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]

CONCLUSÃO: O presente estudo caracterizou uma amostra de pacientes com miopatias distais, corroborando que essas doenças se manifestam clinicamente de forma heterogênea. [pesquisa.bvsalud.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]

• Weight Loss

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

• Malnutrition

  The degree of dysphagia presented by the patient is an important prognostic factor of the disease, as these patients progress to malnutrition.6 The curative treatment of OPMD is still unknown. [bjorl.org]

• 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]

• Progressive Dysphagia

  […] bilateral ptosis, weakness of proximal limbs, and progressive dysphagia. [bjorl.org]

• 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]

• Neck Muscle Weakness

  […] height [ more ] 0000218 Mildly elevated creatine kinase 0008180 Minicore myopathy 0003789 Myalgia Muscle ache Muscle pain [ more ] 0003326 Neck muscle weakness Floppy neck 0000467 Progressive muscle weakness 0003323 Scoliosis 0002650 Talipes cavus equinovarus [rarediseases.info.nih.gov]

• 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]

• 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]

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 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]

The characterization and division between groups aims to make the investigation easier, and should be done with complementary tests, considered essential to establish the etiological diagnosis of these diseases [pesquisa.bvsalud.org]

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]

Summary Epidemiology Distal myopathy, Welander type (WDM) prevalence is unknown. [orpha.net]

[2] Most affected people remain mobile throughout life.[1][2] Life expectancy is normal.[1] Laing distal myopathy is caused by mutations in the MYH7 gene and is inherited in an autosomal dominant fashion.[1][2] Treatment may include physiotherapy to prevent [rarediseases.info.nih.gov]