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54 Possible Causes for Highly Variable Severity of Muscle Weakness, Vacuolization

  • Oculo-Pharyngo-Distal Myopathy

    Muscular dystrophy changes with rimmed vacuoles were the main histopathological changes.[ncbi.nlm.nih.gov] Myopathological findings showed rimmed vacuoles with varying degrees of muscular dystrophic changes.[ncbi.nlm.nih.gov] Histological features included basophilic-rimmed vacuoles, but the typical OPMD intranuclear filaments were absent.[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] Mostly there is predominant calf weakness but in some cases the anterior tibial muscles are more severely affected.[jnnp.bmj.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] […] sibs from one of them (family LG61) revealed some clinical and laboratory findings (early involvement of the distal muscles, mildly elevated serum CK levels, and rimmed vacuoles[ncbi.nlm.nih.gov]

  • Hereditary Proximal Myopathy with Early Respiratory Failure

    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] TDP43 immunoreactivity was observed adjacent to rimmed vacuoles and in areas around cytoplasmic bodies.[bmcneurol.biomedcentral.com] : Few Distal dystrophy Rimmed vacuoles Dominant DNAJB6 7q36 10 to 50 years Legs: Distal Normal, or Slight Myopathic Vacuoles HIBM1 Dominant Desmin 2q35 25 to 40 years Legs[neuromuscular.wustl.edu]

  • Limb-Girdle Muscular Dystrophy Type 1E

    The clinical severity, age of onset, and disease progression are highly variable among the different forms of LGMD/CMD.[blueprintgenetics.com] Pathologic findings in one of the patients showed rimmed vacuoles.[ncbi.nlm.nih.gov] Muscle biopsy shows dystrophic changes with abnormal nuclei, rimmed vacuoles, and filamentous inclusions. {ECO:0000269 PubMed:23667635}.[genecards.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] variable.[neuroweb.us]

  • Myopathy

    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] Both patients demonstrated myogenic abnormalities on electromyography, multiple glycogen-containing vacuoles and undetectable muscle myophosphorylase activity on muscle biopsy[ncbi.nlm.nih.gov] Miyoshi Myopathy is distinctive in that most distal myopathies produce "rimmed vacuoles" in muscle biopsies.[jain-foundation.org]

  • 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] Recent advances in distal myopathy with rimmed vacuoles (DMRV) or hIBM: treatment perspectives.[ghr.nlm.nih.gov]

  • 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] Muscle biopsy shows dystrophic changes with abnormal nuclei, rimmed vacuoles, and filamentous inclusions.[uniprot.org]

  • 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] Dysphagia (20%) LGMD1E DES/Desmin Adulthood Mild to moderately elevated Slow Proximal weakness; Calf hypertrophy; Rimmed vacuoles Cardiomyopathy; Arrhythmia; Respiratory[now.aapmr.org]

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