{"Name":"Neuronopathy, distal hereditary motor, autosomal recessive 3","DiseaseID__c":"GARD:0016956","id":16956,"encodedName":"neuronopathy-distal-hereditary-motor-autosomal-recessive-3","IsDeleted":false,"Disease_Name_Full__c":"Neuronopathy, distal hereditary motor, autosomal recessive 3","Xref_IDs__c":"C1846823; C564626; DOID:0111211; MEDGEN:337659; MONDO:0011771; OMIM:607088; ORPHA:139547","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0011771","Disease_Description__c":"Distal spinal muscular atrophy type 3 is a rare neuromuscular disease characterized by progressive muscular weakness and atrophy predominantly affecting distal parts of limbs, later involvement of proximal and trunk muscles with marked hyperlordosis and late diaphragmatic dysfunction.","GARD_Name__c":"Neuronopathy, distal hereditary motor, autosomal recessive 3","GARD_Synonym__c":"autosomal recessive distal spinal muscular atrophy type 3; dhmn3 and dhmn4; distal hereditary motor neuropathy type 3 and type 4; distal spinal muscular atrophy type 3; distal spinal muscular atrophy, autosomal recessive 3; dsma3; hmn iii; hmn iv; neuronopathy, distal hereditary motor, harding type iii; neuronopathy, distal hereditary motor, harding type iv; neuropathy, distal hereditary motor, autosomal recessive 3; neuropathy, distal hereditary motor, harding type iv; spinal muscular atrophy, chronic distal, autosomal recessive","Curated_Disease_Description_Source__c":"MONDO:0011771","Curated_Disease_Description__c":"Distal spinal muscular atrophy type 3 is a rare neuromuscular disease characterized by progressive muscular weakness and atrophy predominantly affecting distal parts of limbs, later involvement of proximal and trunk muscles with marked hyperlordosis and late diaphragmatic dysfunction.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:139547","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011771","ORPHANET_ID__c":"ORPHA:139547","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Atrofia muscular espinal distal tipo 3","Spanish_Description_Source__c":"ORPHA:139547","Spanish_Description__c":"La atrofia muscular espinal distal tipo 3, es una enfermedad neuromuscular poco frecuente caracterizada por debilidad muscular progresiva y atrofia que afecta preferentemente a las partes distales de las extremidades, con afectación posterior de los músculos proximales y del tronco, marcada hiperlordosis y disfunción diafragmática tardía.","Spanish_Disease_Name__c":"atrofia muscular espinal distal tipo 3","Spanish_GARD_Synonym__c":"atrofia muscular espinal distal autosómica recesiva tipo 3; dhmn3 y dhmn4; dsma3; neuropatía motora hereditaria distal tipo 3 y tipo 4","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":"Distal spinal muscular atrophy type 3 is a rare neuromuscular disease characterized by progressive muscular weakness and atrophy predominantly affecting distal parts of limbs, later involvement of proximal and trunk muscles with marked hyperlordosis and late diaphragmatic dysfunction.","Curated_Disease_Description_Source__c":"MONDO:0011771","GARD_Synonym__c":"autosomal recessive distal spinal muscular atrophy type 3; dhmn3 and dhmn4; distal hereditary motor neuropathy type 3 and type 4; distal spinal muscular atrophy type 3; distal spinal muscular atrophy, autosomal recessive 3; dsma3; hmn iii; hmn iv; neuronopathy, distal hereditary motor, harding type iii; neuronopathy, distal hereditary motor, harding type iv; neuropathy, distal hereditary motor, autosomal recessive 3; neuropathy, distal hereditary motor, harding type iv; spinal muscular atrophy, chronic distal, autosomal recessive","Name":"Neuronopathy, distal hereditary motor, autosomal recessive 3","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Cure SMA","Website__c":"https://www.curesma.org/"},{"Account_Name__c":"Muscular Dystrophy Association","Website__c":"https://www.mda.org"}],"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":"Infancy","Provided_By__c":"ORPHA:139547"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:139547"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:139547"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:139547"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/139547","Source__c":"C1846823; MONDO:0011771; ORPHA:139547","Xref__c":"ORPHA:139547"},{"URL__c":"https://www.omim.org/entry/607088","Source__c":"C1846823; MONDO:0011771; ORPHA:139547","Xref__c":"OMIM:607088"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=337659","Source__c":"C1846823","Xref__c":"MEDGEN:337659"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564626","Source__c":"MONDO:0011771","Xref__c":"C564626"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111211","Source__c":"MONDO:0011771","Xref__c":"DOID:0111211"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1846823","Source__c":"C1846823","Xref__c":"C1846823"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=770430000","Source__c":"C1846823","Xref__c":"770430000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011771","Source__c":"GARD:0016956","Xref__c":"MONDO:0011771"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:607088","Feature__r":{"HPO_Description__c":"Muscular atrophy affecting muscles in the distal portions of the extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003693","HPO_Synonym__c":"Amyotrophy of distal limb muscles; Distal amyotrophy, especially of the hands and feet; Distal limb muscle atrophy; Distal muscle atrophy; Distal muscle atrophy, upper and lower limbs; Distal muscle degeneration; Distal muscle wasting; Distal muscular atrophy; Muscle atrophy, distal","HPO_Name__c":"Distal amyotrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607088","Feature__r":{"HPO_Description__c":"Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003307","HPO_Synonym__c":"Lordosis; Prominent swayback","HPO_Name__c":"Hyperlordosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607088","Feature__r":{"HPO_Description__c":"An abnormal reduction on the vital capacity, which is defined as the total lung capacity (volume of air in the lungs at maximal inflation) less the residual volume (i.e., volume of air in the lungs following maximal exhalation) of the lung.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002792","HPO_Synonym__c":"Decreased vital capacity","HPO_Name__c":"Reduced vital capacity","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Procedure_PFT"}},{"Provided_By__c":"OMIM:607088","Feature__r":{"HPO_Description__c":"Atrophy of the interosseus muscles (including the palmar interossei that lie on the anterior aspect of the metacarpals, the dorsal interosseus muscles of the hand, which lie between the intercarpals, the plantar interosseus muscles, which lie underneath the metatarsal bones, and the dorsal interossei, which are located between the metatarsal bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007181","HPO_Synonym__c":"Interosseous muscular atrophy","HPO_Name__c":"Interosseus muscle atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607088","Feature__r":{"HPO_Description__c":"The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003445","HPO_Synonym__c":"EMG: neurogenic abnormalities; EMG: neurogenic changes; EMG: neurogenic findings","HPO_Name__c":"EMG: neuropathic changes","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Procedure_EMG"}},{"Provided_By__c":"OMIM:607088","Feature__r":{"HPO_Description__c":"Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007269","HPO_Synonym__c":"Spinal muscle degeneration; Spinal muscle wasting","HPO_Name__c":"Spinal muscular atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607088","Feature__r":{"HPO_Description__c":"Reduced strength of the distal musculature of the legs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009053","HPO_Synonym__c":"Distal muscle weakness in lower limbs; Muscle weakness, lower limb, distal","HPO_Name__c":"Distal lower limb muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607088","Feature__r":{"HPO_Description__c":"A decrease in the strength of the diaphragm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009113","HPO_Synonym__c":"Diaphragmatic paraparesis; Weak diaphragm","HPO_Name__c":"Diaphragmatic weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Peripheral Neuropathy"]},"synonyms":["autosomal recessive distal spinal muscular atrophy type 3"," dhmn3 and dhmn4"," distal hereditary motor neuropathy type 3 and type 4"," distal spinal muscular atrophy type 3"," distal spinal muscular atrophy, autosomal recessive 3"," dsma3"," hmn iii"," hmn iv"," neuronopathy, distal hereditary motor, harding type iii"," neuronopathy, distal hereditary motor, harding type iv"," neuropathy, distal hereditary motor, autosomal recessive 3"," neuropathy, distal hereditary motor, harding type iv"," spinal muscular atrophy, chronic distal, autosomal recessive"]}