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The goal of this observational study is to explore whether oral health and saliva viscosity and composition in Oculopharyngeal Muscular Dystrophy (OPMD) is different from control subjects.
The main questions it aims to answer are:
Do swallowing disturbances in OPMD adversely affect oral health? Is saliva thickness (viscosity) is increased in OPMD? Does saliva in OPMD contains biochemical markers of the disease?
The objectives of this observational study is to investigate oral health, saliva rheology and explore biochemical markers in OPMD. specifically to determine if anecdotal reports of "thick saliva" represent a previously unrecognized manifestation of the disease.
Oculo-pharyngeal muscular dystrophy (OPMD) is a rare, late-onset, hereditary (OMIM 164300) progressive degenerative muscle disease characterized by oro-pharyngeal dysphagia and eyelid ptosis and skeletal muscle weakness.
Oro-pharyngeal dysphagia is associated with impaired oral health in elderly patients in general, in patients with neurodegenerative diseases and in Parkinson's disease. Yet, oral health in OPMD has not been explored so far. Additionally, a notion in one report that more than half of patients with OPMD complained about "having thick saliva" has not triggered further research of saliva properties in OPMD.
OPMD patients enrolled in IsrOPMD registry at the multidisciplinary OPMD service at the Sheba Medical Center will be offered to participate in the study. Unaffected spouse or household member of each patient will be offered to serve as a control. Subjects younger than 18 years of age and those with any condition that may affect a composition of saliva were excluded from this study.
All study subjects will proceed a thorough stomatological examination documenting the number of decayed, missing and filled teeth (DMFT index), dryness of oral mucosa, presence of tongue coating, atrophic papillae, cleft or geographic tongue, gingival inflammation and gross saliva secretion, unstimulated whole saliva flow rate and saliva viscosity. Untargeted metabolomic analysis of the saliva will be performed.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Patients | Patients with OPMD | ||
| Control | Unaffected spouse or household member without OPMD |
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| Measure | Description | Time Frame |
|---|---|---|
| Saliva Viscosity | Viscosity of unstimulated whole saliva | Upon enrollment in the study |
| Measure | Description | Time Frame |
|---|---|---|
| Oral health indices | DMFT, presence of tongue coating, clinical appearance of saliva and saliva-related complains | Upon enrollment in the study |
| Measure | Description | Time Frame |
|---|---|---|
| Concentration of Metabolites in saliva | Differences in concentration of metabolites in unstimulated whole saliva of patients and control groups. | Upon enrollment in the study |
Inclusion Criteria:
Exclusion Criteria:
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The Patients group: consisted OPMD patients enrolled in IsrOPMD registry at the multidisciplinary OPMD service at the Sheba Medical Center. The Control group: patients' spouse or household member without OPMD.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Naama Study coordinator | Contact | +972 55 2929006 | opmd@sheba.health.gov.il |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Sheba Medical Center | Recruiting | Ramat Gan | Israel |
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| ID | Term |
|---|---|
| D039141 | Muscular Dystrophy, Oculopharyngeal |
| ID | Term |
|---|---|
| D009136 | Muscular Dystrophies |
| D020966 | Muscular Disorders, Atrophic |
| D009135 | Muscular Diseases |
| D009140 | Musculoskeletal Diseases |
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Unstimulated whole saliva
| D009468 | Neuromuscular Diseases |
| D009422 | Nervous System Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |