{"orpha":209004,"name":"Polyneuropathy associated with IgM monoclonal gammopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare acquired peripheral neuropathy characterized by symmetric, slowly progressive, predominantly sensory neuropathy, mostly limited to the legs with numbness and paresthesia of the distal leg and mild imbalance. Some patients may experience pain, weakness of foot dorsiflexion, mild proximal leg weakness, and/or upper limb involvement. Systemic illnesses are absent in most cases.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-209004/","orphanet_url":"https://www.orpha.net/en/disease/detail/209004","names":{"fr":{"name":"Polyneuropathie associée à une gammopathie monoclonale IgM","definition":"Neuropathie périphérique acquise rare caractérisée par une neuropathie symétrique, lentement progressive, à prédominance sensitive, dans la plupart des cas limitée aux jambes avec engourdissement et paresthésie du segment distal de la jambe et léger déséquilibre. Certains patients peuvent ressentir des douleurs, une faiblesse des muscles responsables de la flexion dorsale du pied, une légère faiblesse du segment proximal de la jambe et/ou une atteinte des membres supérieurs. Les maladies systémiques sont absentes dans la plupart des cas."},"de":{"name":"Polyneuropathie mit assoziierter monoklonaler IgM-Gammopathie","definition":"Eine seltene erworbene periphere Neuropathie, die durch eine symmetrische, langsam fortschreitende, vorwiegend sensorische Neuropathie gekennzeichnet ist, die meist auf die Beine beschränkt ist und mit Taubheit und Parästhesie im distalen Bein sowie einem leichten Ungleichgewicht einhergeht. Bei einigen Patienten können Schmerzen, eine Schwäche der Fußdorsalflexion, eine leichte proximale Beinschwäche und/oder eine Beteiligung der oberen Gliedmaßen auftreten. Systemische Erkrankungen fehlen in den meisten Fällen."},"es":{"name":"Polineuropatía asociada con gammopatía monoclonal IgM","definition":"Es una neuropatía periférica adquirida poco frecuente caracterizada por una neuropatía predominantemente sensitiva, simétrica, lentamente progresiva, limitada principalmente a las piernas con entumecimiento y parestesia de la parte distal de la pierna y leve alteración del equilibrio. Algunos pacientes pueden experimentar dolor, debilidad en la dorsiflexión del pie, debilidad leve en la porción proximal de las piernas y/o afectación de las extremidades superiores. Las enfermedades sistémicas están ausentes en la mayoría de los casos."},"it":{"name":"Polineuropatia assonale associata a gammopatia monoclonale IgG/IgM/IgA"},"nl":{"name":"Polyneuropathie geassocieerd met monoklonale IgM-gammopathie","definition":"Een zeldzame verworven perifere neuropathie, gekenmerkt door symmetrische, traag progressieve, overwegend sensorische neuropathie, meestal beperkt tot de benen met gevoelloosheid en paresthesie van distaal been en mild verstoord evenwicht. Sommige patiënten ervaren mogelijk pijn, zwakte van dorsaalflexie van de voet, milde zwakte van proximaal been, en/of betrokkenheid van bovenste ledematen. Systemische ziekten zijn in de meeste gevallen afwezig."},"pt":{"name":"Polineuropatia associada a gamopatia monoclonal IgM","definition":"Neuropatia periférica adquirida rara, caracterizada por neuropatia simétrica, lentamente progressiva, predominantemente sensorial, limitada principalmente às pernas, com dormência e parestesia da perna distal e desequilíbrio leve. Alguns doentes podem sentir dor, fraqueza na dorsiflexão do pé, leve fraqueza proximal nas pernas e/ou envolvimento dos membros superiores. A maioria dos doentes tem gamopatia monoclonal IgG. Manifestações sistémicas estão ausentes na maioria dos casos."},"pl":{"name":"Polineuropatia aksonalna związana z gammapatią monoklonalną IgG/IgA/IgM"},"cs":{"name":"Axonální polyneuropatie asociovaná s IgG/IgM/IgA monoklonální gamapatií"},"uk":{"name":"Аксональна полінейропатія, асоційована з моноклональною гамма-патією IgG/IgM/IgA","definition":"A rare acquired peripheral neuropathy characterized by symmetric, slowly progressive, predominantly sensory neuropathy, mostly limited to the legs with numbness and paresthesia of the distal leg and mild imbalance. Some patients may experience pain, weakness of foot dorsiflexion, mild proximal leg weakness, and/or upper limb involvement. The majority of patients have IgG monoclonal gammopathy. Systemic illnesses are absent in most cases."},"zh":{"name":"与IgG/IgM/IgA单克隆丙种球蛋白病相关的轴索性多发性神经病"},"tr":{"name":"IgG/IgM/IgA monoklonal gammopati -ilişkili aksonal polinöropati"}},"xrefs":[{"source":"ICD-10","code":"G61.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016176","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680822","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":639,"name":"Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG","status":"inactive"}],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":209010,"name":"Peripheral neuropathy associated with monoclonal gammopathy","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Annual incidence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-09-19","source":"14641513[PMID]_10540371[PMID]_8380902[PMID]_7953603[PMID]_1706212[PMID]_19720975[PMID]_8673490[PMID]","terms":[{"hpo":"HP:0011402","label":"Demyelinating sensory neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002166","label":"Impaired vibration sensation in the lower limbs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007133","label":"Progressive peripheral neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007267","label":"Chronic axonal neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007220","label":"Demyelinating motor neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003693","label":"Distal amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002936","label":"Distal sensory impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100287","label":"EMG: slow motor conduction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007340","label":"Lower limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007002","label":"Motor axonal neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031006","label":"Acroparesthesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012514","label":"Lower limb pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005508","label":"Monoclonal immunoglobulin M proteinemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007240","label":"Progressive gait ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003390","label":"Sensory axonal neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100778","label":"Cryoglobulinemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0025346","label":"Increased circulating beta-2-microglobulin level","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002665","label":"Lymphoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006775","label":"Multiple myeloma","frequency":"Very rare (<4-1%)","criteria":null}]}}