{"orpha":137867,"name":"Madras motor neuron disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MMND"],"definition":"Madras motor neuron disease (MMND) is characterized by weakness and atrophy of limbs, multiple lower cranial nerve palsies and sensorineural hearing loss.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-137867/","orphanet_url":"https://www.orpha.net/en/disease/detail/137867","names":{"fr":{"name":"Maladie du motoneurone type Madras","definition":"La maladie du motoneurone type Madras (MMNM) est caractérisée par une faiblesse et une atrophie des muscles des membres, de multiples paralysies des nerfs crâniens inférieurs et une surdité neurosensorielle."},"de":{"name":"Motoneuron-Krankheit Madras","synonyms":["MMND"],"definition":"Die Motorneuron-Krankheit Madras (MMND) ist gekennzeichnet durch schwache und atrophische Gliedmaßen, multiple Paresen der unteren Hirnnerven und Schallempfindungs-Schwerhörigkeit."},"es":{"name":"Enfermedad de las motoneuronas de Madras","definition":"El patrón Madras de enfermedad de las neuronas motoras (MMND, por sus siglas en inglés) se caracteriza por: debilidad y atrofia de las extremidades, parálisis de los nervios craneales inferiores y sordera neurosensorial."},"it":{"name":"Malattia dei motoneuroni di Madras","synonyms":["MMND"]},"nl":{"name":"Motorneuronziekte van Madras","synonyms":["MMND"],"definition":"Motorneuronziekte van Madras (MMND) wordt gekenmerkt door zwakte en atrofie van ledematen, multipele onderste hersenzenuwverlammingen, en sensorineuraal gehoorverlies."},"pt":{"name":"Doença do neurónio motor Madras","definition":"A doença do neurónio motor Madras (MMND) é caracterizada por fraqueza e atrofia dos membros, paralisia de múltiplos nervos cranianos inferiores e perda auditiva neurossensorial."},"pl":{"name":"Choroba neuronu ruchowego z Madrasu","synonyms":["MMND"]},"cs":{"name":"Madráská nemoc motorických neuronů","synonyms":["MMND"]},"uk":{"name":"Мадраська хвороба рухових нейронів","synonyms":["MMND"],"definition":"Madras motor neuron disease (MMND) is characterized by weakness and atrophy of limbs, multiple lower cranial nerve palsies and sensorineural hearing loss."},"zh":{"name":"Madras运动神经元病","synonyms":["MMND"],"definition":"Madras运动神经元病（MMND）以肢体无力和萎缩、多发性下颅神经麻痹和感音神经性听觉丧失为特征。"},"tr":{"name":"Madras motor nöron hastalığı","synonyms":["MMND"]}},"xrefs":[{"source":"ICD-10","code":"G12.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8B60.7","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1764644031"},{"source":"MONDO","code":"0015307","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0393551","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98505,"name":"Genetic motor neuron disease","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable","X-linked recessive"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":200.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"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":"2016-10-11","source":"18261745[PMID]","terms":[{"hpo":"HP:0001283","label":"Bulbar palsy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003693","label":"Distal amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002460","label":"Distal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006801","label":"Hyperactive deep tendon reflexes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007289","label":"Limb fasciculations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001621","label":"Weak voice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001317","label":"Abnormal cerebellum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100753","label":"Schizophrenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000360","label":"Tinnitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010628","label":"Facial palsy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Very rare (<4-1%)","criteria":null}]}}