Create issue ticket

17 Possible Causes for Ptosis Is Usually Presenting Feature, Tongue Weakness, Vacuolization

  • Oculo-Pharyngo-Distal Myopathy

    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] Clinical Features Oculopharyngeal muscular dystrophy has a late onset; it usually presents in the fourth to sixth decade with ptosis and/or dysphagia.[clinicalgate.com]

  • 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] Symptoms may include: difficulty swallowing (dysphagia) tongue weakness and atrophy weakness in the proximal muscles drooping eyelids (ptosis) difficulty gazing upwards and[muscle.ca] Early signs include ptosis, limb weakness and dysphagia. Symptoms usually begin after the age of 45 years, and ptosis is the most common presenting feature.[orpha.net]

  • Fingerprint Body Myopathy

    Vacuolated muscle fibers c.[s-ibm.org] There is prominant facial weakness with ptosis, variable external ophthalmoplegia, and pharyngeal muscles weakness. The tongue is thin but no fasciculations are seen.[rrnursingschool.biz] Clinical Features Oculopharyngeal muscular dystrophy has a late onset; it usually presents in the fourth to sixth decade with ptosis and/or dysphagia.[basicmedicalkey.com]

  • Ophthalmoplegia

    Acronym MYPOP Synonyms IBM3 Inclusion body myopathy 3 Inclusion body myopathy 3, autosomal dominant Myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles[uniprot.org] […] 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] Perrault Syndrome Clinical Characteristics Ocular Features: Nystagmus and limited extraocular movements are usually present in PRLTS1.[disorders.eyes.arizona.edu]

  • Ptosis

    Before the feasibility of such tests, the diagnosis was confirmed by muscle biopsy, which shows vacuoles in the muscle fibers, small and angled fibers, as well as intranuclear[scielo.br] Myotonic dystrophy Facial weakness and ptosis Release of grip difficult Hypogonadism • Frontal baldness in males • Involvement of tongue and pharyngeal muscles • Intellectual[slideshare.net] Ptosis in the context of myasthenia gravis can present either bilaterally or unilaterally and can be difficult to distinguish from other forms of ptosis.[eyerounds.org]

  • Cerebellar Infarction

    Microscopical examination in the first 24 to 48 hours reveals anoxic neurons, pallor of staining and vacuolization of the white matter due to unraveling of myelin, and axonal[neuropathology-web.org] Weakness of the tongue is ipsilateral to the infarct. Pathology may be in vertebral artery or mesial limb of vertebral artery after PICA.[dizziness-and-balance.com] Anterior Inferior Cerebellar Artery Territory (AICA) – Middle Region Uncommon compaired to SCA and PICA infarcts Vestibular signs usually present Dysmetria common Horner’s[wikidoc.org]

  • Autosomal Dominant Spastic Paraplegia Type 13

    Specifically, spastizin is involved in the formation and maturation of sacs called autophagosomes (or autophagic vacuoles) that transport unneeded materials to be broken down[ghr.nlm.nih.gov] Synonym(s): progressive muscular dystrophy Erb disease - progressive weakness and atrophy of the muscles of the tongue, lips, palate, pharynx, and larynx, most often caused[medical-dictionary.thefreedictionary.com] Moderate to severe intellectual disability is usually present and speech may be severely delayed.[disorders.eyes.arizona.edu]

  • Autosomal Dominant Spastic Paraplegia Type 8

    Electron microscopy showed increased amount of fat vacuoles within the muscle fibres and was otherwise normal. Figure 3.[journals.plos.org] 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] The lid fissures slant downward and epicanthal folds are with ptosis are generally present. Strabismus and nystagmus are characteristic features.[disorders.eyes.arizona.edu]

  • Antenatal-Onset Multicore Myopathy with Arthrogryposis

    Vacuolated muscle fibers c. Either i.[sites.google.com] […] fasciculations Proximal weakness Tongue fasiculations: type of SMA Subtype; SMA type 2 Case: Holly Onset was age 5; toewalking Wheelchair when she was 30 Is married and has[quizlet.com] Ptosis is commonly present as well. Systemic Features: This condition has been called a mitochondrial neurogastrointestinal encephalopathy (MNGIE).[disorders.eyes.arizona.edu]

  • X-Linked Scapuloperoneal Myopathy

    [HPO:curators] Show HP:0003704 Scapuloperoneal weakness Show HP:0003715 Muscle biopsy shows myofibrillar myopathy Show HP:0003805 Rimmed vacuoles Show HP:0007340 Lower limb[manteia.igbmc.fr] (ie, tongue and pharyngeal weakness) is manifested by symptoms of dysarthria and dysphagia.[sites.google.com] Clinical Features Oculopharyngeal muscular dystrophy has a late onset; it usually presents in the fourth to sixth decade with ptosis and/or dysphagia.[basicmedicalkey.com]

Similar symptoms