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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[] 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[] Symptoms may include: difficulty swallowing (dysphagia) tongue weakness and atrophy weakness in the proximal muscles drooping eyelids (ptosis) difficulty gazing upwards and[]

  • Oculo-Pharyngo-Distal Myopathy

    Muscular dystrophy changes with rimmed vacuoles were the main histopathological changes.[] Less frequently, but important diagnostically, is the presence of a dropped head syndrome indicative of selective neck extensor muscle weakness.[] […] muscles Bulbar Dysphagia: Oropharyngeal Dysarthria: Hoarse & Nasal voice Tongue weakness Limbs Legs Arms Distal: Anterior tibial; Finger extensors Onset: 5 years after disease[]

  • Amyotrophic Lateral Sclerosis

    Cytoplasmic vacuoles were found in the remaining anterior horn motor neurons of the lumbar spinal cord.[] 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[] […] movement of the facial muscles and tongue; and weak palatal movement.[]

  • Congenital Myopathy with Excess of Thin Filaments

    Vacuolated muscle fibers c. Either i.[] , 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[] Autophagic vacuoles, tubulofilamentous aggregates and paired helical filaments have occasionally been seen in DRM. [14], [24], [25] Similar morphological features and a variety[]

  • Hereditary Proximal Myopathy with Early Respiratory Failure

    TDP43 immunoreactivity was observed adjacent to rimmed vacuoles and in areas around cytoplasmic bodies.[] 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.[] 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[]

  • Distal Myopathy Type 3

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

  • Nemaline Myopathy Type 4

    Congenital muscular dystrophy Congenital myasthenic syndrome Congenital myopathy Desminopathy Distal ABD-filaminopathy Distal anoctaminopathy Distal myopathy with rimmed vacuoles[] , neck, and limbs.[] 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.[]

  • 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.[] Patients usually present in the first year of life with profound neck muscle weakness, dropped head, and elevated serum creatine kinase.[] Additional symptoms may occur including overgrowth (hypertrophy) of the muscles of the legs, an abnormally enlarged tongue (macroglossia), weakness and wasting (atrophy) of[]

  • Sarcotubular Myopathy

    The vacuoles are similar to those described in sarcotubular myopathy. TRIM32 sequencing revealed the common c.1459G A mutation at homozygosity.[] Symptoms of Sarcotubular myopathy Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of head or neck Mask-like facies Neck flexor weakness Weakness[] 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[]

  • 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[] Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported.[] 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[]

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