Since the onset of symptoms, the patient reported a weight loss of around 13kg and two episodes of pneumonia. [bjorl.org]

The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. [rarediseases.info.nih.gov]

Homepage Rare diseases Search Search for a rare disease Oculopharyngodistal myopathy Disease definition A rare, genetic neuromuscular disease characterized by progressive external ocular, facial and pharyngeal muscle weakness, leading to variable degrees [orpha.net]

[…] repeating pattern of base pairs (“GCG”) in PABPN1 gene does not occur – a finding present in cases of OPMD.4 Among the muscle changes detected, dysphagia is the most concerning symptom, because it evidences a progressive weakening of the esophageal and pharyngeal [bjorl.org]

Progressive dysphagia is seen in both diseases, and it may become severe and cause frequent aspiration pneumonia. [bjorl.org]

Progressive dysphagia is seen in both diseases, and it may become severe and cause frequent aspiration pneumonia. [bjorl.org]

At 52 years of age, the patient reported the onset of dysphagia (choking on solid foods, need to clear his throat, and fluid intake after food intake). [bjorl.org]

[…] this patient exhibited moderate oropharyngeal dysphagia with drooling, the authors enacted a clinical management protocol that included: speech therapy for deglutition; exercises to improve oral motor skills; change in food consistency; and chemical xerostomia [bjorl.org]

muscle weakness Weakness in muscles of upper arms and upper legs 0003701 Proximal muscle weakness in lower limbs 0008994 Percent of people who have these symptoms is not available through HPO Amyotrophy of ankle musculature 0009031 Autosomal dominant [rarediseases.info.nih.gov]

neck, face, legs, hips, and shoulders) weaken. 0001288 High palate Elevated palate Increased palatal height [ more ] 0000218 Mildly elevated creatine kinase 0008180 Minicore myopathy 0003789 Myalgia Muscle ache Muscle pain [ more ] 0003326 Neck muscle [rarediseases.info.nih.gov]

At that time, the patient said that his lips began to “fall” (sic), along with possible episodes of urinary incontinence. Since the onset of symptoms, the patient reported a weight loss of around 13kg and two episodes of pneumonia. [bjorl.org]

At that time, the patient said that his lips began to “fall” (sic), along with possible episodes of urinary incontinence. Since the onset of symptoms, the patient reported a weight loss of around 13kg and two episodes of pneumonia. [bjorl.org]

Lu et al. add that, in OPMD, the symptomatology begins most often in young adults, with a severe facial muscle weakness. [bjorl.org]

In its recessive form, symptoms have a later onset are usually mild; in these cases the diagnosis becomes more difficult, and there may be confusion with symptoms of other diseases associated with aging.2 A Canadian study estimated the prevalence of OPMD [bjorl.org]