{"Name":"Spinal muscular atrophy with lower extremity predominance","DiseaseID__c":"GARD:0017559","id":17559,"encodedName":"spinal-muscular-atrophy-with-lower-extremity-predominance","IsDeleted":false,"Disease_Name_Full__c":"Spinal muscular atrophy with lower extremity predominance","Xref_IDs__c":"772129007; C1834690; DOID:0070348; MEDGEN:322470; MONDO:0018190; OMIMPS:158600; ORPHA:363447","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":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":5,"Description_Source__c":"ORPHA:363447","Disease_Description__c":"A rare genetic neuromuscular disease characterized by early onset muscular weakness with predominant proximal lower limb involvement. The disorder is static or only mildly progressive. The severity of manifestations ranges from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features.","GARD_Name__c":"Spinal muscular atrophy with lower extremity predominance","GARD_Synonym__c":"autosomal dominant childhood-onset proximal spinal muscular atrophy; lower extremity-predominant autosomal dominant proximal spinal muscular atrophy; smaled; smaled - spinal muscular atrophy, lower extremity, dominant","Curated_Disease_Description_Source__c":"ORPHA:363447","Curated_Disease_Description__c":"Spinal muscular atrophy with lower extremity predominance (SMA-LED) is characterized by muscle weakness and wasting (atrophy) in the lower limbs, most severely affecting the thigh muscles (quadriceps). (In SMA-LED, the 'D' stands for dominant, which refers to the inheritance pattern of this condition.) The loss of nerve cells that control muscle movement (motor neurons) leads to atrophy of the muscles in the lower limbs. Affected individuals often have a waddling or unsteady walk and walk on the balls of their feet. They may have difficulty rising from a seated position and climbing stairs. Some people with SMA-LED also have weakness in upper limb muscles. Joint deformities (contractures) in the hips, knees, feet, and ankles can occur in SMA-LED, and in severe cases are present from birth and can impair walking. Some individuals with this disorder have rigidity of joints (arthrogryposis) in their shoulders, elbows, and hands. In most people with SMA-LED, the muscle problems are apparent in infancy or early childhood; however, about one-quarter of affected individuals do not develop muscle weakness until adulthood. The muscle weakness and related health problems typically do not worsen over time.","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:363447","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018190","ORPHANET_ID__c":"ORPHA:363447","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Atrofia muscular espinal proximal autosómica dominante de inicio en la infancia","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"atrofia muscular espinal proximal autosómica dominante de inicio en la infancia","Spanish_GARD_Synonym__c":"atrofia muscular espinal proximal autosómica dominante con predominancia de las extremidades inferiores; smaled","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":"Spinal muscular atrophy with lower extremity predominance (SMA-LED) is characterized by muscle weakness and wasting (atrophy) in the lower limbs, most severely affecting the thigh muscles (quadriceps). (In SMA-LED, the 'D' stands for dominant, which refers to the inheritance pattern of this condition.) The loss of nerve cells that control muscle movement (motor neurons) leads to atrophy of the muscles in the lower limbs. Affected individuals often have a waddling or unsteady walk and walk on the balls of their feet. They may have difficulty rising from a seated position and climbing stairs. Some people with SMA-LED also have weakness in upper limb muscles. Joint deformities (contractures) in the hips, knees, feet, and ankles can occur in SMA-LED, and in severe cases are present from birth and can impair walking. Some individuals with this disorder have rigidity of joints (arthrogryposis) in their shoulders, elbows, and hands. In most people with SMA-LED, the muscle problems are apparent in infancy or early childhood; however, about one-quarter of affected individuals do not develop muscle weakness until adulthood. The muscle weakness and related health problems typically do not worsen over time.","Curated_Disease_Description_Source__c":"ORPHA:363447","GARD_Synonym__c":"autosomal dominant childhood-onset proximal spinal muscular atrophy; lower extremity-predominant autosomal dominant proximal spinal muscular atrophy; smaled; smaled - spinal muscular atrophy, lower extremity, dominant","Name":"Spinal muscular atrophy with lower extremity predominance","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"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:363447"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:363447"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:363447"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:363447"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:363447"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=322470","Source__c":"C1834690","Xref__c":"MEDGEN:322470"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1834690","Source__c":"C1834690","Xref__c":"C1834690"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS158600","Source__c":"MONDO:0018190","Xref__c":"OMIMPS:158600"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070348","Source__c":"MONDO:0018190","Xref__c":"DOID:0070348"},{"URL__c":"https://www.orpha.net/en/disease/detail/363447","Source__c":"C1834690; MONDO:0018190; ORPHA:363447","Xref__c":"ORPHA:363447"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018190","Source__c":"GARD:0017559","Xref__c":"MONDO:0018190"},{"URL__c":"https://medlineplus.gov/genetics/condition/spinal-muscular-atrophy-with-lower-extremity-predominance","Source__c":"GARD:0017559","Xref__c":"https://medlineplus.gov/genetics/condition/spinal-muscular-atrophy-with-lower-extremity-predominance"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=772129007","Source__c":"C1834690","Xref__c":"772129007"}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"]},"synonyms":["autosomal dominant childhood-onset proximal spinal muscular atrophy"," lower extremity-predominant autosomal dominant proximal spinal muscular atrophy"," smaled"," smaled - spinal muscular atrophy, lower extremity, dominant"]}