Table 6. [Recommended Surveillance for Individuals with Oculopharyngeal Muscular Dystrophy]. - GeneReviews®

System/Concern	Evaluation	Frequency
Neuromuscular involvement	Neurologic exam to determine overall disease progression & presence of new findings	Per treating neurologist
Neuromuscular clinic (OT/PT/rehabilitation specialist) assessment of mobility/activities of daily living	Annually
Oculomotor involvement	Routine ophthalmologic eval to determine if ptosis interferes w/driving or is assoc w/neck pain, &/or if eyelids cover >50% of the pupil (findings that could prompt consideration of surgical intervention)	Annually
Respiratory function	Pulmonary function tests	Patients w/known pulmonary disease: per treating pulmonologist Patients w/o known pulmonary disease: annually
Nocturnal oximetry or polysomnography sleep study	Patients known to have nocturnal hypoventilation: per treating pulmonologist Patients w/o known nocturnal hypoventilation: every 2 yrs
Dysphagia	Reevaluate: For functional signs of dysphagia using VESS &/or VFSS; Nutrition status & diet.	Annually
Cognitive impairment	Evaluate mood, signs of psychosis, cognitive complaints to identify need for pharmacologic & psychotherapeutic interventions.	Per symptom progression & development of psychiatric symptoms
Social	Family support & resources	Assess need for: Use of community or online resources such as patient advocacy groups; Social work involvement for caregiver support.

System/Concern

Evaluation

Frequency

Neuromuscular
involvement

Neurologic exam to determine overall disease progression & presence of new findings

Per treating neurologist

Neuromuscular clinic (OT/PT/rehabilitation specialist) assessment of mobility/activities of daily living

Annually

Oculomotor
involvement

Routine ophthalmologic eval to determine if ptosis interferes w/driving or is assoc w/neck pain, &/or if eyelids cover >50% of the pupil (findings that could prompt consideration of surgical intervention)

Annually

Respiratory
function

Pulmonary function tests

Patients w/known pulmonary disease: per treating pulmonologist
Patients w/o known pulmonary disease: annually

Nocturnal oximetry or polysomnography sleep study

Patients known to have nocturnal hypoventilation: per treating pulmonologist
Patients w/o known nocturnal hypoventilation: every 2 yrs

Dysphagia

Reevaluate:

For functional signs of dysphagia using VESS &/or VFSS;
Nutrition status & diet.

Annually

Cognitive
impairment

Evaluate mood, signs of psychosis, cognitive complaints to identify need for pharmacologic & psychotherapeutic interventions.

Per symptom progression & development of psychiatric symptoms

Social

Family support & resources

Assess need for:

Use of community or online resources such as patient advocacy groups;
Social work involvement for caregiver support.

From: Oculopharyngeal Muscular Dystrophy

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

Seattle (WA): University of Washington, Seattle; 1993-2024.

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