{"Name":"Neuronopathy, distal hereditary motor, autosomal dominant 1","DiseaseID__c":"GARD:0016953","id":16953,"encodedName":"neuronopathy-distal-hereditary-motor-autosomal-dominant-1","IsDeleted":false,"Disease_Name_Full__c":"Neuronopathy, distal hereditary motor, autosomal dominant 1","Xref_IDs__c":"C132826; C1866784; C566675; DOID:0111200; MEDGEN:356618; MONDO:0008451; OMIM:182960; ORPHA:139518","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":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0008451","Disease_Description__c":"An autosomal dominant neurodegenerative disorder characterized by juvenile onset, distal motor weakness without sensory impairment, and anterior horn cell degeneration.","GARD_Name__c":"Neuronopathy, distal hereditary motor, autosomal dominant 1","GARD_Synonym__c":"autosomal dominant distal juvenile spinal muscular atrophy type 1; charcot-marie-tooth disease, spinal, i; dhmn1; distal hereditary motor neuronopathy type i; distal hereditary motor neuropathy type 1; hmn i; neuronopathy, distal hereditary motor, harding type i; neuronopathy, distal hereditary motor, type 1; neuronopathy, distal hereditary motor, type i; neuropathy, distal hereditary motor, harding type i; spinal muscular atrophy, distal, juvenile, autosomal dominant, harding type i","Curated_Disease_Description_Source__c":"ORPHA:139518","Curated_Disease_Description__c":"Distal hereditary motor neuropathy type 1 is a rare neuromuscular disease characterized by slowly-progressive lower limb muscular weakness and atrophy, without sensory impairment. Additional clinical features may include pes cavus, hammertoe and increased muscle tone.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:139518","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008451","ORPHANET_ID__c":"ORPHA:139518","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Neuropatía motora distal hereditaria tipo 1","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"neuropatía motora distal hereditaria tipo 1","Spanish_GARD_Synonym__c":"atrofia muscular espinal distal juvenil autosómica dominante tipo 1; dhmn1","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 hereditary motor neuropathy type 1 is a rare neuromuscular disease characterized by slowly-progressive lower limb muscular weakness and atrophy, without sensory impairment. Additional clinical features may include pes cavus, hammertoe and increased muscle tone.","Curated_Disease_Description_Source__c":"ORPHA:139518","GARD_Synonym__c":"autosomal dominant distal juvenile spinal muscular atrophy type 1; charcot-marie-tooth disease, spinal, i; dhmn1; distal hereditary motor neuronopathy type i; distal hereditary motor neuropathy type 1; hmn i; neuronopathy, distal hereditary motor, harding type i; neuronopathy, distal hereditary motor, type 1; neuronopathy, distal hereditary motor, type i; neuropathy, distal hereditary motor, harding type i; spinal muscular atrophy, distal, juvenile, autosomal dominant, harding type i","Name":"Neuronopathy, distal hereditary motor, autosomal dominant 1","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":"Adolescent","Provided_By__c":"ORPHA:139518"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:139518"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:139518"}],"External_Identifier_Disease__c":[{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C132826","Source__c":"C1866784; MONDO:0008451","Xref__c":"C132826"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566675","Source__c":"MONDO:0008451","Xref__c":"C566675"},{"URL__c":"https://www.orpha.net/en/disease/detail/139518","Source__c":"C1866784; MONDO:0008451; ORPHA:139518","Xref__c":"ORPHA:139518"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=356618","Source__c":"C1866784","Xref__c":"MEDGEN:356618"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111200","Source__c":"MONDO:0008451","Xref__c":"DOID:0111200"},{"URL__c":"https://www.omim.org/entry/182960","Source__c":"C1866784; MONDO:0008451; ORPHA:139518","Xref__c":"OMIM:182960"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1866784","Source__c":"C1866784","Xref__c":"C1866784"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008451","Source__c":"GARD:0016953","Xref__c":"MONDO:0008451"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=770630005","Source__c":"C1866784","Xref__c":"770630005"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:182960","Feature__r":{"HPO_Description__c":"Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003487","HPO_Synonym__c":"Extensor plantar reflexes; Extensor plantar response; Extensor plantar responses; Positive Babinski sign","HPO_Name__c":"Babinski sign","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:182960","Feature__r":{"HPO_Description__c":"An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001761","HPO_Synonym__c":"Cavus foot; High-arched foot","HPO_Name__c":"Pes cavus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:182960","Feature__r":{"HPO_Description__c":"Reduced strength of the musculature of the distal extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002460","HPO_Synonym__c":"Distal limb muscle weakness; Distal limb weakness; Distal muscular weakness; Distal paresis; Muscle weakness, distal; Muscle weakness, distal limbs, due to neuronopathy; Weakness of distal muscles; Weakness of outermost muscles","HPO_Name__c":"Distal muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:182960","Feature__r":{"HPO_Description__c":"A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001276","HPO_Synonym__c":"Hypertonicity; Increased muscle tone","HPO_Name__c":"Hypertonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:182960","Feature__r":{"HPO_Description__c":"An abnormality characterized by chronic impairment of the normal functioning of the axons.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007267","HPO_Synonym__c":"Chronic sural axonal neuropathy","HPO_Name__c":"Chronic axonal neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:182960","Feature__r":{"HPO_Description__c":"A decrease in the ability to perceive vibration at the ankles. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to the malleoli of the ankles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006938","HPO_Synonym__c":"Decreased vibration sense at ankles; Decreased vibration sense in feet; Impaired vibration sensation at ankles","HPO_Name__c":"Impaired vibration sensation at ankles","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:182960","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Weakness of the muscles of the arms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003484","HPO_Synonym__c":"Decreased arm strength; Weak arm","HPO_Name__c":"Upper limb muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:182960","Feature__r":{"HPO_Description__c":"Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001765","HPO_Synonym__c":"Hammer toe; Hammertoe; Hammertoes","HPO_Name__c":"Hammertoe","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:182960","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Peripheral Neuropathy"]},"synonyms":["autosomal dominant distal juvenile spinal muscular atrophy type 1"," charcot-marie-tooth disease, spinal, i"," dhmn1"," distal hereditary motor neuronopathy type i"," distal hereditary motor neuropathy type 1"," hmn i"," neuronopathy, distal hereditary motor, harding type i"," neuronopathy, distal hereditary motor, type 1"," neuronopathy, distal hereditary motor, type i"," neuropathy, distal hereditary motor, harding type i"," spinal muscular atrophy, distal, juvenile, autosomal dominant, harding type i"]}