{"Name":"Eaton-Lambert syndrome","DiseaseID__c":"GARD:0006851","id":6851,"encodedName":"eaton-lambert-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Eaton-Lambert syndrome","Xref_IDs__c":"56989000; C0022972; C3155; D015624; DOID:0050214; MEDGEN:6005; MONDO:0018556; ORPHA:43393","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018556","Disease_Description__c":"Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune, presynaptic disorder of neuromuscular transmission characterized by fluctuating muscle weakness and autonomic dysfunction frequently associated with small-cell lung cancer (SCLC).","GARD_Name__c":"Eaton-Lambert syndrome","GARD_Synonym__c":"eaton lambert syndrome; lambert eaton myasthenic syndrome; lambert eaton syndrome; lambert-eaton myasthenic syndrome; lambert-eaton syndrome; lems; lems - lambert-eaton myasthenic syndrome; myasthenic syndrome; myasthenic syndrome of lambert-eaton; myasthenic-myopathic syndrome of lambert-eaton","Curated_Disease_Description_Source__c":"GARD:0006851","Curated_Disease_Description__c":"Lambert Eaton myasthenic syndrome (LEMS) is a disorder of the neuromuscular junction. The neuromuscular junction is the site where nerve cells meet muscle cells and help activate the muscles. This syndrome occurs when antibodies interfere with electrical impulses between the nerve and muscle cells. It may be associated with other autoimmune diseases, or more commonly coincide with or precede a diagnosis of cancer such as small cell lung cancer. Symptoms may include muscle weakness, a tingling sensation in the affected areas, fatigue, and dry mouth.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:43393","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018556","ORPHANET_ID__c":"ORPHA:43393","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome miasténico de lambert-eaton","Spanish_Description_Source__c":"ORPHA:43393","Spanish_Description__c":"El síndrome miasténico de Lambert-Eaton (LEMS) es un trastorno presináptico autoinmune de transmisión neuromuscular caracterizado por una debilidad muscular fluctuante y una disfunción neurovegetativa, y va asociado con frecuencia al carcinoma microcítico de pulmón (SCLC).","Spanish_Disease_Name__c":"síndrome miasténico de lambert-eaton","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:98006","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Lambert Eaton myasthenic syndrome (LEMS) is a disorder of the neuromuscular junction. The neuromuscular junction is the site where nerve cells meet muscle cells and help activate the muscles. This syndrome occurs when antibodies interfere with electrical impulses between the nerve and muscle cells. It may be associated with other autoimmune diseases, or more commonly coincide with or precede a diagnosis of cancer such as small cell lung cancer. Symptoms may include muscle weakness, a tingling sensation in the affected areas, fatigue, and dry mouth.","Curated_Disease_Description_Source__c":"GARD:0006851","GARD_Synonym__c":"eaton lambert syndrome; lambert eaton myasthenic syndrome; lambert eaton syndrome; lambert-eaton myasthenic syndrome; lambert-eaton syndrome; lems; lems - lambert-eaton myasthenic syndrome; myasthenic syndrome; myasthenic syndrome of lambert-eaton; myasthenic-myopathic syndrome of lambert-eaton","Name":"Eaton-Lambert syndrome","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Autoimmune Registry","Website__c":"https://www.autoimmuneregistry.org/"},{"Account_Name__c":"Global Autoimmune Institute","Website__c":"https://www.autoimmuneinstitute.org/"},{"Account_Name__c":"Muscular Dystrophy Canada","Website__c":"https://muscle.ca/"},{"Account_Name__c":"Myaware - Fighting Myasthenia Together","Website__c":"https://www.myaware.org/"},{"Account_Name__c":"Autoimmune Association","Website__c":"https://autoimmune.org/"},{"Account_Name__c":"Muscular Dystrophy Association","Website__c":"https://www.mda.org"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:43393"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C015624","Source__c":"C0022972; MONDO:0018556","Xref__c":"D015624"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=56989000","Source__c":"C0022972; MONDO:0018556","Xref__c":"56989000"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050214","Source__c":"MONDO:0018556","Xref__c":"DOID:0050214"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0022972","Source__c":"C0022972","Xref__c":"C0022972"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C3155","Source__c":"C0022972; MONDO:0018556","Xref__c":"C3155"},{"URL__c":"https://www.orpha.net/en/disease/detail/43393","Source__c":"C0022972; MONDO:0018556; ORPHA:43393","Xref__c":"ORPHA:43393"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=6005","Source__c":"C0022972","Xref__c":"MEDGEN:6005"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018556","Source__c":"GARD:0006851","Xref__c":"MONDO:0018556"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:43393","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Small cell lung cancer (SCLC) is a type of highly malignant lung cancer that is composed of small ovoid cells. In the past, SCLC was called oat cell carcinoma because the microscopic appearance of the cells was felt to resemble oats. SLCLC usually originates near the bronchi and in many cases may grow and metastasize quickly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030357","HPO_Synonym__c":"Oat cell carcinoma of lung; Oat cell lung cancer; Small cell lung cancer","HPO_Name__c":"Small cell lung carcinoma","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:43393","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormality observed upon electromyography when nerve studied is electrically stimulated six to ten times at 2 or 3 Hertz.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030000","HPO_Name__c":"EMG: repetitive nerve stimulation abnormality","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Procedure_EMG"}},{"Provided_By__c":"ORPHA:43393","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A functional abnormality of the autonomic nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012332","HPO_Synonym__c":"Autonomic dysfunction; Autonomic dysregulation; Dysautonomia","HPO_Name__c":"Abnormal autonomic nervous system physiology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:43393","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against P/Q-type voltage-gated calcium channels (VGCCs).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:5000027","HPO_Synonym__c":"Anti-P/Q-type voltage-gated calcium-channel antibody","HPO_Name__c":"Anti-P/Q-type VGCC antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:43393","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Infrequent or difficult evacuation of feces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002019","HPO_Synonym__c":"Constipation; Costiveness; Dyschezia","HPO_Name__c":"Constipation","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:43393","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004926","HPO_Name__c":"Orthostatic hypotension due to autonomic dysfunction","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:43393","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Lack of strength of the proximal muscles that becomes progressively more severe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009073","HPO_Synonym__c":"Muscle weakness, progressive, proximal","HPO_Name__c":"Progressive proximal muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:43393","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to a greater than normal decrease in the amplitude during the course of the investigation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003403","HPO_Synonym__c":"EMG: decremental response of CMAP to repetitive nerve stimulation","HPO_Name__c":"EMG: decremental response of compound muscle action potential to repetitive nerve stimulation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Procedure_EMG"}},{"Provided_By__c":"ORPHA:43393","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001315","HPO_Synonym__c":"Absent or decreased deep tendon reflexes; Decreased deep tendon reflexes; Decreased tendon reflexes; Decreased to absent deep tendon reflexes; Decreased/absent deep tendon reflexes; Depressed tendon reflexes; Diminished deep tendon reflexes; Diminished or absent deep tendon reflexes; Diminished or absent tendon reflexes; Hypoactive to absent deep tendon reflexes; Impaired tendon reflexes; Reduced/absent deep tendon reflexes; Weak or absent deep tendon reflexes","HPO_Name__c":"Reduced tendon reflexes","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:43393","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001097","HPO_Synonym__c":"Dry eyes; Keratitis sicca; Xerophthalmia","HPO_Name__c":"Keratoconjunctivitis sicca","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:43393","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally diminished capacity to sweat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000966","HPO_Synonym__c":"Decreased ability to sweat; Decreased sweating; Impaired sweating; Inadequate sweating; Oligohidrosis; Sweating, decreased","HPO_Name__c":"Hypohidrosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:43393","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000315","HPO_Synonym__c":"Abnormality of the eye region; Abnormality of the region around the eyes","HPO_Name__c":"Abnormality of the orbital region","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:43393","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies (immunoglobulins) in the serum that react against voltage-gated calcium channels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030209","HPO_Synonym__c":"Ca channel antibody positivity; Ca2+ channel antibody positivity","HPO_Name__c":"Calcium channel antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:43393","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002483","HPO_Name__c":"Bulbar signs","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:43393","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Dryness of the mouth due to salivary gland dysfunction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000217","HPO_Synonym__c":"Dry mouth; Dry mouth syndrome; Reduced salivation","HPO_Name__c":"Xerostomia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:43393","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inability to develop or maintain an erection of the penis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000802","HPO_Synonym__c":"Difficulty getting a full erection; Difficulty getting an erection","HPO_Name__c":"Impotence","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Neurology"],"Specialist":["Neurology","Neuromuscular medicine"]},"synonyms":["eaton lambert syndrome"," lambert eaton myasthenic syndrome"," lambert eaton syndrome"," lambert-eaton myasthenic syndrome"," lambert-eaton syndrome"," lems"," lems - lambert-eaton myasthenic syndrome"," myasthenic syndrome"," myasthenic syndrome of lambert-eaton"," myasthenic-myopathic syndrome of lambert-eaton"]}