{"Name":"Multifocal motor neuropathy","DiseaseID__c":"GARD:0011011","id":11011,"encodedName":"multifocal-motor-neuropathy","IsDeleted":false,"Disease_Name_Full__c":"Multifocal motor neuropathy","Xref_IDs__c":"230591002; C0393847; G61.82; MEDGEN:581615; MONDO:0018979; ORPHA:641","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":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018979","Disease_Description__c":"Multifocal motor neuropathy (MMN) is a rare acquired immune-mediatedneuropathy characterized clinically by a purely motor deficit with conduction block and asymmetric multifocal weakness, fasciculations, and cramping.","GARD_Name__c":"Multifocal motor neuropathy","GARD_Synonym__c":"mmn; mmn - motor neuropathy with multiple conduction block; mmncb; motor neuropathy with multiple conduction block; multifocal motor neuropathy with conduction block","Curated_Disease_Description_Source__c":"GARD:0011011","Curated_Disease_Description__c":"Multifocal motor neuropathy (MMN) causes damage to the nerves in the arms and legs. Nerve damage begins in adulthood and slowly gets worse over time. One side of the body may be more affected than the other. Symptoms of MMN may include weakness in the hands and lower arms; cramping; involuntary contractions or twitching; wrist drop or foot drop, and wasting of the affected muscles. MMN is thought to be due to an abnormal immune response, but the underlying cause is not clear. Diagnosis is based on the symptoms, clinical exam, and specific laboratory testing. Guidelines for diagnosis have been published.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:641","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018979","ORPHANET_ID__c":"ORPHA:641","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Neuropatía motora multifocal","Spanish_Description_Source__c":"ORPHA:641","Spanish_Description__c":"Es una neuropatía inmunomediada adquirida y poco frecuente caracterizada clínicamente por un déficit puramente motor, con bloqueo de la conducción y debilidad asimétrica multifocal, fasciculaciones y calambres.","Spanish_Disease_Name__c":"neuropatía motora multifocal","Spanish_GARD_Synonym__c":"mmn; mmncb; neuropatía motora multifocal con bloqueos de la conducción","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":"Multifocal motor neuropathy (MMN) causes damage to the nerves in the arms and legs. Nerve damage begins in adulthood and slowly gets worse over time. One side of the body may be more affected than the other. Symptoms of MMN may include weakness in the hands and lower arms; cramping; involuntary contractions or twitching; wrist drop or foot drop, and wasting of the affected muscles. MMN is thought to be due to an abnormal immune response, but the underlying cause is not clear. Diagnosis is based on the symptoms, clinical exam, and specific laboratory testing. Guidelines for diagnosis have been published.","Curated_Disease_Description_Source__c":"GARD:0011011","GARD_Synonym__c":"mmn; mmn - motor neuropathy with multiple conduction block; mmncb; motor neuropathy with multiple conduction block; multifocal motor neuropathy with conduction block","Name":"Multifocal motor neuropathy","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Muscular Dystrophy Canada","Website__c":"https://muscle.ca/"},{"Account_Name__c":"Inflammatory Neuropathies UK","Website__c":"https://www.inflammatoryneuropathies.uk/"},{"Account_Name__c":"GBS / CIDP Foundation of Canada","Website__c":"https://www.gbscidp.ca/"},{"Account_Name__c":"Guillain Barré Syndrome Support Group NZ Trust","Website__c":"https://gbsnz.org.nz/"},{"Account_Name__c":"GBS/CIDP Foundation International","Website__c":"https://www.gbs-cidp.org/"},{"Account_Name__c":"The Foundation for Peripheral Neuropathy","Website__c":"https://www.foundationforpn.org"},{"Account_Name__c":"Neuropathy Action Foundation","Website__c":"http://www.neuropathyaction.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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:641"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=230591002","Source__c":"C0393847; MONDO:0018979","Xref__c":"230591002"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0393847","Source__c":"C0393847","Xref__c":"C0393847"},{"URL__c":"https://www.orpha.net/en/disease/detail/641","Source__c":"C0393847; MONDO:0018979; ORPHA:641","Xref__c":"ORPHA:641"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/G61.82","Source__c":"MONDO:0018979","Xref__c":"G61.82"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=581615","Source__c":"C0393847","Xref__c":"MEDGEN:581615"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018979","Source__c":"GARD:0011011","Xref__c":"MONDO:0018979"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:641","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Blockade of impulses at a focal site along the course of a motor axon.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012078","HPO_Name__c":"Motor conduction block","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_NCV"}},{"Provided_By__c":"ORPHA:641","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Progressively reduced strength of the distal musculature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009063","HPO_Synonym__c":"Muscle weakness, distal, progressive; Muscle weakness, progressive, distal","HPO_Name__c":"Progressive distal muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:641","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004302","HPO_Synonym__c":"Functional motor problems","HPO_Name__c":"Functional motor deficit","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:641","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:641","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009077","HPO_Name__c":"Weakness of long finger extensor muscles","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:641","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003323","HPO_Synonym__c":"Muscle weakness, progressive; Progressive muscular weakness","HPO_Name__c":"Progressive muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:641","HPO_Frequency__c":"Frequent (30-79%)","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:641","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced strength and weakness of the muscles of the arms and legs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003690","HPO_Synonym__c":"Limb muscle weakness; Limb weakness","HPO_Name__c":"Limb muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:641","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Defects in the lysosomal glycosidases or specific co-activators, result in accumulation of the substrates, such as glycosphingolipids, including gangliosides in GM1 gangliosidosis (Tay-Sachs disease) and GM2 gangliosidosis (Sandhoff disease).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004345","HPO_Name__c":"Ganglioside accumulation","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:641","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006251","HPO_Name__c":"Limited wrist extension","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:641","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:641","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased concentration of protein in the cerebrospinal fluid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002922","HPO_Synonym__c":"Cerebrospinal fluid protein increased; Cerebrospinal fluid with increased protein; Elevated cerebrospinal fluid protein; Elevated csf protein; Hyperproteinorrhachia; Increased CSF protein; Increased protein in csf; Spinal fluid protein elevated","HPO_Name__c":"Increased CSF protein concentration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Lab"}}],"tags":{"Disease Category":["Neurology"],"Specialist":["Neurology","Neuromuscular medicine"],"Account":["Peripheral Neuropathy"]},"synonyms":["mmn"," mmn - motor neuropathy with multiple conduction block"," mmncb"," motor neuropathy with multiple conduction block"," multifocal motor neuropathy with conduction block"]}