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Oculopharyngeal muscular dystrophy (OPMD) is a rare myopathic disease that results in progressive degeneration of the oral and pharyngeal muscular, resulting in severe dysphagia and dysarthria. OPMD is considered a rare disease; therefore, limited research is available on the natural progression of the disease or the utility of biomarkers to identify swallowing impairment. The aim of this study is:
Participants will be recruited from the Neurology clinic at the University of Florida. The single evaluation will occur in the PIs research laboratory at the University of Florida, Gainesville, Florida.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Screening | Participants enrolled will undergo testing of the swallowing mechanism |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Videofluoroscopic swallowing study | Procedure | Videofluoroscopic swallowing study will be performed to measure the oropharyngeal swallowing. |
|
| Measure | Description | Time Frame |
|---|---|---|
| Dynamic Imaging Grade of Swallowing Toxicity | Global Metric of swallowing Safety and Efficiency | Baseline |
| Measure | Description | Time Frame |
|---|---|---|
| Dietary intake as confirmed by Functional Oral Intake Scale (FOIS) | FOIS is a validated 7-point scale indexing an individual's ability to intake food on a day-to-day basis. TUBE DEPENDENT (levels 1-3) No oral intake Tube dependent with minimal/inconsistent oral intake Tube supplements with consistent oral intake TOTAL ORAL INTAKE (levels 4-7) Total oral intake of a single consistency Total oral intake of multiple consistencies requiring special preparation Total oral intake with no special preparation, but must avoid specific foods or liquid items Total oral intake with no restrictions |
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Inclusion Criteria:
Exclusion Criteria:
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The sample population will consist of individuals with a diagnosis of oculopharyngeal muscular dystrophy.
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| Name | Affiliation | Role |
|---|---|---|
| Emily Plowman, PhD | University of Florida | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University of Florida | Gainesville | Florida | 32610 | United States |
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| ID | Term |
|---|---|
| D039141 | Muscular Dystrophy, Oculopharyngeal |
| D003680 | Deglutition Disorders |
| D004401 | Dysarthria |
| ID | Term |
|---|---|
| D009136 | Muscular Dystrophies |
| D020966 | Muscular Disorders, Atrophic |
| D009135 | Muscular Diseases |
| D009140 | Musculoskeletal Diseases |
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| Functional Oral Intake Scale | Other | The Functional Oral Intake Scale (FOIS) will be used for participants to report their food intake habits. |
|
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| Eating Assessment Tool-10 | Other | The Eating Assessment Tool-10 will be used for participant reporting of swallowing system severity. |
|
|
| Baseline |
| Participant perception of swallowing related symptoms as confirmed by The Eating Assessment Tool 10 (EAT-10) | EAT-10 is a 10-item validated self-administered dysphagia severity symptom survey. Score is 0 - 40 with 0 being the best possible score and 40 the worst possible score. | Baseline |
| D009468 | Neuromuscular Diseases |
| D009422 | Nervous System Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D004935 | Esophageal Diseases |
| D005767 | Gastrointestinal Diseases |
| D004066 | Digestive System Diseases |
| D010608 | Pharyngeal Diseases |
| D010038 | Otorhinolaryngologic Diseases |
| D001184 | Articulation Disorders |
| D013064 | Speech Disorders |
| D007806 | Language Disorders |
| D003147 | Communication Disorders |
| D019954 | Neurobehavioral Manifestations |
| D009461 | Neurologic Manifestations |
| D012816 | Signs and Symptoms |
| D013568 | Pathological Conditions, Signs and Symptoms |