{"Name":"Isaac syndrome","DiseaseID__c":"GARD:0006793","id":6793,"encodedName":"isaac-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Isaac syndrome","Xref_IDs__c":"305719002; C0242287; C202012; MEDGEN:116151; MONDO:0019399; ORPHA:84142","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0019399","Disease_Description__c":"Isaac's syndrome is an immune-mediated peripheral motor neuron disorder characterized by continuous muscle fiber activity at rest resulting in muscle stiffness, cramps, myokymia, and pseudomyotonia.","GARD_Name__c":"Isaac syndrome","GARD_Synonym__c":"acquired neuromyotonia; continuous muscle fiber activity; continuous muscle fiber activity syndrome; continuous muscle fibre activity syndrome; isaacs syndrome; isaacs-mertens syndrome; isaacs' syndrome; neuromyotonia; peripheral nerve hyperexcitability; quantal squander syndrome","Curated_Disease_Description_Source__c":"GARD:0006793","Curated_Disease_Description__c":"Isaacs' syndrome is a rare neuromuscular disorder that is characterized by progressive muscle stiffness; continuously contracting or twitching muscles (myokymia); and diminished reflexes. Although the exact underlying cause is unknown, there appear to be hereditary and acquired (non-inherited) forms of the condition.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:84142","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019399","ORPHANET_ID__c":"ORPHA:84142","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de isaacs","Spanish_Description_Source__c":"ORPHA:84142","Spanish_Description__c":"El síndrome de Isaac es un trastorno inmunomediado de la neurona motora periférica, caracterizado por una actividad continua de la fibra muscular en reposo lo que da lugar a rigidez muscular, calambres, mioquimia y pseudomiotonía.","Spanish_Disease_Name__c":"síndrome de isaacs","Spanish_GARD_Synonym__c":"síndrome de actividad continua de la fibra muscular; síndrome de isaacs-mertens","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":"Isaacs' syndrome is a rare neuromuscular disorder that is characterized by progressive muscle stiffness; continuously contracting or twitching muscles (myokymia); and diminished reflexes. Although the exact underlying cause is unknown, there appear to be hereditary and acquired (non-inherited) forms of the condition.","Curated_Disease_Description_Source__c":"GARD:0006793","GARD_Synonym__c":"acquired neuromyotonia; continuous muscle fiber activity; continuous muscle fiber activity syndrome; continuous muscle fibre activity syndrome; isaacs syndrome; isaacs-mertens syndrome; isaacs' syndrome; neuromyotonia; peripheral nerve hyperexcitability; quantal squander syndrome","Name":"Isaac syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"The Foundation for Peripheral Neuropathy","Website__c":"https://www.foundationforpn.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":"Peripheral Neuropathy","Tag_Category__c":"Account","curated_tag_name":"Peripheral neuropathy"},{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:84142"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/84142","Source__c":"C0242287; MONDO:0019399; ORPHA:84142","Xref__c":"ORPHA:84142"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=305719002","Source__c":"C0242287; MONDO:0019399","Xref__c":"305719002"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=116151","Source__c":"C0242287","Xref__c":"MEDGEN:116151"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0242287","Source__c":"C0242287","Xref__c":"C0242287"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0034351","Source__c":"C0242287","Xref__c":"HP:0034351"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019399","Source__c":"GARD:0006793","Xref__c":"MONDO:0019399"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C202012","Source__c":"C0242287","Xref__c":"C202012"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=80138003","Source__c":"C0242287","Xref__c":"80138003"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C020386","Source__c":"C0242287","Xref__c":"D020386"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:84142","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduction of total body weight.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001824","HPO_Synonym__c":"Loss of weight","HPO_Name__c":"Weight loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:84142","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against contactin-associated protein-like 2 (CASPR2).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:5000005","HPO_Synonym__c":"Anti-Caspr2 antibody; Anti-contactin-associated protein-like 2 antibody","HPO_Name__c":"Anti-CASPR2","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:84142","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Sudden and involuntary contractions of one or more muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003394","HPO_Synonym__c":"Muscle cramps; Muscle spasms","HPO_Name__c":"Muscle spasm","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:84142","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002411","HPO_Name__c":"Myokymia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:84142","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002353","HPO_Synonym__c":"Abnormal EEG; Abnormal electroencephalogram; EEG abnormalities; Electroencephalogram abnormal; Electroencephalogram abnormalities","HPO_Name__c":"EEG abnormality","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:84142","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002380","HPO_Synonym__c":"Fasciculation; Muscle fasciculation; Muscle twitch","HPO_Name__c":"Fasciculations","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:84142","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Fine, rapid twitching of individual muscle fibers with little or no movement of the muscle as a whole as ascertained by electromyography (EMG). If a motor neuron or its axon is destroyed, the muscle fibers it innervates undergo denervation atrophy. This leads to hypersensitivity of individual muscle fibers to acetyl choline so that they may contract spontaneously. Isolated activity of individual muscle fibers is generally so fine it cannot be seen through the intact skin, although it can be recorded as a short-duration spike in the EMG.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010546","HPO_Synonym__c":"EMG: fibrillations on electromyogram","HPO_Name__c":"Muscle fibrillation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:84142","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of spontaneous bursts of rapidly firing potentials that recur at regular intervals of 2-10 per second and are unaffected by voluntary effort. This is an electromyographic (EMG) finding.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100288","HPO_Name__c":"EMG: myokymic discharges","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Procedure_EMG"}},{"Provided_By__c":"ORPHA:84142","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal reduction in sensation in the distal portions of the extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002936","HPO_Synonym__c":"Decreased distal sensation; Decreased sensation in extremities; Distal sensation loss; Distal sensory impairment in lower limbs; Distal sensory impairment of the lower extremities; Distal sensory loss; Distal sensory loss, upper and lower limbs; Loss of distal sensation","HPO_Name__c":"Distal sensory impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:84142","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A condition in which muscles cannot be moved quickly without accompanying pain or spasm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003552","HPO_Name__c":"Muscle stiffness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:84142","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Muscle hypertrophy affecting the calf muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008981","HPO_Synonym__c":"Calf hypertrophy; Increased size of calf muscles; Muscular hypertrophy of the calf muscles","HPO_Name__c":"Calf muscle hypertrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:84142","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000975","HPO_Synonym__c":"Diaphoresis; Excessive sweating; Increased sweating; Profuse sweating; Sweating; Sweating profusely; Sweating, increased","HPO_Name__c":"Hyperhidrosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:84142","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Reduced strength of muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001324","HPO_Synonym__c":"Muscle weakness; Muscular weakness","HPO_Name__c":"Muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Neurology"],"Specialist":["Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Peripheral Neuropathy"]},"synonyms":["acquired neuromyotonia"," continuous muscle fiber activity"," continuous muscle fiber activity syndrome"," continuous muscle fibre activity syndrome"," isaacs syndrome"," isaacs-mertens syndrome"," isaacs' syndrome"," neuromyotonia"," peripheral nerve hyperexcitability"," quantal squander syndrome"]}