Create issue ticket

233 Possible Causes for External Ophthalmoplegia, Tongue Weakness, Vacuolization

  • Oculo-Pharyngo-Distal Myopathy

    Muscular dystrophy changes with rimmed vacuoles were the main histopathological changes.[ncbi.nlm.nih.gov] Tentative Clinical-Genetic Classification of Progressive External Ophthalmoplegia I. Childhood-onset A.[medlink.com] […] muscles Bulbar Dysphagia: Oropharyngeal Dysarthria: Hoarse & Nasal voice Tongue weakness Limbs Legs Arms Distal: Anterior tibial; Finger extensors Onset: 5 years after disease[neuromuscular.wustl.edu]

  • Oculopharyngeal Muscular Dystrophy

    In contrast, patients with distal myopathy with rimmed vacuoles revealed many rimmed vacuoles, on average in 20% of the fibers, and their oculopharyngeal muscles were spared[ncbi.nlm.nih.gov] In addition, severe external ophthalmoplegia, dysphonia, and proximal amyotrophy were prominent in this family.[ncbi.nlm.nih.gov] Symptoms may include: difficulty swallowing (dysphagia) tongue weakness and atrophy weakness in the proximal muscles drooping eyelids (ptosis) difficulty gazing upwards and[muscle.ca]

  • Distal Myopathy Type 3

    Tubulofilamentous inclusion, myeloid bodies, and autophagic vacuoles in the area corresponding to rimmed vacuoles ( d ; bar 1 μm).[karger.com] ophthalmoplegia, Multicore myopathy with external ophthalmoplegia, Multiminicore disease with external opthalmoplegia, SEPN1-related congenital muscular dystrophy, rigid[orphananesthesia.eu] (ie, tongue and pharyngeal weakness) is manifested by symptoms of dysarthria and dysphagia.[sites.google.com]

  • Tubular Aggregate Myopathy

    In hematoxylin and eosin stain, it showed subsarcolemmal, or central pale basophilic granular vacuoles, which stained red with modified Gomori's trichrome and intensive blue[ncbi.nlm.nih.gov] ophthalmoplegia.[ncbi.nlm.nih.gov] There was symmetrical wasting and weakness of the sternomastoid and trapezeus muscles, with grade 4/5 weakness on the MRC scale.[jnnp.bmj.com]

  • Hereditary Proximal Myopathy with Early Respiratory Failure

    TDP43 immunoreactivity was observed adjacent to rimmed vacuoles and in areas around cytoplasmic bodies.[bmcneurol.biomedcentral.com] Proximal myopathy and ophthalmoplegia ( MYPOP ) is a relatively mild, slowly progressive muscle disorder primarily characterized by proximal myopathy and external ophthalmoplegia[invitae.com] Other regions: Some patients Cranial nerves: Face; Tongue Posterior neck : Head ptosis Back: Camptocormia Asymmetric : Often Progression Slow: Over 1 to 2 decades To severe[neuromuscular.wustl.edu]

  • Congenital Muscular Dystrophy

    Serum creatine kinase is usually elevated and biopsied muscle fibers show dystrophic changes and increased variability in fiber size with vacuolization.[disorders.eyes.arizona.edu] ophthalmoplegia. [3], [6], [7], [8] Our patients manifested with generalized hypotonia.[pediatricneurosciences.com] Additional symptoms may occur including overgrowth (hypertrophy) of the muscles of the legs, an abnormally enlarged tongue (macroglossia), weakness and wasting (atrophy) of[rarediseases.org]

  • Ophthalmoplegia

    Acronym MYPOP Synonyms IBM3 Inclusion body myopathy 3 Inclusion body myopathy 3, autosomal dominant Myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles[uniprot.org] external ophthalmoplegia Bilateral progressive external ophthalmoplegia L progressive external ophthalmoplegia Left progressive external ophthalmoplegia Progressive external[icd9data.com] […] muscles Bulbar Dysphagia: Oropharyngeal Dysarthria: Hoarse & Nasal voice Tongue weakness Limbs Legs Arms Distal: Anterior tibial; Finger extensors Onset: 5 years after disease[neuromuscular.wustl.edu]

  • Chronic Progressive External Ophthalmoplegia

    Electron microscopy revealed focal areas of both disruption and abnormality of mitochondria in only some of the muscle fibers, producing "selective vacuolization."[ncbi.nlm.nih.gov] Two cases of chronic progressive external ophthalmoplegia were described.[ncbi.nlm.nih.gov] , tongue weakness, neck weakness, SNHL, dysphagia, proximal muscle weakness, bilateral foot drop, renal failure (glomerulonephritis), DD, hypoparathyroidism and hypogonadism[doi.org]

  • Ptosis

    Before the feasibility of such tests, the diagnosis was confirmed by muscle biopsy, which shows vacuoles in the muscle fibers, small and angled fibers, as well as intranuclear[scielo.br] ECG, EMG, mitochondrial studies and electroretinogram may be needed to exclude chronic progressive external ophthalmoplegia.[patient.info] Myotonic dystrophy Facial weakness and ptosis Release of grip difficult Hypogonadism • Frontal baldness in males • Involvement of tongue and pharyngeal muscles • Intellectual[slideshare.net]

  • Limb-Girdle Muscular Dystrophy Type 2J

    License: CC BY-SA 3.0 On histological investigation, ringed vacuoles and intranuclear inclusion are seen. There is no known therapy.[lecturio.com] ophthalmoplegia Congenital myopathy with excess of thin filaments Congenital myopathy, Paradas type Congenital short bowel syndrome Congenital valvular dysplasia Distal myopathy[csbg.cnb.csic.es] Involvement of the heart, respiratory muscles or tongue. (Facial weakness is not usual.)[patient.info]

Similar symptoms