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18 Possible Causes for Fatigue, 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] An African 41 years-old SLE patient presented with persisting fatigue, myalgia and dyspnea, abolished reflexes and a bilateral ptosis.[ncbi.nlm.nih.gov] We report a 73 year-old lady who presented 10 years previously with stiffness of both calves, dry mouth, fatigue, proximal weakness and areflexia in lower limbs.[ncbi.nlm.nih.gov]

  • Ptosis

    These disorders are distinguished by molecular defects and the localization of the dysfunction at the presynaptic, postsynaptic, and neuromuscular junction.[journals.lww.com] Patients may complain of difficulty keeping the eyes(s) open, eyestrain, eyebrow ache and fatigue, especially when reading.[ocvermont.com] In addition to drooping of the eyelids, patients may also experience difficulty closing the eye or blinking, tearing, eye fatigue or double vision.[brandoneye.com]

  • Slow-Channel Congenital Myasthenic Syndrome

    […] by the site of the transmission defect: presynaptic, synaptic, and postsynaptic.[link.springer.com] Depending on the type, symptoms of CMS vary from mild to severe, but generally include weakness, fatigue and ptosis (droopy eyelids).[mda.org] In the less severe cases, the condition may cause drooping eyelids and fatigue, but only mildly interferes with daily life.[musculardystrophyuk.org]

  • Congenital Myasthenic Syndrome

    Congenital myasthenic syndromes are classified as presynaptic, synaptic, or postsynaptic, depending on the primary defect's location within the neuromuscular junction.[ncbi.nlm.nih.gov] Depending on the type, symptoms of CMS vary from mild to severe, but generally include weakness, fatigue and ptosis (droopy eyelids).[mda.org] This patient had only a moderate phenotype with mild muscle weakness and abnormal fatigue.[ncbi.nlm.nih.gov]

  • Familial Infantile Myasthenia

    Thus, a presynaptic defect of acetylcholine resynthesis, packaging or mobilisation was proposed ( 8, 9, 16 ).[academic.oup.com] Abnormal muscular weakness or fatigue. 2.[medical-dictionary.thefreedictionary.com] Ontology: Synonyms: familial infantile myasthenia 1 familial limb-girdle myasthenia Definition: A neuromuscular junction disease that is characterized by weakness and easy fatiguability[zfin.org]

  • Parana Hard-Skin Syndrome

    Congenital myasthenic syndromes are classified as presynaptic, synaptic, or postsynaptic, depending on the primary defect's location within the neuromuscular junction.[ncbi.nlm.nih.gov] Strengthens the abdominal muscles and improves digestion Relieves the body of stress and fatigue Irritable Bowel Syndrome diet recommendation Diet is a major factor when[artofliving.org] […] syndrome, Chinese restaurant syndrome, Christian syndrome, Christ-Siemens-Touraine syndrome, Chromosome breakage syndrome, Chronic exertional compartment syndrome, Chronic fatigue[acronymattic.com]

  • Idiopathic Camptocormia

    Botulinum toxin : Botulinum toxin acts by producing chemodenervation and local paralysis in the injected muscle due to presynaptic neuromuscular junction defect.[ijmr.org.in] Idiopathic disorders usually 50 years Paraspinous muscles Reduced strength Stooped posture when erect Posterior neck muscles may be involved Limb muscles Normal strength Fatigue[neuromuscular.wustl.edu] Chronic fatigue syndrome is an organic disease and should be treated by neurologists?[theneurologylounge.com]

  • Paraneoplastic Neurologic Syndrome

    […] in defective neuromuscular transmission.[dl.ndl.go.jp] Signs and symptoms include pelvic and lower extremity muscle weakness, fatigue, difficulty swallowing, difficulty speaking, irregular eye movement, and double vision.[mayoclinic.org] Symptoms include fatigue, weakness, muscular pain in upper arms, difficulty walking, burning, numbness or tingling sensations in the limbs (peripheral paresthesia), dry mouth[encyclopedia.com]

  • Infantile Botulism

    EMG studies were suggestive of presynaptic neuromuscular junction defect. Motor unit potentials were of small amplitude and brief duration with increased polyphasia.[pediatricneurologybriefs.com] Sometimes fatigue and shortness of breath can last for years.[drugs.com] Early symptoms of foodborne botulism include weakness, marked fatigue and vertigo usually followed by blurred vision, dry mouth and difficulty swallowing.[health.nsw.gov.au]

  • Smith Lemli Opitz Syndrome

    These disorders are distinguished by molecular defects and the localization of the dysfunction at the presynaptic, postsynaptic, and neuromuscular junction.[journals.lww.com] […] deletion syndrome Chromosome Xp11.3 Deletion Syndrome Chromosome Xq Duplication Syndrome Chromosome Xq28 Duplication Syndrome chronic atrial and intestinal dysrhythmia chronic fatigue[rgd.mcw.edu] This was slow to heal and she had persistent peri-rectal pain, rectal bleeding, progressive weight loss, fatigue and bilateral lower extremity weakness.[journals.plos.org]

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