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]

• Weakness

  Early symptoms include weakness in the feet and ankles, followed by weakness in the hands and wrists. Weakness in the feet leads to tightening of the Achilles tendon, an inability to lift the big toe, and a high-stepping walk. [rarediseases.info.nih.gov]

  As for the pattern of weakness distribution, seven had an exclusive distal pattern, while eight had a distal-proximal pattern. [pesquisa.bvsalud.org]

  Respiratory muscle involvement is common, but sensorineural hearing loss, asymmetrical extremity weakness and severe proximal weakness are rare. [orpha.net]

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

• Weight Loss

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

• Falling

  At age 57 years, the patient had trouble raising his right arm and also opening his right hand, which was in a “claw” position, in addition to a general weakness of his legs that resulted in several falls (Fig. 3). [bjorl.org]

• 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]

• Aspiration

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

• Pneumonia

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

• Dysphagia

  The patient was assessed regarding his dysphagia complaints. [bjorl.org]

  Oculopharyngodistal myopathy Disease definition A rare, genetic neuromuscular disease characterized by progressive external ocular, facial and pharyngeal muscle weakness, leading to variable degrees of ptosis, ophthalmoparesis, facial muscle atrophy, dysarthria and dysphagia [orpha.net]

• Progressive Dysphagia

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

• 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]

• Myopathy

  MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy. Neuromuscul Disord. 2007;17:321–9. [ncbi.nlm.nih.gov]

  Title Other Names: Laing early-onset distal myopathy; Myopathy distal, type 1 Categories: This disease is grouped under: Myosinopathies Summary Summary Laing distal myopathy is a slowly progressive muscle disorder that tends to begin in childhood. [rarediseases.info.nih.gov]

  Due to the scarcity of studies that described clinically the distal myopathies, this study focuses on clinical characterization of myopathies with distal pattern of weakness. [pesquisa.bvsalud.org]

  (disorder) / 764859001 myopathie distale avec atteinte initiale des membres supérieurs type finlandais Distal myopathy type 3 SNOMEDCT-BE (disorder) / 763718009 SNOMEDCT-BE (disorder) / 763718009 myopathie distale tardive type Markesbery-Griggs ZASP [wordscope.com]

  Oculopharyngodistal myopathy – a possible association with cardiomyopathy. Neuromuscul Disord, 21 (2011), pp. 121-125 [6] H.G. Pellerin, C.A. NicoTrépanier, M.R. Lessard. [bjorl.org]

• 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]

  Respiratory muscle involvement is common, but sensorineural hearing loss, asymmetrical extremity weakness and severe proximal weakness are rare. [orpha.net]

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

  The patient had great functional limitation for walking from a year and a half before, muscle weakness and atrophy of the posterior muscles of both lower limbs. It was applied comprehensive rehabilitation treatment with specific objectives. [scienceopen.com]

• 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]

• 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]

• 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]

It was applied comprehensive rehabilitation treatment with specific objectives. Conclusions: After 30 treatment sessions, the objectives were achieved with a satisfactory evolution. [scienceopen.com]

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]