OPMD is an inherited neuro-muscular degenerative disease that manifests by progressive drooping of eyelids and progressive difficulty in swallowing food and fluids, changes in the voice and muscle weakness in the limbs.
The eyelid drooping (EYELID PTOSIS) appears in 92-100% of patients, usually symmetric in both eyes, but can be asymmetrical.
Because of the eyelid drooping patients try to compensate for the loss of their visual field by lifting the forehead muscles, which contributes in part to the lifting of the eyelid. As the eyelid drooping progresses attempt to maintain their visual field by upward extension of the chin.
As patients get tired towards the end of a day – the eyelid drooping increases. The constant effort on the forehead muscles may result in tension headache.
Dysphagia is a difficulty in swallowing that may present in various diseases. In OPMD there is an interruption of transferring food from the mouth to the pharynx and beyond. Patients with OPMD often feel that the food is stuck in their throat. Common complaints are coughing, choking, drooling of saliva, and spitting up when swallowing liquids or solid food and may cause aspiration pneumonia and weight loss.
The diagnosis is established by a typical history of swallowing problems and clinical examination.
Additional tests might include:
Questionnaires assessing severity of swallowing problems and related effects on nutrition;
A swallowing study, called video-fluoroscopy – in this test, different foods coated with barium are given while X-rays that are taken during the test shows the precise location of the problem;
Fiberoptic endoscopic evaluation of swallowing – in this test, a thin flexible fiberoptic endoscope tube is inserted through the mouth or nose down the throat that allows actual visualization of function of various muscles involved in swallowing mechanism. A video explaining this procedure can be viewed here.
The muscles that may be affected for OPMD sufferers are the Proximal Muscles (the muscles closest to the center of the body such as the muscles of the shoulder, pelvis, and upper arms and legs). The main effect is especially on the thigh and upper leg muscles. As the disease progresses, more distant muscles such as the arms and calves may begin to weaken as well.
Muscle weakness becomes more severe over time and patients may have difficulty with daily activities such as kneeling or walking, getting up from a sitting position, and ascending or descending stairs, some may need to use a cane or walker to move and sometimes in acute cases may need a wheelchair (about 10%).
It is important to note that weakness of the leg muscles does not match the severity of muscle weakness of the eyelids or throat and can occur early in the disease or later, eventually may appear additional symptoms including weakness and atrophy of the tongue, weakness, and degeneration of the proximal muscles of the arms. Upward looking limitation, difficulty speaking (dysphonia), and weakness of additional facial muscles.
OPMD mainly affects voluntary muscles (muscles under conscious control) and does not affect involuntary muscles like those of the heart and many other organs
