Saliva Composition in Oculo-Pharyngeal Muscular Dystrophy (OPMD)

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.