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21 Possible Causes for Bilateral Pelvic Girdle Weakness, Tongue Weakness, Vacuolization

  • 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] Symptoms may include: difficulty swallowing (dysphagia) tongue weakness and atrophy weakness in the proximal muscles drooping eyelids (ptosis) difficulty gazing upwards and[muscle.ca] The following are some of the associated symptoms of OPMD: Drooping eyelids (ptosis) Difficulty swallowing (dysphagia) Atrophy of the tongue Weakness of the muscles in the[patientworthy.com]

  • Limb-Girdle Muscular Dystrophy

    […] 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] Our case suggests that posterior-dominant lower limb muscle impairment with gluteus and truncal muscle involvement and the detection of rimmed vacuoles on a muscle biopsy[ncbi.nlm.nih.gov]

  • Steroid Myopathy

    Serum CK levels may be elevated, and a muscle biopsy may demonstrate degenerating fibers, some with vacuoles.[frontiersin.org] Some patients had atypical presentation (repeated falls in one, tongue fasciculations in one, neck weakness in five, one with ptosis and facial weakness, asymmetrical onset[annalsofian.org] Muscle biopsy can be useful in the identification of toxicity since autophagic vacuoles are prominent pathologic features of these toxins ( Klopstock, 2008 ; Cantarini et[frontiersin.org]

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy

    girdles with associated worsening thigh muscle weakness resulting in slight limitation of movement.[pubs.sciepub.com] 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 1E

    girdles with associated worsening thigh muscle weakness resulting in slight limitation of movement.[pubs.sciepub.com] Pathologic findings in one of the patients showed rimmed vacuoles.[ncbi.nlm.nih.gov] 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]

  • Limb-Girdle Muscular Dystrophy Type 2J

    girdles with associated worsening thigh muscle weakness resulting in slight limitation of movement.[pubs.sciepub.com] License: CC BY-SA 3.0 On histological investigation, ringed vacuoles and intranuclear inclusion are seen. There is no known therapy.[lecturio.com] Involvement of the heart, respiratory muscles or tongue. (Facial weakness is not usual.)[patient.info]

  • Limb-Girdle Muscular Dystrophy Type 1H

    girdles with associated worsening thigh muscle weakness resulting in slight limitation of movement.[pubs.sciepub.com] While young patients show minor pathological changes in muscle, the middle-aged and old patients show rimmed vacuoles and inclusions of filaments measuring 15–18 nm in diameter[scinapse.io] LGMD2G (telethoninopathy) This form of LGMD usually becomes apparent during childhood or adolescence and presents with muscle weakness of the upper and lower legs.[rarediseases.org]

  • Muscular Dystrophy-Dystroglycanopathy Type C3

    girdles with associated worsening thigh muscle weakness resulting in slight limitation of movement.[pubs.sciepub.com] License: CC BY-SA 3.0 On histological investigation, ringed vacuoles and intranuclear inclusion are seen. There is no known therapy.[lecturio.com] Involvement of the heart, respiratory muscles or tongue. (Facial weakness is not usual.)[patient.info]

  • Muscular Dystrophy-Dystroglycanopathy Type C1

    girdles with associated worsening thigh muscle weakness resulting in slight limitation of movement.[pubs.sciepub.com] Muscle biopsy: Similar to Duchenne muscular dystrophy Cytoplasmic changes may occur: split fibres, whorls, moth eaten fibres, lobulated fibres Hints to subtypes: GMT, Rimmed vacuoles[learningneurology.com] Involvement of the heart, respiratory muscles or tongue. (Facial weakness is not usual.)[patient.info]

  • Limb-Girdle Muscular Dystrophy Type 2L

    girdles with associated worsening thigh muscle weakness resulting in slight limitation of movement.[pubs.sciepub.com] […] syndrome (WWS) caused by a mutation in the POMT1 gene. ( 15792865 ) Balci B....Topaloglu H. 2005 8 Late-onset autosomal recessive limb-girdle muscular dystrophy with rimmed vacuoles[malacards.org] Involvement of the heart, respiratory muscles or tongue. (Facial weakness is not usual.)[patient.info]

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