Presentation
In that study, after an evaluation of PABPN1 gene, the authors obtained results regarding the presence of repetitions of the base pairs ‘GCG’ present in OPMD.8 In the clinical picture discussed in the present study, ptosis started at a young age (at 36 [bjorl.org]
Fibrillations and complex repetitive discharges are often, but not invariably, present. Muscle magnetic resonance imaging shows considerable involvement of posterior calf muscles besides fatty degenerative changes in the anterior compartment. [orpha.net]
Collections of infiltrating macrophages and focal PAS-positive accumulation were also present. [slideshare.net]
Entire Body System
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Weight Loss
Since the onset of symptoms, the patient reported a weight loss of around 13kg and two episodes of pneumonia. [bjorl.org]
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Physician
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. [rarediseases.info.nih.gov]
Respiratoric
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Pharyngitis
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]
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Aspiration
Progressive dysphagia is seen in both diseases, and it may become severe and cause frequent aspiration pneumonia. [bjorl.org]
Gastrointestinal
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Progressive Dysphagia
Progressive dysphagia is seen in both diseases, and it may become severe and cause frequent aspiration pneumonia. [bjorl.org]
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Choking
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]
Jaw & Teeth
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Xerostomia
[…] 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]
Musculoskeletal
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Proximal Muscle Weakness
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]
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Neck Muscle Weakness
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]
Urogenital
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Incontinence
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]
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Urinary Incontinence
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]
Neurologic
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Facial Muscle Weakness
Lu et al. add that, in OPMD, the symptomatology begins most often in young adults, with a severe facial muscle weakness. [bjorl.org]
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Confusion
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]
Treatment
You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]
However, medical or surgical treatments can be carried out in order to improve the patient's quality of life. [bjorl.org]
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
Prognosis
Prognosis The progression is benign and life expectancy is normal although the fine motor hand skills are usually lost. Homozygotes exhibit earlier onset, faster progression, and patients become wheelchair-bound by the age of 50 years. [orpha.net]
Etiology
Etiology WDM is caused by a missense change (c.1362G A; p.E384K) in TIA1 gene (2p13) which encodes nucleolysin TIA1 isoform p40, a key component of stress granules (SGs). [orpha.net]
[…] genetic testing Genetic etiology is informative for diagnosis, genetic counseling and increasingly to guide therapy 54. [slideshare.net]
Epidemiology
Summary Epidemiology Distal myopathy, Welander type (WDM) prevalence is unknown. [orpha.net]