{"Name":"Severe early-onset axonal neuropathy due to MFN2 deficiency","DiseaseID__c":"GARD:0019123","id":19123,"encodedName":"severe-early-onset-axonal-neuropathy-due-to-mfn2-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Severe early-onset axonal neuropathy due to MFN2 deficiency","Xref_IDs__c":"766977007; C4707897; MEDGEN:1641956; MONDO:0019549; ORPHA:90118","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"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:0019549","Disease_Description__c":"Severe early-onset axonal neuropathy due to MFN2 deficiency is a rare axonal hereditary motor and sensory neuropathy characterized by early onset (<10 years) progressive distal muscle weakness and wasting of the lower limbs and later, to a lesser extent the upper limbs resulting in foot and wrist drop, areflexia, skeletal deformities (kyphoscoliosis, pes cavus with flattening, joint contractures), mild sensory impairment with vibration sense reduced to a greater extent than pain, optic atrophy and hearing loss. Wheelchair dependence by adolescence is usual and respiratory impairment with diaphragmatic paralysis may develop.","GARD_Name__c":"Severe early-onset axonal neuropathy due to MFN2 deficiency","GARD_Synonym__c":"ar-cmt2, ouvrier type; autosomal recessive charcot-marie-tooth disease ouvrier type; autosomal recessive charcot-marie-tooth disease, ouvrier type; seoan due to mfn2 deficiency; severe early-onset axonal neuropathy due to mfn2 (mitofusin 2) deficiency; severe early-onset axonal neuropathy due to mitofusin 2 deficiency","Curated_Disease_Description_Source__c":"MONDO:0019549","Curated_Disease_Description__c":"Severe early-onset axonal neuropathy due to MFN2 deficiency is a rare axonal hereditary motor and sensory neuropathy characterized by early onset (<10 years) progressive distal muscle weakness and wasting of the lower limbs and later, to a lesser extent the upper limbs resulting in foot and wrist drop, areflexia, skeletal deformities (kyphoscoliosis, pes cavus with flattening, joint contractures), mild sensory impairment with vibration sense reduced to a greater extent than pain, optic atrophy and hearing loss. Wheelchair dependence by adolescence is usual and respiratory impairment with diaphragmatic paralysis may develop.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:90118","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019549","ORPHANET_ID__c":"ORPHA:90118","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Neuropatía axonal grave de inicio precoz por deficiencia de mfn2","Spanish_Description_Source__c":"ORPHA:90118","Spanish_Description__c":"La neuropatía axonal grave de inicio temprano por deficiencia de MFN2, es una neuropatía sensitivo-motora hereditaria axonal poco frecuente caracterizada por un inicio temprano (<10 años) de debilidad muscular distal progresiva y atrofia de las extremidades inferiores y posteriormente, en menor medida, de las extremidades superiores que resultan en caída de pie y muñeca, arreflexia, malformaciones esqueléticas (cifoescoliosis, pes cavus con aplanamiento, contracturas articulares), leve alteración sensitiva con disminución de la sensibilidad vibratoria en mayor medida que el dolor, la atrofia óptica y la pérdida auditiva. La dependencia de la silla de ruedas en la adolescencia es habitual y puede desarrollarse insuficiencia respiratoria con parálisis diafragmática.","Spanish_Disease_Name__c":"neuropatía axonal grave de inicio precoz por deficiencia de mfn2","Spanish_GARD_Synonym__c":"cmt2-ar tipo ouvrier; enfermedad de charcot-marie-tooth autosómica recesiva tipo ouvrier; seoan por deficiencia de mfn2","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":"Severe early-onset axonal neuropathy due to MFN2 deficiency is a rare axonal hereditary motor and sensory neuropathy characterized by early onset (<10 years) progressive distal muscle weakness and wasting of the lower limbs and later, to a lesser extent the upper limbs resulting in foot and wrist drop, areflexia, skeletal deformities (kyphoscoliosis, pes cavus with flattening, joint contractures), mild sensory impairment with vibration sense reduced to a greater extent than pain, optic atrophy and hearing loss. Wheelchair dependence by adolescence is usual and respiratory impairment with diaphragmatic paralysis may develop.","Curated_Disease_Description_Source__c":"MONDO:0019549","GARD_Synonym__c":"ar-cmt2, ouvrier type; autosomal recessive charcot-marie-tooth disease ouvrier type; autosomal recessive charcot-marie-tooth disease, ouvrier type; seoan due to mfn2 deficiency; severe early-onset axonal neuropathy due to mfn2 (mitofusin 2) deficiency; severe early-onset axonal neuropathy due to mitofusin 2 deficiency","Name":"Severe early-onset axonal neuropathy due to MFN2 deficiency","estimateUsa":""}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"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":"Childhood","Provided_By__c":"ORPHA:90118"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4707897","Source__c":"C4707897","Xref__c":"C4707897"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=766977007","Source__c":"C4707897; MONDO:0019549","Xref__c":"766977007"},{"URL__c":"https://www.orpha.net/en/disease/detail/90118","Source__c":"C4707897; MONDO:0019549; ORPHA:90118","Xref__c":"ORPHA:90118"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1641956","Source__c":"C4707897","Xref__c":"MEDGEN:1641956"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019549","Source__c":"GARD:0019123","Xref__c":"MONDO:0019549"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MFN2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/mfn2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Peripheral Neuropathy"]},"synonyms":["ar-cmt2, ouvrier type"," autosomal recessive charcot-marie-tooth disease ouvrier type"," autosomal recessive charcot-marie-tooth disease, ouvrier type"," seoan due to mfn2 deficiency"," severe early-onset axonal neuropathy due to mfn2 (mitofusin 2) deficiency"," severe early-onset axonal neuropathy due to mitofusin 2 deficiency"]}