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The investigators aimed to review the natural history of dysphagia and dysphonia in OPMD in order to identify the best candidates and the proper timing to perform dysphagia alleviating procedures in both heterozygote and homozygote patients from the large pool of cases with this disease in Israel.
Clinical evaluation of patients suspected of having OPMD. Genetic confirmatory tests (diagnostic DNA test) at the genetic unit in Afula Hospital. Clinical follow-up with endoscopic fiber optic evaluation of swallowing. Pre-operative assessment. Crycopharyngeal myotomy intervention in selected patients. Nutrition follow-up.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Mild dysphagia | No Intervention | ||
| Severe dysphagia | Active Comparator |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Upper esophageal sphincter myotomy | Procedure | Upper esophageal sphincter release operation to allow better swallowing. The intervention is done under GA and by extra-mucosal approach. |
| Measure | Description | Time Frame |
|---|---|---|
| Dysphagia, quality of life. Proper intervention timing in OPMD based on knowledge about the natural history of the feeding difficulty. | Dysphagia, quality of life. Proper intervention timing in OPMD patients is very important and must be based on deep knowledge about the natural history of the feeding difficulty. | at least 3 years |
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Inclusion Criteria:
Exclusion Criteria:
-
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| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Sergiu C. Blumen, MD | Contact | 972-4-630-4262 |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Israel National Center for OPMD and Dysphagia, HYMC | Recruiting | POB 169, Hadera | 38100 | Israel |
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| ID | Term |
|---|---|
| D003680 | Deglutition Disorders |
| D039141 | Muscular Dystrophy, Oculopharyngeal |
| ID | Term |
|---|---|
| D004935 | Esophageal Diseases |
| D005767 | Gastrointestinal Diseases |
| D004066 | Digestive System Diseases |
| D010608 | Pharyngeal Diseases |
| D010038 | Otorhinolaryngologic Diseases |
| D009136 | Muscular Dystrophies |
| D020966 | Muscular Disorders, Atrophic |
| D009135 | Muscular Diseases |
| D009140 | Musculoskeletal Diseases |
| D009468 | Neuromuscular Diseases |
| D009422 | Nervous System Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
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