{"Name":"Neuronopathy, distal hereditary motor, autosomal dominant 8","DiseaseID__c":"GARD:0001474","id":1474,"encodedName":"neuronopathy-distal-hereditary-motor-autosomal-dominant-8","IsDeleted":false,"Disease_Name_Full__c":"Neuronopathy, distal hereditary motor, autosomal dominant 8","Xref_IDs__c":"763067000; C1838492; C563981; DOID:0111215; MEDGEN:373984; MONDO:0010839; OMIM:600175; ORPHA:1216","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":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0010839","Disease_Description__c":"A rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordisis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfuntion are usually also associated.","GARD_Name__c":"Neuronopathy, distal hereditary motor, autosomal dominant 8","GARD_Synonym__c":"autosomal dominant benign distal spinal muscular atrophy; autosomal dominant congenital benign spinal muscular atrophy; congenital benign spinal muscular atrophy with contracture; congenital benign spinal muscular atrophy with contractures; congenital nonprogressive spinal muscular atrophy; neuronopathy, distal hereditary motor, type viii; neuropathy, distal hereditary motor, type viii; spinal muscular atrophy, congenital benign, with contractures","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Autosomal dominant congenital benign spinal muscular atrophy is a rare disease that affects the muscles in the lower limbs. It is usually present at birth and causes weakness and wasting of the muscles in the legs, as well as joint problems such as contractures (overly tight muscles) and hyperlaxity (overly loose muscles). Other symptoms may include abnormal bones, late walking, and bladder and bowel issues.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:1216","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010839","ORPHANET_ID__c":"ORPHA:1216","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Atrofia muscular espinal benigna congénita autosómica dominante","Spanish_Description_Source__c":"ORPHA:1216","Spanish_Description__c":"Es una neuropatía motora distal hereditaria poco frecuente, con un fenotipo clínico variable, caracterizada por debilidad y atrofia muscular congénita, no progresiva, predominantemente distal, de las extremidades inferiores, así como por contracturas en flexión congénitas (o de inicio temprano) de las articulaciones de la cadera, rodilla y tobillo. Por lo general, también se asocian reflejos osteotendinosos reducidos o ausentes en las extremidades inferiores, anomalías esqueléticas (talipes equinovarus bilateral, escoliosis, cifoescoliosis, hiperlordosis lumbar), deambulación tardía, marcha anserina, hiperlaxitud articular y/o disfunción vesical e intestinal.","Spanish_Disease_Name__c":"atrofia muscular espinal benigna congénita autosómica dominante","Spanish_GARD_Synonym__c":"atrofia muscular espinal benigna congénita con contracturas; atrofia muscular espinal congénita no regresiva; atrofia muscular espinal distal benigna autosómica dominante","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":"Autosomal dominant congenital benign spinal muscular atrophy is a rare disease that affects the muscles in the lower limbs. It is usually present at birth and causes weakness and wasting of the muscles in the legs, as well as joint problems such as contractures (overly tight muscles) and hyperlaxity (overly loose muscles). Other symptoms may include abnormal bones, late walking, and bladder and bowel issues.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"autosomal dominant benign distal spinal muscular atrophy; autosomal dominant congenital benign spinal muscular atrophy; congenital benign spinal muscular atrophy with contracture; congenital benign spinal muscular atrophy with contractures; congenital nonprogressive spinal muscular atrophy; neuronopathy, distal hereditary motor, type viii; neuropathy, distal hereditary motor, type viii; spinal muscular atrophy, congenital benign, with contractures","Name":"Neuronopathy, distal hereditary motor, autosomal dominant 8","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Muscular Dystrophy Canada","Website__c":"https://muscle.ca/"}],"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":"Neonatal","Provided_By__c":"ORPHA:1216"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:1216"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001474","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK201366","Source__c":"Gene Review","Xref__c":"NBK201366"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111215","Source__c":"MONDO:0010839","Xref__c":"DOID:0111215"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563981","Source__c":"MONDO:0010839","Xref__c":"C563981"},{"URL__c":"https://www.orpha.net/en/disease/detail/1216","Source__c":"C1838492; MONDO:0010839; ORPHA:1216","Xref__c":"ORPHA:1216"},{"URL__c":"https://www.omim.org/entry/600175","Source__c":"C1838492; MONDO:0010839; ORPHA:1216","Xref__c":"OMIM:600175"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=373984","Source__c":"C1838492","Xref__c":"MEDGEN:373984"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1838492","Source__c":"C1838492","Xref__c":"C1838492"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=763067000","Source__c":"C1838492; MONDO:0010839","Xref__c":"763067000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010839","Source__c":"GARD:0001474","Xref__c":"MONDO:0010839"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TRPV4","GHR_URL__c":"https://medlineplus.gov/genetics/gene/trpv4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1216","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004326","HPO_Synonym__c":"Wasting syndrome","HPO_Name__c":"Cachexia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1216","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:1216","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Muscular atrophy that does not display a progression in severity with time.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008964","HPO_Name__c":"Nonprogressive muscular atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1216","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001252","HPO_Synonym__c":"Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia","HPO_Name__c":"Hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1216","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001387","HPO_Synonym__c":"Joint stiffness; Stiff joint; Stiff joints","HPO_Name__c":"Joint stiffness","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 benign distal spinal muscular atrophy"," autosomal dominant congenital benign spinal muscular atrophy"," congenital benign spinal muscular atrophy with contracture"," congenital benign spinal muscular atrophy with contractures"," congenital nonprogressive spinal muscular atrophy"," neuronopathy, distal hereditary motor, type viii"," neuropathy, distal hereditary motor, type viii"," spinal muscular atrophy, congenital benign, with contractures"]}