{"orpha":324442,"name":"Autosomal recessive axonal neuropathy with neuromyotonia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ARAN-NM","ARCMT2-NM","Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia"],"definition":"A rare peripheral neuropathy characterized by slowly progressive axonal, motor greater than sensory, polyneuropathy combined with neuromytonia (including spontaneous muscular activity at rest (myokymia), impaired muscle relaxation (pseudomyotonia), and contractures of hands and feet) and neuromyotonic or myokymic discharges on needle EMG. It presents with distal lower limb weakness with gait impairment, muscle stiffness, fasciculations and cramps in hands and legs worsened by cold, decreased to absent tendon reflexes, intrinsic hand muscle atrophy and, variably, mild distal sensory impairment.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-324442/","orphanet_url":"https://www.orpha.net/en/disease/detail/324442","names":{"fr":{"name":"Neuropathie axonale autosomique récessive avec neuromyotonie","synonyms":["ARAN-NM","ARCMT2-NM","Maladie de Charcot-Marie-Tooth autosomique récessive type 2 avec neuromyotonie"],"definition":"Neuropathie périphérique rare caractérisée par une polyneuropathie axonale lentement progressive, davantage motrice que sensorielle, associée à une neuromytonie (comprenant une activité musculaire spontanée au repos [myokymie], une altération de la relaxation musculaire [pseudomyotonie] et des contractures des mains et des pieds) et à des décharges neuromyotoniques ou myokymiques à l'EMG à l'aiguille. La maladie se manifeste par une faiblesse distale des membres inférieurs avec des troubles de la marche, une raideur musculaire, des fasciculations et des crampes dans les mains et les jambes aggravées par le froid, une diminution ou une absence de réflexes tendineux, une atrophie intrinsèque des muscles de la main et, de façon variable, une légère déficience sensorielle distale."},"de":{"name":"Axonale Neuropathie mit Neuromyotonie, autosomal-rezessiv","synonyms":["Charcot-Marie-Tooth-Krankheit, autosomal-rezessive, Typ 2, mit Neuromyotonie","ARAN-NM","ARCMT2-NM"]},"es":{"name":"Neuropatía axonal autosómica recesiva con neuromiotonía","synonyms":["ARAN-NM","ARCMT2-NM","Enfermedad de Charcot-Marie-Tooth autosómica recesiva tipo 2 con neuromiotonía"],"definition":"Es una neuropatía periférica poco frecuente caracterizada por polineuropatía axonal de progresión lenta, motora más que sensitiva, combinada con neuromiotonía (que incluye actividad muscular espontánea en reposo (mioquimia), relajación muscular alterada (pseudomiotonía) y contracturas en manos y pies), así como descargas neuromiotónicas o mioquímicas en la EMG con aguja. Presenta debilidad distal en las extremidades inferiores con alteración de la marcha, rigidez muscular, fasciculaciones y calambres en manos y piernas que empeoran con el frío, reflejos tendinosos de reducidos a ausentes, atrofia intrínseca de la musculatura de la mano y, de forma variable, leve afectación sensitiva distal."},"it":{"name":"Neuropatia assonale autosomica recessiva con neuromiotonia","synonyms":["ARAN-NM","ARCMT2-NM","Malattia di Charcot-Marie-Tooth tipo 2, autosomica recessiva, con neuromiotonia"],"definition":"La neuropatia assonale autosomica recessiva con neuromiotonia è una neuropatia periferica rara, caratterizzata da polineuropatia assonale soprattutto motoria piuttosto che sensoriale, a progressione lenta, associata a neuromiotonia, inclusiva di attività muscolare spontanea a riposo (miochimia), compromissione del rilassamento muscolare (pseudomiotonia) e contratture delle mani e dei piedi. L'EMG ad ago mostra scariche neuromiotoniche o miochimiche. La malattia esordisce con debolezza della porzione distale degli arti inferiori, associata a compromissione dell'andatura, rigidità muscolare, fascicolazioni e crampi alle mani e ai piedi che peggiorano con in freddo, diminuzione o assenza dei riflessi tendinei, atrofia dei muscoli intrinseci delle mani e lieve deficit sensoriale distale."},"nl":{"name":"Autosomaal recessieve axonale neuropathie met neuromyotonie","synonyms":["ARAN-NM","ARCMT2-NM","Autosomaal recessieve ziekte van Charcot-Marie-Tooth type 2 met neuromyotonie"],"definition":"Een zeldzame, perifere neuropathie, gekarakteriseerd door traag progressieve axonale, meer motorische dan sensorische, polyneuropathie in combinatie met neuromyotonie (inclusief spontane musculaire activiteit in rust (myokymie), verstoorde spierrelaxatie (pseudomyotonie), en contracturen van handen en voeten) en neuromyotonische of myokymische ontladingen op naald-EMG. Het uit zich met zwakte van distale onderste ledematen en gangstoornis, stijfheid van spieren, fasciculaties en krampen in handen en benen die verergeren bij koude, verminderde tot afwezige peesreflexen, atrofie van intrinsieke handspieren en, variabel, milde distale zintuiglijke stoornissen."},"pt":{"name":"Neuropatia axonal autossómica recessiva com neuromiotonia"},"pl":{"name":"Autosomalna recesywna neuropatia aksonalna z neuromiotonią","synonyms":["ARAN-NM","ARCMT2-NM","Autosomalna recesywna choroba Charcota, Mariego i Tootha typu 2 z neuromiotonią"]},"cs":{"name":"Autozomálně recesivní axonální neuropatie s neuromyotonií","synonyms":["ARAN-NM","ARCMT2-NM","Autozomálně recesivní Charcotova-Marieova-Toothova nemoc, typ 2 s neuromyotonií","Autozomálně recesivní Charcot-Marie-Toothova nemoc, typ 2 s neuromyotonií"]},"uk":{"name":"Аутосомно-рецесивна аксональна нейропатія з нейроміотонією","synonyms":["ARAN-NM","ARCMT2-NM","Аутосомно-рецесивна хвороба Шарко-Марі-Тута 2 типу з нейроміотонією"],"definition":"A rare peripheral neuropathy characterized by slowly progressive axonal, motor greater than sensory, polyneuropathy combined with neuromytonia (including spontaneous muscular activity at rest (myokymia), impaired muscle relaxation (pseudomyotonia), and contractures of hands and feet) and neuromyotonic or myokymic discharges on needle EMG. It presents with distal lower limb weakness with gait impairment, muscle stiffness, fasciculations and cramps in hands and legs worsened by cold, decreased to absent tendon reflexes, intrinsic hand muscle atrophy and, variably, mild distal sensory impairment."},"zh":{"name":"常染色体隐性遗传轴索性神经病伴神经性肌强直","synonyms":["常染色体隐性夏科-马里-图斯病2型伴神经性肌强直"],"definition":"一种罕见的周围神经病，其特征为轴突缓慢进行性多发性神经病，其运动缺失多于感觉，合并神经细胞瘤(包括静止时自发的肌肉活动(肌纤维颤搐)、肌肉松弛受损(假性肌强直)和手脚挛缩）以及针极肌电图上的神经肌强直或肌纤维颤搐放电。它表现为远端下肢无力，伴有步态障碍、肌肉僵硬、手和腿的肌束震颤和痛性痉挛，因寒冷而恶化，至无腱反射，固有的手部肌肉萎缩，以及不同程度的轻度远端感觉障碍。"},"tr":{"name":"Nöromiyotoni ile seyreden otozomal resesif aksonal nöropati","synonyms":["ARAN-NM","ARCMT2-NM","Nöromiyotoni ile seyreden otozomal çekinik Charcot-Marie-Tooth hastalığı tip 2"]}},"xrefs":[{"source":"OMIM","code":"137200","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0007646","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5700127","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12353","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":91024,"name":"Autosomal recessive axonal hereditary motor and sensory neuropathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"HINT1","name":"histidine triad nucleotide binding protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22961002[PMID]","hgnc":"4912","ensembl":"ENSG00000169567","omim":"601314","loci":["5q23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":33.0,"area":"Worldwide","status":"Validated","source":"22961002[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-03-04","source":"30001929[PMID]_24131582[PMID]_30006059[PMID]_22961002[PMID]_1851512[PMID]","terms":[{"hpo":"HP:0009053","label":"Distal lower limb muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003444","label":"EMG: chronic denervation signs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100288","label":"EMG: myokymic discharges","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002411","label":"Myokymia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002486","label":"Myotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001760","label":"Abnormal foot morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003438","label":"Absent Achilles reflex","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003546","label":"Exercise intolerance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003710","label":"Exercise-induced muscle cramps","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030198","label":"Fatigable weakness of distal limb muscles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002359","label":"Frequent falls","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012899","label":"Handgrip myotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007289","label":"Limb fasciculations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007002","label":"Motor axonal neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007178","label":"Motor polyneuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001771","label":"Achilles tendon contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008944","label":"Distal lower limb amyotrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003409","label":"Distal sensory impairment of all modalities","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008991","label":"Exercise-induced leg cramps","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009027","label":"Foot dorsiflexor weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009130","label":"Hand muscle atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002166","label":"Impaired vibration sensation in the lower limbs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008954","label":"Intrinsic hand muscle atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002505","label":"Loss of ambulation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003552","label":"Muscle stiffness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003760","label":"Percussion-induced rapid rolling muscle contractions","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009049","label":"Peroneal muscle atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003390","label":"Sensory axonal neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003376","label":"Steppage gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002273","label":"Tetraparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009077","label":"Weakness of long finger extensor muscles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009005","label":"Weakness of the intrinsic hand muscles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002356","label":"Writer's cramp","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004686","label":"Short third metatarsal","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001171","label":"Split hand","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002943","label":"Thoracic scoliosis","frequency":"Very rare (<4-1%)","criteria":null}]}}