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36 Possible Causes for Highly Variable Severity of Muscle Weakness, Tongue Weakness, Vacuolization

  • Oculo-Pharyngo-Distal Myopathy

    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] Myopathological findings showed rimmed vacuoles with varying degrees of muscular dystrophic changes.[ncbi.nlm.nih.gov]

  • Distal Myopathy Type 3

    The severity and disease course is highly variable, but individuals usually present in infancy or early childhood.[mayomedicallaboratories.com] Tubulofilamentous inclusion, myeloid bodies, and autophagic vacuoles in the area corresponding to rimmed vacuoles ( d ; bar 1 μm).[karger.com] (ie, tongue and pharyngeal weakness) is manifested by symptoms of dysarthria and dysphagia.[sites.google.com]

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy

    Clinical severity, age of onset, and disease progression are highly variable among the different forms of LGMD/CMD.[blueprintgenetics.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]

  • Hereditary Proximal Myopathy with Early Respiratory Failure

    TDP43 immunoreactivity was observed adjacent to rimmed vacuoles and in areas around cytoplasmic bodies.[bmcneurol.biomedcentral.com] Disease severity is highly variable. FSHD is differentiated from HMERF by the absence of early respiratory failure, and the presence of facial weakness.[ncbi.nlm.nih.gov] 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]

  • Limb-Girdle Muscular Dystrophy Type 1E

    Pathologic findings in one of the patients showed rimmed vacuoles.[ncbi.nlm.nih.gov] The clinical severity, age of onset, and disease progression are highly variable among the different forms of LGMD/CMD.[blueprintgenetics.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]

  • Polyglucosan Body Myopathy Type 2

    The severity and disease course is highly variable, but individuals usually present in infancy or early childhood.[mayomedicallaboratories.com] ; DMRV; Nonaka myopathy; Rimmed vacuole myopathy; Quadriceps Sparing Myopathy; GNE myopathy "OMIM Entry # 605820 - Nonaka Myopathy" .[en.wikipedia.org] (ie, tongue and pharyngeal weakness) is manifested by symptoms of dysarthria and dysphagia.[sites.google.com]

  • Hyaline Body Myopathy

    Despite similar histological findings, the clinical severity and age of onset are highly variable, ranging from no weakness to severe impairment of ambulation, and usually[gu.se] 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]

  • Limb-Girdle Muscular Dystrophy Type 1F

    The clinical severity, age of onset, and disease progression are highly variable among the different forms of LGMD/CMD.[blueprintgenetics.com] Muscle biopsy shows dystrophic changes with abnormal nuclei, rimmed vacuoles, and filamentous inclusions (summary by Melia et al., 2013).[ncbi.nlm.nih.gov] Involvement of the heart, respiratory muscles or tongue. (Facial weakness is not usual.)[patient.info]

  • Myopathy

    Both patients demonstrated myogenic abnormalities on electromyography, multiple glycogen-containing vacuoles and undetectable muscle myophosphorylase activity on muscle biopsy[ncbi.nlm.nih.gov] Severity and rate of progression are highly variable even within families, but GNE myopathy often leads to disability and loss of ambulation at later life.[treat-nmd.eu] General Asymmetry Distal Proximal Hereditary Face & Periocular With EOM Weakness No EOM Weakness Limb-Girdle Syndromes Focal Congenital Cranial Bulbar EOM Ptosis Tongue Trunk[neuromuscular.wustl.edu]

  • Limb-Girdle Muscular Dystrophy Type 2Q

    The clinical severity, age of onset, and disease progression are highly variable among the different forms of LGMD/CMD.[blueprintgenetics.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]

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