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123 Possible Causes for Nasal Voice, Vacuolization

  • Oculopharyngodistal Myopathy

    Muscular dystrophy changes with rimmed vacuoles were the main histopathological changes.[ncbi.nlm.nih.gov] Eleven of his relatives, over a period of three generations, had ptosis, dysphagia, nasal voice and difficulty in walking.[scinapse.io] […] disease course Weakness Masseter Facial Weakness may be severe Wasting: Orbicularis oris, Malar & Zygomatic muscles Bulbar Dysphagia: Oropharyngeal Dysarthria: Hoarse & Nasal[neuromuscular.wustl.edu]

  • Distal Myopathy

    Extremely large variations in muscle fibre diameter (the size of some fibres exceeding 200-250 microns), rimmed vacuoles, necrotic fibres invaded by macrophages, atrophic[ncbi.nlm.nih.gov] This weakness initially causes the voice to sound weak or breathy (hypophonic). Eventually, the voice becomes gurgling, hoarse, and nasal.[ghr.nlm.nih.gov] The vacuoles consisted of sarcoplasmic spaces without limiting membranes, containing granular and fibrillar material.[ncbi.nlm.nih.gov]

  • 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] Eleven of his relatives, over a period of three generations, had ptosis, dysphagia, nasal voice and difficulty in walking.[ncbi.nlm.nih.gov] Bilateral ptosis developed in the 4th and 5th decades in the three male cases, and in the 7th decade in the female, and this was followed by diplopia, nasal voice, dysphagia[ncbi.nlm.nih.gov]

  • Renpenning Syndrome 1

    […] hypercalciuric nephrocalcinosis 308990 CLCN7 16p13.3 Osteopetrosis, autosomal dominant 2 166600 Osteopetrosis, autosomal recessive 4 611490 CLDN1 3q28 Ichthyosis, leukocyte vacuoles[institutobernabeu.com]

  • Hemangioblastoma

    Microscopically, the neoplasm was seen to be composed of vascular channels associated with foamy stromal cells, containing clear cytoplasmic vacuoles.[ncbi.nlm.nih.gov] […] regurgitation and hoarseness of voice.[neurologyindia.com] Tumor was composed of numerous capillaries and stromal cells with cytoplasmic vacuolization.[ncbi.nlm.nih.gov]

  • Common Cold

    […] mechanism for the inverse association between serum 25(OH)D level and URTI. 14 The only known human cathelicidin, hCAP-18 (LL-37), enhances microbial killing in phagocytic vacuoles[dx.doi.org] The common cold is a viral infection that attacks the upper respiratory tract, including the nasal cavity, the pharynx (back of the mouth) and the larynx (voice box).[independent.co.uk] "Additionally, menthol (found in mint) may help clear nasal passages temporarily and can have a cooling effect."[buzzfeed.com]

  • Rhinoscleroma

    Deep in the dermis, vacuolated Mikulicz cells surrounded by lymphocytes and plasma cells were found.[ncbi.nlm.nih.gov] Symptoms include bleeding noses, nasal obstruction (or obstruction elsewhere in the respiratory tract), loss of the sense of smell, a hoarse voice, and thickening or numbing[dermnetnz.org] The classic histopathology consists of large vacuolated Mikuliz's cells and transformed plasma cells with Russell bodies.[ncbi.nlm.nih.gov]

  • 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] […] ophthalmoplegia (100%) Conjugate Non-restrictive Impairment greatest in upgaze No ptosis or aberrant eye movements Weakness Symmetric Severity: 4/5 Face: Mild; Eyes Mouth Voice[neuromuscular.wustl.edu] Our case suggests that posterior-dominant lower limb muscle impairment with gluteus and truncal muscle involvement and the detection of rimmed vacuoles on a muscle biopsy[ncbi.nlm.nih.gov]

  • Zebra Body Myopathy

    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] Consequently, patients with this genetic mutation often cannot lift their heads and speak with a nasal voice.[en.wikipedia.org] 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]

  • Secondary Myopathy

    Sensorimotor neuropathy Hypothyroid (amiodarone) Elevated serum CK EMG: fibs, PSWs, myotonia (choroquine), myopathic MUAPs NCS: axonal sensorimotor neuropathy Autophagic vacuoles[neurology.mhmedical.com] Some infants may have an abnormal waddling walk (gait), swallowing difficulties (dysphagia), speech difficulties (dysarthria), and a nasal tone to the voice.[rarediseases.org] Vacuoles rimmed with basophilic granules. Inclusion body myositis IBM. Vacuole filled with granules. Modified Gomori trichrome stain. Inclusion body myositis IBM.[neuropathology-web.org]

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