecting
muscle function with weakness of the
affected muscle group and progressive fibrosis within the muscle. Often
presenting in early childhood or at
birth, the clinical course can be severe
depending on subtype. Duchenne MD,
Becker MD, myotonic MD, oculopharyngeal MD (OPMD), facioscapulohumeral dystrophy (FSHD), and spinal
muscular atrophy (SMA) are all associated with swallowing impairments.
Duchenne Muscular
Dystrophy (DMD)
DMD, the most common muscular
dystrophy, is a lethal X-linked recessive, inherited neuromuscular disease
wherein the genetic defect prevents
the production of the normal muscle
protein, dystrophin, that is crucial to
myofiber structure. At least one third of
DMD patients complain of dysphagia,
which may be progressive; however,
the prevalence of dysphagia in this
patient group is likely underestimated
(Birnkrant et al., 2018; Toussaint et al.,
2016). Treatment primarily requires
high-dose glucocorticoids, which leads
to nutritional abnormalities and can
promote gastroesophageal reflux compounding pharyngeal muscle weakness
(Birnkrant et al., 2018).
DMD sufferers demonstrate oral
and pharyngeal phase muscle weakness leading to poor bolus control,
pharyngeal residue, and postswallow
penetration and aspiration (GonzálezFernández et al., 2008; Toussaint et
al., 2016). They also show decreased
tongue pressures impairing oral control (Hamanaka-Kondoh et al., 2014).
Choking may become more common
with age, and dietary modifications are
often implemented to make swallowing
easier. PES opening and hyoid displacement are typically normal. Respiratory
muscle weakness may contribute to
poor lung clearance, making aspiration
more significant in these patients, and
should be an indication for early DSS
assessment. Poor swallowing metrics
correlate with respiratory measures,
and as respiratory problems worsen,
there is likely difficulty in the breatheswallow coordination that promotes
choking or misdirection of bolus.
Oculopharyngeal
Muscular Dystrophy
Oculopharyngeal muscular dystrophy
(OPMD) is an adult-onset, progressive,
genetic degenerative muscular dystrophy resulting in ptosis, limb weakness,
and dysphagia. Abnormal expansion of
alanine-encoding trinucleotide repeats
in the poly-adenosine binding protein
nuclear 1 (PABPN1) gene is the primary
cause (Yamashita, 2021). Diagnosis is
through genetic testing (DNA sequencing) and muscle biopsy/EMG testing
to rule out other neuromuscular disorders. Recent findings of consistent fatty
replacement of target muscles (tongue,
pharyngeal constrictors, thigh adductor, hamstring) on MRI offer a potential
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383
new noninvasive diagnostic method,
and tongue fatty infiltrate correlated
with worse swallowing parameters
(Melkus et al., 2022; Yamashita, 2021).
Patients with OPMD may compensate for ptosis by neck extension, which
can compound swallowing difficulty.
Patients experience prolonged mealtimes and solid and dry food dysphagia followed by liquid dysphagia as the
disease progresses (Manjaly et al., 2011;
Yamashita, 2021).
Videofluoroscopic examination plays
an important role in assessment and surveillance of OPMD. DSS will identify
poor tongue base retraction, reduced
pharyngeal constriction (96%), incomplete airway closure, hyoid kinematic
changes, UES dysfunction (45%), residue
(77%–90%), and pharyngeal changes
due to prolonged outlet obstruction
(Tabor et al., 2018; Waito et al., 2018).
In a study of 48 OPMD patients utilizing VFSS, all showed abnormal residue in the pharynx and 19% aspirated
(Kroon et al., 2020). Furthermore, 27%
of participants reported difficulty with
speaking. Disease duration (odds ratio
[OR] = 1.11) and postswallow residue
(OR = 4.03) predicted aspirators (Kroon
et al., 2020). An alternative study reported manometric changes including
simultaneous contractions, incomplete
LES relaxation, and impaired UES pressures (Yamashita, 2021). These findings
may assist in targeted treatment planning, particularly in determining timing of cricopharyngeal intervention, as
early intervention may prevent pharyngeal dilatation and failure, formation of
hypopharyngeal pseudodiverticula, or
respiratory complications. DSS is crucial in evaluating pharyngeal phase
dysfunction, particularly pharyngeal
weakness through the validated pharyngeal constriction ratio.
In OPMD, the cricopharyngeus
muscle dysfunction may be targeted
through behavioral therapy, balloon
dilation, botulinum toxin injection, and
cricopharyngeal myotomy. Manjaly et
al. (2011) reviewed nine patients with
OPMD treated by repeat bougienage.
The average number of dilatations per
patient was seven. All patients reported
subjective improvement in swallow
disability (as measured by the Sydney
Swallowing Questionnaire) and there
were no adverse reactions to dilatation.
Novel treatment of autologous myoblast transplantation to the CP muscle
has shown promising results in Phase
I trials, and further results are awaited
(Yamashita, 2021).
Myotonic Dystrophy
Myotonic dystrophy (DM1) is the most
common inherited muscular dystrophy worldwide and can begin at any
age. It is characterized by myotonia
or prolonged muscle contractions,
fatigue, and progressive muscle wasting and weakness. The disease affects
multiple systems, including cardiac
and pulmonary, but also endocrine and
cognitive functioning, gastrointestinal
symptoms, and even cataracts (Wood et
al., 2017). A repeat expansion of triplet
CTG in the dystrophia myotonia-protein
kinase (DMPK) gene on chromosome
19 is responsible (Wood et al., 2017).
Asevere congenital form (CDM) results
in hypotonia at birth, respiratory failure, and difficulty sucking and swallowing (Berggren et al., 2018).
All forms of DM1 are associated
with dysphagia (25%–80%). The UK
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