Oculopharyngeal Muscular Dystrophy (OPMD)
Conditions
Keywords
Oculopharyngeal muscular dystrophy (OPMD), Natural history, Dysphagia, Eyelid ptosis, Muscle weakness, Oral health
Brief summary
The goal of this open prospective multi-disciplinary observational study of patients with OPMD at various stages of clinical manifestations is to explore the natural history of the disease in the Israeli population.
Detailed description
The the following procedures will be performed by a multidisciplinary team: Neurological and neurocognitive examination; Clinical assessment of of swallowing and severity of dysphagia; Clinical assessment of eyelid ptosis severity; Clinical assessment of respiratory muscles function; Clinical assessment of oral health
Interventions
No intervention will be studied
Sponsors
The non-profit organization for promotion of health and cure of OPMD
Sheba Medical Center
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Patients with clinical diagnosis of OPMD or patients with signs /symptoms suggestive of OPMD
Exclusion criteria
* Age \<18 years and Pregnancy
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Severity of muscle strength decline over time | 1 year | 10-meter walk test |
| Penetration/Aspiration Scale | 1 year | Penetration/Aspiration Scale (PAS) |
| Upper Margin Reflex Distance | 1 year | Upper Margin Reflex Distance |
| Lower Margin Reflex Distance | 1 year | Lower Margin Reflex Distance |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Functional Oral Intake Scale | 1 year | Functional Oral Intake Scale (FOIS) |
| Swallowing Disturbance | 1 year | Swallowing Disturbance Questionnaire (SDQ) |
| Dysphagia severity | 1 year | Yale Pharyngeal Residue Severity Rating Scale |
| Maximum Expiratory Pressure | 2 years | Maximum Expiratory Pressure (MEP) |
| Cough Peak Flow | 2 years | Cough Peak Flow (CPF) |
| Oral health | 2 years | Decayed, Missing, and Filled Teeth (DMFT) index |
Countries
Israel
Outcome results
None listed