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51 Possible Causes for Angulated Fibers, Tongue Weakness, Vacuolization

  • Oculo-Pharyngo-Distal Myopathy

    Before genetic testing was available, the diagnosis was based on muscle biopsy, which demonstrates rimmed vacuoles within the muscle fibers, small angulated fibers, and intranuclear[webeye.ophth.uiowa.edu] Muscular dystrophy changes with rimmed vacuoles were the main histopathological changes.[ncbi.nlm.nih.gov] […] 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

    Histologic studies of slightly affected muscles reveal mild myogenic changes, occasional rimmed vacuoles, and small angulated fibers.[ncbi.nlm.nih.gov] 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] 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

    Non-specific esterase: Neuromuscular junctions, myotendinous junctions, phagocytic areas, small angulated denervated fibers positive.[sites.google.com] Tubulofilamentous inclusion, myeloid bodies, and autophagic vacuoles in the area corresponding to rimmed vacuoles ( d ; bar 1 μm).[karger.com] Yonsei Medical Journal. 2013; 54(3): 578-582 [Pubmed] 7 Distal myopathy with rimmed vacuoles and inflammation: A genetically proven case Kannan, M.A. and Challa, S. and Urtizberea[neurologyindia.com]

  • Progressive Bulbar Palsy

    The striated muscles show neurogenic atrophy, characterized by clumps of pyknotic nuclei, small and large group atrophy, scattered angulated atrophic fibers, and fiber type[emedicine.medscape.com] Clinical manifestations include dysarthria, dysphagia, facial weakness, tongue weakness, and fasciculations of the tongue and facial muscles.[icd9data.com] A motor neuron disease marked by progressive weakness of the muscles innervated by cranial nerves of the lower brain stem.[ebi.ac.uk]

  • Limb-Girdle Muscular Dystrophy

    angulated fibers Fiber type groups: Scattered Milder patients: May be normal Myofibrillar myopathy 3 (MFM3) Myotilin (Titin immunoglobulin domain protein (TTID); MYOT) 19[neuromuscular.wustl.edu] […] pathology Vacuoles/ultrastructure Substances Chromatin LMNA protein, human Lamin Type A MyoD Protein MyoD1 myogenic differentiation protein PAX7 Transcription Factor PAX7[ncbi.nlm.nih.gov] Involvement of the heart, respiratory muscles or tongue. (Facial weakness is not usual.)[patient.info]

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy

    Myofibers were round and varying in diameter with evidence of internal nuclei, myophagocytosis, splitting and few angulated atrophic fibers giving an impression of muscular[aeronline.org] Histopathology of skeletal muscles biopsies showed typical dystrophic changes with many rimmed vacuoles.[ncbi.nlm.nih.gov] Involvement of the heart, respiratory muscles or tongue. (Facial weakness is not usual.)[patient.info]

  • Limb-Girdle Muscular Dystrophy Type 1G

    Scattered groups of small atrophic angulated fibers were also observed ( Figure 4a ).[doi.org] Patients may have prominent tongue hypertrophy and severe weakness and wasting of upper arms, neck flexors, and axial muscles; these features can help in distinguishing this[emedicine.medscape.com] Skeletal muscle biopsy shows myopathic changes and prominent rimmed vacuoles.[mendelian.co]

  • Hyaline Body Myopathy

    All biopsies showed "myopathic" changes, angulated neurogenic fibers, and fiber type grouping.[ncbi.nlm.nih.gov] Enzyme histochemistry or immunostaining for these sarcolemmal proteins demonstrate strikingly numerous cytoplasmic vacuoles in Danon disease and X-linked myopathy with excessive[basicmedicalkey.com] Eye closure was weak, but the other facial muscles functioned normally, as did the tongue and pharyngeal muscles.[docslide.com.br]

  • Secondary Myopathy

    fibers, moderate variations in myofiber diameter, centrally displaced nuclei, ring fibers, scattered atrophic fibers, nuclear chains, increase in endomysial tissue, and type[chanrejournals.com] Sensorimotor neuropathy Hypothyroid (amiodarone) Elevated serum CK EMG: fibs, PSWs, myotonia (choroquine), myopathic MUAPs NCS: axonal sensorimotor neuropathy Autophagic vacuoles[neurology.mhmedical.com] (ie, tongue and pharyngeal weakness) is manifested by symptoms of dysarthria and dysphagia.[sites.google.com]

  • Fazio-Londe Disease

    The striated muscles show neurogenic atrophy, characterized by clumps of pyknotic nuclei, small and large group atrophy, scattered angulated atrophic fibers, and fiber type[emedicine.medscape.com] Clinical manifestations include dysarthria, dysphagia, facial weakness, tongue weakness, and fasciculations of the tongue and facial muscles.[malacards.org] Engelsk definition A motor neuron disease marked by progressive weakness of the muscles innervated by cranial nerves of the lower brain stem.[mesh.kib.ki.se]

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