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186 Possible Causes for Myopathic Facies, Presynaptic Defect at the Neuromuscular Junction

  • Lambert Eaton Myasthenic Syndrome

    A c.923C T variant affecting an adjacent residue (p.Pro308Leu) produced a presynaptic neuromuscular junction defect and a dominant hereditary motor neuropathy in a second[ncbi.nlm.nih.gov] Classification of congenital myasthenic syndrome Usually classified according to the defective site of the neuromuscular junction, it is often divided into presynaptic, synaptic[intechopen.com] Lambert–Eaton myasthenic syndrome (LEMS) is also an autoimmune disorder of the neuromuscular junction, but differently from MG, the defect of transmission is presynaptic type[ncbi.nlm.nih.gov]

  • Secondary Myopathy

    Drooling, tearing, sleep with eyes open, myopathic facies, inability to whistle, blow balloons Difficulty chewing, jaw weakness Tongue weakness - dysarthria, dysphagia, swallowing[sites.google.com]

    Missing: Presynaptic Defect at the Neuromuscular Junction
  • Facioscapulohumeral Muscular Dystrophy

    facies, eyelids that remain partly open in sleep, and inability to whistle or to purse the lips (tapir mouth).[whonamedit.com] Begins with weakness of the muscles of the face and shoulder girdle, causing inability to raise the arms above the head (in female, noticed while combing hair), myopathic[whonamedit.com]

    Missing: Presynaptic Defect at the Neuromuscular Junction
  • Myasthenia Gravis

    A 28-year-old female patient came to the outpatient dental clinic for multiple teeth extractions and full mouth rehabilitation suffer from myasthenia gravis (MG) primary presentation as tongue atrophy and facial muscles weakness and the symptoms became worries, the patient unable to speak as well and change her[…][ncbi.nlm.nih.gov]

    Missing: Presynaptic Defect at the Neuromuscular Junction
  • Congenital Muscular Dystrophy Type 1A

    He had joint contractures of upper and lower extremities, myopathic facies, and pectus carinatum. His head circumference was normal.[pediatricneurosciences.com] Case 2 represented a 6 month old girl suffering from congenital hypotonia, proximal limb girdle weakness, myopathic facies and normal head circumference.[cags.org.ae] He had general hypotonia, myopathic facies, pectus excavatum, and he was not able to sit and stand. Deep tendon reflexes and Babinski's sign were negative.[pediatricneurosciences.com]

    Missing: Presynaptic Defect at the Neuromuscular Junction
  • Native American Myopathy

    facies 0002058 Ptosis Drooping upper eyelid 0000508 Restrictive deficit on pulmonary function testing 0002111 Short palpebral fissure Short opening between the eyelids 0012745[rarediseases.info.nih.gov] facies with generalized weakness, ptosis, normal extraocular movements, cleft palate, growth delay, and kyphoscoliosis.[jhu.pure.elsevier.com] […] affected older sister are from a consanguineous Qatari family with a suspected clinical diagnosis of Carey–Fineman–Ziter syndrome (CFZS) based on features of hypotonia, myopathic[ingentaconnect.com]

    Missing: Presynaptic Defect at the Neuromuscular Junction
  • Myosin Storage Myopathy

    […] abnormalities ; Elevated serum creatine phosphokinase ; High palate ; Hypertrophic cardiomyopathy ; Myopathic facies ; Respiratory insufficiency ; Scapuloperoneal amyotrophy[mousephenotype.org] facies 0002058 Scoliosis Abnormal curving of the spine 0002650 Percent of people who have these symptoms is not available through HPO Abnormality of the cardiovascular system[rarediseases.info.nih.gov] […] genetic, neurological Phenotypes Autosomal recessive inheritance ; Centrally nucleated skeletal muscle fibers ; Congestive heart failure ; Dilated cardiomyopathy ; EMG: myopathic[mousephenotype.org]

    Missing: Presynaptic Defect at the Neuromuscular Junction
  • Psychomotor Retardation

    facies, high T3, low T4 and rT3, and normal/mildly elevated TSH levels.[ncbi.nlm.nih.gov] […] typical clinical signs of AHDS, including severe psychomotor retardation, axial hypotonia, lack of speech, diminished muscle mass, increased muscle tone, hyperreflexia, myopathic[ncbi.nlm.nih.gov]

    Missing: Presynaptic Defect at the Neuromuscular Junction
  • Multicore Myopathy with External Ophthalmoplegia

    facies ; Nemaline bodies ; Neonatal hypotonia ; Neonatal onset ; Phenotypic variability ; Polyhydramnios ; Proximal muscle weakness ; Ptosis ; Pulmonary hypoplasia ; Recurrent[mousephenotype.org] facies Increased variability in muscle fiber diameter Open mouth Long face Plantar flexion contractures Need help with a diagnosis?[mendelian.co] facies (open mouth with tented upper lip, poor lip seal when sucking, lack of facial expression, ptosis and restricted ocular movements) • Muscle fasciculation 18.[slideshare.net]

    Missing: Presynaptic Defect at the Neuromuscular Junction
  • Limb-Girdle Muscular Dystrophy Type 2E

    facies 0002058 Myopathy Muscle tissue disease 0003198 Pelvic girdle muscle weakness 0003749 Waddling gait 'Waddling' gait Waddling walk [ more ] 0002515 5%-29% of people[rarediseases.info.nih.gov] […] serum CK Increased serum creatine kinase Increased serum creatine phosphokinase [ more ] 0003236 Gowers sign 0003391 Increased variability in muscle fiber diameter 0003557 Myopathic[rarediseases.info.nih.gov]

    Missing: Presynaptic Defect at the Neuromuscular Junction

Further symptoms