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<meta name="keywords" content="C0947912, disease or syndrome, fatigable weakness, fatigable weakness of limb muscles, generalised muscle weakness due to defect at the neuromuscular junction, generalized muscle weakness (due to defect at the neuromuscular junction), generalized muscle weakness due to defect at the neuromuscular junction, myasthenia, myasthenic weakness, proximal muscle weakness due to defect at the neuromuscular junction, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=451076
|
||
ConceptID=C0947912
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Fatigable weakness</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>451076</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C0947912</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Generalized muscle weakness (due to defect at the neuromuscular junction); Generalized muscle weakness due to defect at the neuromuscular junction; Myasthenia; Proximal muscle weakness due to defect at the neuromuscular junction</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0003473">HP:0003473</a></td></tr>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0947912[DISCUI]&test_type=Clinical" ref="ncbi_uid=451076">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=451076" ref="ncbi_uid=451076">V</a></span></span><span class="TLline">Fatigable weakness</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/105425" ref="tree=MeSH" title="MedGen record for Abnormality of the nervous system">Abnormality of the nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/868417" ref="tree=MeSH" title="MedGen record for Abnormal nervous system physiology">Abnormal nervous system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/866736" ref="tree=MeSH" title="MedGen record for Abnormal synaptic transmission">Abnormal synaptic transmission</a></span><ul><li><span class="TLline"><a href="/medgen/866699" ref="tree=MeSH" title="MedGen record for Abnormal peripheral nervous system synaptic transmission">Abnormal peripheral nervous system synaptic transmission</a></span><ul><li><span class="TLline"><a href="/medgen/892729" ref="tree=MeSH" title="MedGen record for Abnormal synaptic transmission at the neuromuscular junction">Abnormal synaptic transmission at the neuromuscular junction</a></span><ul><li><span class="matched_ds">Fatigable weakness</span><ul><li><span class="TLline"><a href="/medgen/868199" ref="tree=MeSH" title="MedGen record for Fatigable weakness of bulbar muscles">Fatigable weakness of bulbar muscles</a></span><ul><li><span class="TLline"><a href="/medgen/868198" ref="tree=MeSH" title="MedGen record for Fatigable weakness of chewing muscles">Fatigable weakness of chewing muscles</a></span></li><li><span class="TLline"><a href="/medgen/868197" ref="tree=MeSH" title="MedGen record for Fatigable weakness of speech muscles">Fatigable weakness of speech muscles</a></span></li><li><span class="TLline"><a href="/medgen/868196" ref="tree=MeSH" title="MedGen record for Fatigable weakness of swallowing muscles">Fatigable weakness of swallowing muscles</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868195" ref="tree=MeSH" title="MedGen record for Fatigable weakness of respiratory muscles">Fatigable weakness of respiratory muscles</a></span></li><li><span class="TLline"><a href="/medgen/868194" ref="tree=MeSH" title="MedGen record for Fatigable weakness of skeletal muscles">Fatigable weakness of skeletal muscles</a></span><ul><li><span class="TLline"><a href="/medgen/868193" ref="tree=MeSH" title="MedGen record for Fatigable weakness of distal limb muscles">Fatigable weakness of distal limb muscles</a></span></li><li><span class="TLline"><a href="/medgen/868192" ref="tree=MeSH" title="MedGen record for Fatigable weakness of neck muscles">Fatigable weakness of neck muscles</a></span></li><li><span class="TLline"><a href="/medgen/868191" ref="tree=MeSH" title="MedGen record for Fatiguable weakness of proximal limb muscles">Fatiguable weakness of proximal limb muscles</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_112">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_7764"><div><strong>Myasthenia gravis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7764</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0026896</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Myasthenia gravis (MG) is an autoimmune disease in which antibodies bind to acetylcholine receptors or to functionally related molecules in the postsynaptic membrane at the neuromuscular junction. The antibodies induce weakness of skeletal muscles, which is the sole disease manifestation. The weakness can be generalized or localized, is more proximal than distal, and nearly always includes eye muscles, with diplopia and ptosis. The pattern of involvement is usually symmetric, apart from the eye involvement, which is often markedly asymmetric and involves several eye muscles. The weakness typically increases with exercise and repetitive muscle use (fatigue) and varies over the course of a day and from day to day, often with nearly normal muscle strength in the morning (summary by Gilhus, 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7764">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_140751"><div><strong>Familial infantile myasthenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140751</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0393929</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. CMS6 is an autosomal recessive CMS resulting from a presynaptic defect; patients have onset of symptoms in infancy or early childhood and tend to have sudden apneic episodes. Treatment with acetylcholinesterase inhibitors may be beneficial (summary by Engel et al., 2015). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140751">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_331795"><div><strong>Myasthenia, limb-girdle, autoimmune</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331795</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1834635</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/331795">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_373251"><div><strong>Congenital myasthenic syndrome 4C</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373251</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1837091</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Patients with mutations in the CHRNE gene may have compensatory increased expression of the fetal subunit CHRNG (100730) and may respond to treatment with cholinergic agents, pyridostigmine, or amifampridine (summary by Engel et al., 2015). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/373251">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_376880"><div><strong>Congenital myasthenic syndrome 10</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376880</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1850792</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. CMS10 is an autosomal recessive CMS resulting from a postsynaptic defect affecting endplate maintenance of the NMJ. Patients present with limb-girdle weakness in the first decade. Treatment with ephedrine or salbutamol may be beneficial; cholinesterase inhibitors should be avoided (summary by Engel et al., 2015). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/376880">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_338127"><div><strong>Myasthenia, congenital, refractory to acetylcholinesterase inhibitors</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338127</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1850806</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338127">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_400481"><div><strong>Congenital myasthenic syndrome 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400481</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1864233</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction. Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. Endplate acetylcholinesterase deficiency is an autosomal recessive congenital myasthenic syndrome characterized by a defect within the synapse at the neuromuscular junction (NMJ). Mutations in COLQ result in a deficiency of acetylcholinesterase (AChE), which causes prolonged synaptic currents and action potentials due to extended residence of acetylcholine in the synaptic space. Treatment with ephedrine may be beneficial; AChE inhibitors and amifampridine should be avoided (summary by Engel et al., 2015). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/400481">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_419336"><div><strong>Congenital myasthenic syndrome 1A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419336</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2931107</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic, as well as by pathologic mechanism and electrophysiologic studies (i.e., acetylcholine receptor (AChR) deficiency, slow-channel or fast-channel kinetic defects at the AChR) (summary by Engel et al., 2003; Engel et al., 2015). Approximately 10% of CMS cases are presynaptic, 15% are synaptic, and 75% are postsynaptic, the majority of which are caused by AChR deficiency (Engel et al., 2003). Slow-channel congenital myasthenic syndrome (SCCMS) is a disorder of the postsynaptic NMJ characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the AChR channel, specifically prolonged opening and activity of the channel, which causes prolonged synaptic currents resulting in a depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. Treatment with quinine, quinidine, or fluoxetine may be helpful; acetylcholinesterase inhibitors and amifampridine should be avoided (summary by Engel et al., 2015). Genetic Heterogeneity of Congenital Myasthenic Syndromes Recessive mutations in subunits of the acetylcholine receptor are the most common cause of CMS (Harper, 2004). CMS1A and CMS1B (608930) are caused by mutation in the CHRNA1 gene (100690); CMS2A (616313) and CMS2C (616314) are caused by mutation in the CHRNB1 gene (100710) on 17p12; CMS3A (616321), CMS3B (616322), and CMS3C (616323) are caused by mutation in the CHRND gene (100720) on 2q33; and CMS4A (605809), CMS4B (616324), and CMS4C (608931) are caused by mutation in the CHRNE gene (100725) on 17p13. CMS5 (603034) is caused by mutation in the COLQ gene (603033) on 3p25; CMS6 (254210) is caused by mutation in the CHAT gene (118490) on 10q; CMS7 (616040) is caused by mutation in the SYT2 gene (600104) on 1q32; CMS8 (615120) is caused by mutation in the AGRN gene (103320) on 1p; CMS9 (616325) is caused by mutation in the MUSK gene (601296) on 9q31; CMS10 (254300) is caused by mutation in the DOK7 gene (610285) on 4p; CMS11 (616326) is caused by mutation in the RAPSN gene (601592) on 11p11; CMS12 (610542) is caused by mutation in the GFPT1 gene (138292) on 2p14; CMS13 (614750) is caused by mutation in the DPAGT1 gene (191350) on 11q23; CMS14 (616228) is caused by mutation in the ALG2 gene (607905) on 9q22; CMS15 (616227) is caused by mutation in the ALG14 gene (612866) on 1p21; CMS16 (614198) is caused by mutation in the SCN4A gene (603967) on 17q; CMS17 (616304) is caused by mutation in the LRP4 gene (604270) on 11p12; CMS18 (616330) is caused by mutation in the SNAP25 gene (600322) on 20p11; CMS19 (616720) is caused by mutation in the COL13A1 gene (120350) on 10q22; CMS20 (617143) is caused by mutation in the SLC5A7 gene (608761) on 2q12; CMS21 (617239) is caused by mutation in the SLC18A3 gene (600336) on 10q11; CMS22 (616224) is caused by mutation in the PREPL gene (609557) on 2p21; CMS23 (618197) is caused by mutation in the SLC25A1 gene (190315) on 22q11; CMS24 (618198) is caused by mutation in the MYO9A gene (604875) on 15q22; and CMS25 (618323) is caused by mutation in the VAMP1 gene (185880) on 12p13.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/419336">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_481742"><div><strong>Congenital myasthenic syndrome 16</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481742</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3280112</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Congenital myasthenic syndrome is a disorder characterized by variable degrees of muscle fatigability caused by impaired transmission of electrical signals at the neuromuscular junction (NMJ) (summary by Arnold et al., 2015). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/481742">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_765249"><div><strong>Congenital myasthenic syndrome 12</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>765249</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3552335</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Congenital myasthenic syndrome-12 (CMS12) is an autosomal recessive neuromuscular disorder characterized by onset of proximal muscle weakness in the first decade. EMG classically shows a decremental response to repeated nerve stimulation. Affected individuals show a favorable response to acetylcholinesterase (AChE) inhibitors (summary by Senderek et al., 2011). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/765249">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_766559"><div><strong>Congenital myasthenic syndrome 13</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766559</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3553645</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital myasthenic syndrome-13 (CMS13) is an autosomal recessive neuromuscular disorder characterized by onset of proximal muscle weakness in the first decade. EMG classically shows a decremental response to repeated nerve stimulation. Affected individuals show a favorable response to acetylcholinesterase (AChE) inhibitors (summary by Belaya et al., 2012). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766559">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_864033"><div><strong>Congenital myasthenic syndrome 15</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>864033</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4015596</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital myasthenic syndrome-15 is one of a heterogeneous group of disorders that arise from impaired signal transmission at the neuromuscular synapse and are characterized by fatigable muscle weakness (summary by Cossins et al., 2013). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/864033">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_864034"><div><strong>Congenital myasthenic syndrome 14</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>864034</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4015597</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital myasthenic syndrome-14 (CMS14) is an autosomal recessive neuromuscular disorder characterized by onset of limb-girdle muscle weakness in early childhood. The disorder is slowly progressive, and some patients may become wheelchair-bound. There is no respiratory or cardiac involvement. Treatment with anticholinesterase medication may be beneficial (summary by Cossins et al., 2013). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/864034">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_906793"><div><strong>Congenital myasthenic syndrome 18</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>906793</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4225364</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital myasthenic syndrome-18 (CMS18) is an autosomal dominant presynaptic neuromuscular disorder characterized by early-onset muscle weakness and easy fatigability associated with delayed psychomotor development and ataxia (summary by Shen et al., 2014). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/906793">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_895641"><div><strong>Congenital myasthenic syndrome 9</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>895641</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4225368</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Patients may show a favorable response to amifampridine (summary by Engel et al., 2015). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/895641">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_909404"><div><strong>Congenital myasthenic syndrome 3B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>909404</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4225371</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fast-channel congenital myasthenic syndrome (FCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the acetylcholine receptor channel, specifically from abnormally brief opening and activity of the channel, with a rapid decay in endplate current and a failure to reach the threshold for depolarization. Treatment with pyridostigmine or amifampridine may be helpful; quinine, quinidine, and fluoxetine should be avoided (summary by Sine et al., 2003 and Engel et al., 2015). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/909404">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_908185"><div><strong>Congenital myasthenic syndrome 2A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>908185</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4225374</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Slow-channel congenital myasthenic syndrome (SCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the acetylcholine receptor channel, specifically from prolonged opening and activity of the channel, which causes prolonged synaptic currents resulting in a depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. Treatment with quinine, quinidine, or fluoxetine may be helpful; cholinesterase inhibitors and amifampridine should be avoided (summary by Engel et al., 2015). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/908185">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_908188"><div><strong>Congenital myasthenic syndrome 4A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>908188</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4225413</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Slow-channel congenital myasthenic syndrome (SCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the acetylcholine receptor channel, specifically from prolonged opening and activity of the channel, which causes prolonged synaptic currents resulting in a depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. Treatment with quinine, quinidine, or fluoxetine may be helpful; acetylcholinesterase inhibitors and amifampridine should be avoided (summary by Engel et al., 2015). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/908188">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_934661"><div><strong>Congenital myasthenic syndrome 20</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934661</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4310694</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Congenital myasthenic syndrome-20 is an autosomal recessive neuromuscular disorder characterized by severe hypotonia associated with episodic apnea soon after birth. Patients have muscle weakness resulting in delayed walking, ptosis, poor sucking and swallowing, and generalized limb fatigability and weakness. EMG studies usually show a decremental response to repetitive nerve stimulation, and some patients may show a good response to AChE inhibitors (summary by Bauche et al., 2016). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/934661">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1648392"><div><strong>Myasthenic syndrome, congenital, 23, presynaptic</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648392</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4748678</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1648392">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376880" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital myasthenic syndrome 10</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_765249" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital myasthenic syndrome 12</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766559" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital myasthenic syndrome 13</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_864034" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital myasthenic syndrome 14</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_864033" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital myasthenic syndrome 15</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (20)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_481742" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital myasthenic syndrome 16</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_906793" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital myasthenic syndrome 18</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419336" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital myasthenic syndrome 1A</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934661" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital myasthenic syndrome 20</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_908185" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital myasthenic syndrome 2A</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_909404" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital myasthenic syndrome 3B</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_908188" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital myasthenic syndrome 4A</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_373251" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital myasthenic syndrome 4C</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_400481" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital myasthenic syndrome 5</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_895641" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital myasthenic syndrome 9</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_140751" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial infantile myasthenia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_7764" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myasthenia gravis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338127" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myasthenia, congenital, refractory to acetylcholinesterase inhibitors</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_331795" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myasthenia, limb-girdle, autoimmune</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648392" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myasthenic syndrome, congenital, 23, presynaptic</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36094697">Genetic and clinical evaluation of congenital myasthenic syndromes with long-term follow-up: experience of a tertiary center in Turkey.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yildiz EP,
|
||
Kilic MA,
|
||
Yalcin EU,
|
||
Kurekci F,
|
||
Avci R,
|
||
Hacıfazlıoğlu NE,
|
||
Ceylaner S,
|
||
Gezdirici A,
|
||
Çalışkan M</span><br />
|
||
<span class="medgenPMjournal">Acta Neurol Belg</span>
|
||
2023 Oct;123(5):1841-1847.
|
||
Epub 2022 Sep 12
|
||
doi: 10.1007/s13760-022-02090-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36094697" target="_blank">36094697</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33223079">Update in the Management of Myasthenia Gravis and Lambert-Eaton Myasthenic Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bodkin C,
|
||
Pascuzzi RM</span><br />
|
||
<span class="medgenPMjournal">Neurol Clin</span>
|
||
2021 Feb;39(1):133-146.
|
||
Epub 2020 Nov 7
|
||
doi: 10.1016/j.ncl.2020.09.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33223079" target="_blank">33223079</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26552645">Effective Treatment With Albuterol in DOK7 Congenital Myasthenic Syndrome in Children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tsao CY</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2016 Jan;54:85-7.
|
||
Epub 2015 Nov 6
|
||
doi: 10.1016/j.pediatrneurol.2015.09.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26552645" target="_blank">26552645</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22fatigable%20weakness%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (3)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28268468">Detection of myasthenia gravis using electrooculography signals.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liang T,
|
||
Boulos MI,
|
||
Murray BJ,
|
||
Krishnan S,
|
||
Katzberg H,
|
||
Umapathy K</span><br />
|
||
<span class="medgenPMjournal">Annu Int Conf IEEE Eng Med Biol Soc</span>
|
||
2016 Aug;2016:896-899.
|
||
doi: 10.1109/EMBC.2016.7590845.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28268468" target="_blank">28268468</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17986328">Myasthenia gravis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Juel VC,
|
||
Massey JM</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2007 Nov 6;2:44.
|
||
doi: 10.1186/1750-1172-2-44.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17986328" target="_blank">17986328</a><a href="/pmc/articles/PMC2211463" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17414872">Mitochondrial ophthalmoplegia with fatigable weakness and elevated acetylcholine receptor antibody.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Behbehani R,
|
||
Sharfuddin K,
|
||
Anim JT</span><br />
|
||
<span class="medgenPMjournal">J Neuroophthalmol</span>
|
||
2007 Mar;27(1):41-4.
|
||
doi: 10.1097/WNO.0b013e31803312fa.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17414872" target="_blank">17414872</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15229790">Myasthenia gravis: diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meriggioli MN,
|
||
Sanders DB</span><br />
|
||
<span class="medgenPMjournal">Semin Neurol</span>
|
||
2004 Mar;24(1):31-9.
|
||
doi: 10.1055/s-2004-829594.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15229790" target="_blank">15229790</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12138995">Congenital myasthenic syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sieb JP,
|
||
Kraner S,
|
||
Steinlein OK</span><br />
|
||
<span class="medgenPMjournal">Semin Pediatr Neurol</span>
|
||
2002 Jun;9(2):108-19.
|
||
doi: 10.1053/spen.2002.33803.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12138995" target="_blank">12138995</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fatigable%20weakness%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (16)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39174248">Myasthenia gravis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pasnoor M,
|
||
Wolfe GI,
|
||
Barohn RJ</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2024;203:185-203.
|
||
doi: 10.1016/B978-0-323-90820-7.00006-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39174248" target="_blank">39174248</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36724914">Myasthenia gravis: Frequently asked questions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Morren JA,
|
||
Li Y</span><br />
|
||
<span class="medgenPMjournal">Cleve Clin J Med</span>
|
||
2023 Feb 1;90(2):103-113.
|
||
doi: 10.3949/ccjm.90a.22017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36724914" target="_blank">36724914</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33223079">Update in the Management of Myasthenia Gravis and Lambert-Eaton Myasthenic Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bodkin C,
|
||
Pascuzzi RM</span><br />
|
||
<span class="medgenPMjournal">Neurol Clin</span>
|
||
2021 Feb;39(1):133-146.
|
||
Epub 2020 Nov 7
|
||
doi: 10.1016/j.ncl.2020.09.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33223079" target="_blank">33223079</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29655448">Generalized Myasthenia Gravis: Classification, Clinical Presentation, Natural History, and Epidemiology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hehir MK,
|
||
Silvestri NJ</span><br />
|
||
<span class="medgenPMjournal">Neurol Clin</span>
|
||
2018 May;36(2):253-260.
|
||
doi: 10.1016/j.ncl.2018.01.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29655448" target="_blank">29655448</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12138995">Congenital myasthenic syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sieb JP,
|
||
Kraner S,
|
||
Steinlein OK</span><br />
|
||
<span class="medgenPMjournal">Semin Pediatr Neurol</span>
|
||
2002 Jun;9(2):108-19.
|
||
doi: 10.1053/spen.2002.33803.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12138995" target="_blank">12138995</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fatigable%20weakness%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (32)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/26705120">Myasthenia gravis: a clinical-immunological update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Binks S,
|
||
Vincent A,
|
||
Palace J</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2016 Apr;263(4):826-34.
|
||
Epub 2015 Dec 24
|
||
doi: 10.1007/s00415-015-7963-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26705120" target="_blank">26705120</a><a href="/pmc/articles/PMC4826656" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26552645">Effective Treatment With Albuterol in DOK7 Congenital Myasthenic Syndrome in Children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tsao CY</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2016 Jan;54:85-7.
|
||
Epub 2015 Nov 6
|
||
doi: 10.1016/j.pediatrneurol.2015.09.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26552645" target="_blank">26552645</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26502757">Myasthenia Gravis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gwathmey KG,
|
||
Burns TM</span><br />
|
||
<span class="medgenPMjournal">Semin Neurol</span>
|
||
2015 Aug;35(4):327-39.
|
||
Epub 2015 Oct 6
|
||
doi: 10.1055/s-0035-1558975.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26502757" target="_blank">26502757</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24951453">RYR1-related congenital myopathy with fatigable weakness, responding to pyridostigimine.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Illingworth MA,
|
||
Main M,
|
||
Pitt M,
|
||
Feng L,
|
||
Sewry CA,
|
||
Gunny R,
|
||
Vorstman E,
|
||
Beeson D,
|
||
Manzur A,
|
||
Muntoni F,
|
||
Robb SA</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2014 Aug;24(8):707-12.
|
||
Epub 2014 May 23
|
||
doi: 10.1016/j.nmd.2014.05.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24951453" target="_blank">24951453</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23117946">Myasthenia gravis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Silvestri NJ,
|
||
Wolfe GI</span><br />
|
||
<span class="medgenPMjournal">Semin Neurol</span>
|
||
2012 Jul;32(3):215-26.
|
||
Epub 2012 Nov 1
|
||
doi: 10.1055/s-0032-1329200.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23117946" target="_blank">23117946</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fatigable%20weakness%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (11)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36094697">Genetic and clinical evaluation of congenital myasthenic syndromes with long-term follow-up: experience of a tertiary center in Turkey.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yildiz EP,
|
||
Kilic MA,
|
||
Yalcin EU,
|
||
Kurekci F,
|
||
Avci R,
|
||
Hacıfazlıoğlu NE,
|
||
Ceylaner S,
|
||
Gezdirici A,
|
||
Çalışkan M</span><br />
|
||
<span class="medgenPMjournal">Acta Neurol Belg</span>
|
||
2023 Oct;123(5):1841-1847.
|
||
Epub 2022 Sep 12
|
||
doi: 10.1007/s13760-022-02090-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36094697" target="_blank">36094697</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29655448">Generalized Myasthenia Gravis: Classification, Clinical Presentation, Natural History, and Epidemiology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hehir MK,
|
||
Silvestri NJ</span><br />
|
||
<span class="medgenPMjournal">Neurol Clin</span>
|
||
2018 May;36(2):253-260.
|
||
doi: 10.1016/j.ncl.2018.01.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29655448" target="_blank">29655448</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17986328">Myasthenia gravis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Juel VC,
|
||
Massey JM</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2007 Nov 6;2:44.
|
||
doi: 10.1186/1750-1172-2-44.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17986328" target="_blank">17986328</a><a href="/pmc/articles/PMC2211463" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17414872">Mitochondrial ophthalmoplegia with fatigable weakness and elevated acetylcholine receptor antibody.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Behbehani R,
|
||
Sharfuddin K,
|
||
Anim JT</span><br />
|
||
<span class="medgenPMjournal">J Neuroophthalmol</span>
|
||
2007 Mar;27(1):41-4.
|
||
doi: 10.1097/WNO.0b013e31803312fa.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17414872" target="_blank">17414872</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10534268">A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abicht A,
|
||
Stucka R,
|
||
Karcagi V,
|
||
Herczegfalvi A,
|
||
Horváth R,
|
||
Mortier W,
|
||
Schara U,
|
||
Ramaekers V,
|
||
Jost W,
|
||
Brunner J,
|
||
Janssen G,
|
||
Seidel U,
|
||
Schlotter B,
|
||
Müller-Felber W,
|
||
Pongratz D,
|
||
Rüdel R,
|
||
Lochmüller H</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
1999 Oct 22;53(7):1564-9.
|
||
doi: 10.1212/wnl.53.7.1564.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10534268" target="_blank">10534268</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fatigable%20weakness%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (6)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38995797">Characterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the c.1327delG Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon Subunit.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kastreva K,
|
||
Chamova T,
|
||
Blagoeva S,
|
||
Bichev S,
|
||
Mihaylova V,
|
||
Meyer S,
|
||
Thompson R,
|
||
Cherninkova S,
|
||
Guergueltcheva V,
|
||
Lochmuller H,
|
||
Tournev I</span><br />
|
||
<span class="medgenPMjournal">J Neuromuscul Dis</span>
|
||
2024;11(5):1011-1020.
|
||
doi: 10.3233/JND-230235.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38995797" target="_blank">38995797</a><a href="/pmc/articles/PMC11380250" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32895905">Clinical and neurophysiological response to ephedrine in a patient affected with slow-channel congenital myasthenic syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eirís-Puñal J,
|
||
Fuentes-Pita P,
|
||
Gómez-Lado C,
|
||
Pérez-Gay L,
|
||
López-Vázquez A,
|
||
Quintas-Rey R,
|
||
Barros-Angueira F,
|
||
Pardo J</span><br />
|
||
<span class="medgenPMjournal">Rev Neurol</span>
|
||
2020 Sep 16;71(6):221-224.
|
||
doi: 10.33588/rn.7106.2020265.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32895905" target="_blank">32895905</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fatigable%20weakness%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0947912%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C0947912%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (3)</a></li>
|
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0947912%5bDISCUI%5d" target="_blank">See all (3)</a></total></li>
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