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15 Possible Causes for Constipation, 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] The Lambert-Eaton myasthenic syndrome (LEMS) is a neuromuscular disease; its unique symptoms of LEMS include dry mouth with a metallic taste, constipation, and erectile dysfunction[ncbi.nlm.nih.gov] A significant proportion of patients also have dysfunction of the autonomic nervous system that may include dry mouth, constipation, blurred vision, impaired sweating, and[ncbi.nlm.nih.gov]

  • 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] A 3-month-old male infant was admitted to the University Hospital of Los Andes with a history of constipation, weak crying, poor feeding, flaccidity and later bilateral ptosis[ncbi.nlm.nih.gov] The diagnosis is suspected when infants present with sudden onset of weakness, respiratory failure, and constipation and is confirmed by demonstration of botulinum toxin in[ncbi.nlm.nih.gov]

  • Paraneoplastic Neurologic Syndrome

    […] in defective neuromuscular transmission.[dl.ndl.go.jp] She also experienced numbness and sensory disturbance of the left lower limbs, 2 epileptic seizures, and constipation during the period.[ncbi.nlm.nih.gov] In June 2012, she was again hospitalized because of progressive paresthesia of her lower limbs, and additionally severe constipation.[jneuro.com]

  • 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] Vomiting, feeding difficulties, constipation, toxic megacolon, electrolyte disturbances and failure to thrive are common.[patient.info] Pulmonary hypertension has been noted in at least one patient. [15] Vomiting, feeding difficulties, constipation, toxic megacolon, electrolyte disturbances, and failure to[emedicine.medscape.com]

  • Ptosis

    These disorders are distinguished by molecular defects and the localization of the dysfunction at the presynaptic, postsynaptic, and neuromuscular junction.[journals.lww.com] Other factors that can increase your risk for the condition include: obesity chronic cough chronic constipation Your doctor can diagnose uterine prolapse by evaluating your[healthline.com] […] external auditory canals as anomalies associated with the disorder. [2,3] 4.9 Congenital myasthenic syndromes (CMS) CMS are a heterogeneous group of disorders affecting neuromuscular[journals.lww.com]

  • 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] These act as laxatives, aiding in relaxing IBS related constipation.[artofliving.org] […] to postsynaptic defects.[ncbi.nlm.nih.gov]

  • 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] In a recent study of 531 PD patients from Japan 22 had camptocormia which was associated with disease severity, higher L- Dopa0 usage and autonomic symptoms such as constipation[ijmr.org.in]

  • Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia

    […] dominant [slow channel syndrome]) neuromuscular junction; not associated with antibodies to AChR; symptoms: usually begin in the neonatal period, ocular, bulbar, respiratory[neupsykey.com] People with IOSCA may experience excessive sweating, difficulty controlling urination, and severe constipation.[diseaseinfosearch.org] Congenital myasthenia: heterogeneous disorder due to genetic defects in the presynaptic (mostly autosomal recessive) and postsynaptic (mostly autosomal recessive, some autosomal[neupsykey.com]

  • 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] Male (50%) Female (50%) Median age: 49.5 years 40% of LEMS Weakness More confined to proximal legs Many with some in arms Autonomic: Dry mouth (84%); Erectile dysfunction; Constipation[neuromuscular.wustl.edu] […] the acetylcholine receptor, CMS is caused by genetic presynaptic, synaptic, or postsynaptic defects at the neuromuscular junction.[webeye.ophth.uiowa.edu]

  • Slow-Channel Congenital Myasthenic Syndrome

    […] by the site of the transmission defect: presynaptic, synaptic, and postsynaptic.[link.springer.com] Individuals with LEMS also have weakness of the legs and arms and there may also be disturbance of the autonomic nervous system, which can cause dry mouth and constipation[contact.org.uk] Botulism produces autonomic dysfunction, including constipation, ileus, dry mouth, and dilated pupils.[neupsykey.com]

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