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229 Possible Causes for Neck Muscle 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] They include: drooping muscles in your face, producing a thin, haggard look difficulty lifting your neck due to weak neck muscles difficulty swallowing droopy eyelids, or[healthline.com] Symptoms may include: difficulty swallowing (dysphagia) tongue weakness and atrophy weakness in the proximal muscles drooping eyelids (ptosis) difficulty gazing upwards and[muscle.ca]

  • Oculo-Pharyngo-Distal Myopathy

    Muscular dystrophy changes with rimmed vacuoles were the main histopathological changes.[ncbi.nlm.nih.gov] Less frequently, but important diagnostically, is the presence of a dropped head syndrome indicative of selective neck extensor muscle weakness.[accessmedicine.mhmedical.com] […] 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]

  • Amyotrophic Lateral Sclerosis

    Cytoplasmic vacuoles were found in the remaining anterior horn motor neurons of the lumbar spinal cord.[ncbi.nlm.nih.gov] Head-Up; An interdisciplinary, participatory and co-design process informing the development of a novel head and neck support for people living with progressive neck muscle[doi.org] […] movement of the facial muscles and tongue; and weak palatal movement.[merckmanuals.com]

  • Congenital Myopathy with Excess of Thin Filaments

    Vacuolated muscle fibers c. Either i.[sites.google.com] , limits flexion of neck and spine Contractions gradually give way to muscle weakness and wasting in upper and lower extremities Causes mutations in X-linked gene encoding[quizlet.com] Autophagic vacuoles, tubulofilamentous aggregates and paired helical filaments have occasionally been seen in DRM. [14], [24], [25] Similar morphological features and a variety[bioline.org.br]

  • Hereditary Proximal Myopathy with Early Respiratory Failure

    TDP43 immunoreactivity was observed adjacent to rimmed vacuoles and in areas around cytoplasmic bodies.[bmcneurol.biomedcentral.com] The first affected muscles in HMERF are the neck flexors. Other proximal muscles that become weak in people with HMERF include the muscles of the hips, thighs and arms.[ivami.com] 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]

  • Distal Myopathy Type 3

    Tubulofilamentous inclusion, myeloid bodies, and autophagic vacuoles in the area corresponding to rimmed vacuoles ( d ; bar 1 μm).[karger.com] […] of head due to neck muscle weakness (“swan neck”).[neuroweb.us] (ie, tongue and pharyngeal weakness) is manifested by symptoms of dysarthria and dysphagia.[sites.google.com]

  • Nemaline Myopathy Type 4

    Congenital muscular dystrophy Congenital myasthenic syndrome Congenital myopathy Desminopathy Distal ABD-filaminopathy Distal anoctaminopathy Distal myopathy with rimmed vacuoles[mayocliniclabs.com] , neck, and limbs.[malacards.org] People with nemaline myopathy can have weakness in their leg, arm. neck and trunk muscles, accompanied by some mild weakness of the face, tongue and throat muscles.[nemaline.org]

  • Congenital Muscular Dystrophy due to LMNA Mutation

    Restrictive cardiomyopathy with complete atrioventricular block and distal myopathy with rimmed vacuoles. Jpn Circ J 1993;57:928–933. 111.[synapse.koreamed.org] Patients usually present in the first year of life with profound neck muscle weakness, dropped head, and elevated serum creatine kinase.[mayoclinic.pure.elsevier.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]

  • Sarcotubular Myopathy

    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] Symptoms of Sarcotubular myopathy Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of head or neck Mask-like facies Neck flexor weakness Weakness[familydiagnosis.com] 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]

  • Zebra Body Myopathy

    0003236 5 limb-girdle muscular dystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0006785 6 waddling gait 59 32 hallmark (90%) Very frequent (99-80%) HP:0002515 7 rimmed vacuoles[malacards.org] Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported.[mendelian.co] 0006785 5 waddling gait 60 33 hallmark (90%) Very frequent (99-80%) HP:0002515 6 emg: myopathic abnormalities 60 33 hallmark (90%) Very frequent (99-80%) HP:0003458 7 rimmed vacuoles[malacards.org]

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