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133 Possible Causes for Asymmetric Muscle Involvement, Tongue Weakness, Vacuolization

  • Oculo-Pharyngo-Distal Myopathy

    The facial muscles are usually spared. Involvement of other muscles is extremely variable.[slideplayer.com] 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]

  • Distal Myopathy Type 3

    Tubulofilamentous inclusion, myeloid bodies, and autophagic vacuoles in the area corresponding to rimmed vacuoles ( d ; bar 1 μm).[karger.com] Muscle wasting tends to be asymmetric when the upper limbs are first involved.[icd9data.com] (ie, tongue and pharyngeal weakness) is manifested by symptoms of dysarthria and dysphagia.[sites.google.com]

  • Limb-Girdle Muscular Dystrophy Type 2L

    Later manifestations include asymmetric involvement of the proximal muscles of the lower and upper limb-girdle, with quadriceps atrophy.[egl-eurofins.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]

  • Oculopharyngeal Muscular Dystrophy

    Muscle wasting tends to be asymmetric when the upper limbs are first involved.[icd10data.com] 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]

  • Limb-Girdle Muscular Dystrophy Type 2G

    Frequent rimmed vacuoles were observed.[bmcclinpathol.biomedcentral.com] Involvement of the heart, respiratory muscles or tongue. (Facial weakness is not usual.)[patient.info] 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]

  • 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] The patients had early asymmetric muscle involvement characterized by prominent biceps brachii atrophy with sparing of the knee extensors.[ncbi.nlm.nih.gov] Involvement of the heart, respiratory muscles or tongue. (Facial weakness is not usual.)[patient.info]

  • Sarcotubular Myopathy

    In proximal weakness, muscles involved were iliopsoas, hip adductors, hamstrings, and quadriceps. Upper limbs were slightly affected.[annalsofian.org] The vacuoles are similar to those described in sarcotubular myopathy. TRIM32 sequencing revealed the common c.1459G A mutation at homozygosity.[ncbi.nlm.nih.gov] 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]

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy

    Muscle wasting tends to be asymmetric when the upper limbs are first involved.[icd10data.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

    involved: TA, EDL, Gastrocnemius, Gluteus medius; TFL Arms: Hands Distal Abductor pollicis; Opponens policis; 1st Dorsal interossei; Abductor digiti minimi Asymmetric Intrafamilial[neuromuscular.wustl.edu] TDP43 immunoreactivity was observed adjacent to rimmed vacuoles and in areas around cytoplasmic bodies.[bmcneurol.biomedcentral.com] ; DMRV; Nonaka myopathy; Rimmed vacuole myopathy; Quadriceps Sparing Myopathy; GNE myopathy "OMIM Entry # 605820 - Nonaka Myopathy".[en.wikipedia.org]

  • Glycogen Storage Disease Type 2

    However, the asymmetrical distribution of muscle weakness, the relatively common involvement of the distal muscles of the lower limbs, and the absence of severe or relatively[ojrd.com] At juvenile onset, a more moderate vacuolization without significant differences in overall morphology is notable.[ncbi.nlm.nih.gov] Jones, Expanding the phenotype of late‐onset pompe disease: Tongue weakness: A new clinical observation, Muscle & Nerve, 44, 6, (897-901), (2011).[dx.doi.org]

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