{"Name":"Spinal muscular atrophy, type II","DiseaseID__c":"GARD:0004945","id":4945,"encodedName":"spinal-muscular-atrophy-type-ii","IsDeleted":false,"Disease_Name_Full__c":"Spinal muscular atrophy, type II","Xref_IDs__c":"128212001; C0393538; C156310; C536879; DOID:0050530; MEDGEN:95975; MONDO:0009673; OMIM:253550; ORPHA:83418","USA_Estimate__c":"50,000","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":"80,000 to 800,000","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":1,"Description_Source__c":"MONDO:0009673","Disease_Description__c":"A rare, genetic proximal spinal muscular atrophy characterized by degeneration of alpha motor neurons in the anterior horns of the spinal cord and lower brain stem manifesting with onset between 6 to 18 months of age with progressive, proximal muscle weakness, mild to moderate hypotonia and finger polymyoclonour tremor, with areflexia. Motor milestones are classically limited to independent sitting or standing.","GARD_Name__c":"Spinal muscular atrophy, type II","GARD_Synonym__c":"chronic infantile spinal muscular atrophy; chronic spinal muscular atrophy; intermediate spinal muscular atrophy; late infantile spinal muscular atrophy; muscular atrophy, spinal, infantile chronic form; muscular atrophy, spinal, intermediate type; proximal spinal muscular atrophy type 2; sma ii; sma type 2; sma type ii; sma-ii; sma2; spinal muscular atrophy type ii; spinal muscular atrophy-2","Curated_Disease_Description_Source__c":"GARD:0004945","Curated_Disease_Description__c":"Spinal muscular atrophy type 2 (SMA2) is a genetic neuromuscular disorder that affects the nerve cells that control voluntary muscles (motor neurons). Babies with SMA2 can sit without support, however, they cannot stand or walk independently. Feeding and breathing problems may also develop. SMA2 is caused by changes (pathogenic variants also called genetic changes) in the SMN1 gene and is inherited in an autosomal recessive manner. Diagnosis of SMA2 is suspected by symptoms and confirmed by genetic testing.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:83418","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009673","ORPHANET_ID__c":"ORPHA:83418","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Atrofia muscular espinal proximal tipo 2","Spanish_Description_Source__c":"ORPHA:83418","Spanish_Description__c":"Es una atrofia muscular espinal proximal, poco frecuente y de base genética, caracterizada por la degeneración de las motoneuronas alfa del asta anterior de la médula espinal y del tronco encefálico inferior. Se manifiesta con un inicio entre los 6 y los 18 meses de edad, con debilidad muscular proximal progresiva, hipotonía de leve a moderada y temblor polimioclónico de los dedos de la mano con arreflexia. Los hitos del desarrollo motor se limitan clásicamente a la sedestación o a la bipedestación independientes.","Spanish_Disease_Name__c":"atrofia muscular espinal proximal tipo 2","Spanish_GARD_Synonym__c":"ame tipo 2; ame tipo ii; ame-ii; ame2; atrofia muscular espinal intermedia; sma tipo 2; sma tipo ii; sma-ii; sma2","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 type 2 (SMA2) is a genetic neuromuscular disorder that affects the nerve cells that control voluntary muscles (motor neurons). Babies with SMA2 can sit without support, however, they cannot stand or walk independently. Feeding and breathing problems may also develop. SMA2 is caused by changes (pathogenic variants also called genetic changes) in the SMN1 gene and is inherited in an autosomal recessive manner. Diagnosis of SMA2 is suspected by symptoms and confirmed by genetic testing.","Curated_Disease_Description_Source__c":"GARD:0004945","GARD_Synonym__c":"chronic infantile spinal muscular atrophy; chronic spinal muscular atrophy; intermediate spinal muscular atrophy; late infantile spinal muscular atrophy; muscular atrophy, spinal, infantile chronic form; muscular atrophy, spinal, intermediate type; proximal spinal muscular atrophy type 2; sma ii; sma type 2; sma type ii; sma-ii; sma2; spinal muscular atrophy type ii; spinal muscular atrophy-2","Name":"Spinal muscular atrophy, type II","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Isaac Foundation","Website__c":"https://www.theisaacfoundation.com/"},{"Account_Name__c":"Muscular Dystrophy Canada","Website__c":"https://muscle.ca/"},{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"Fundación Atrofía Muscular Espinal México","Website__c":"https://www.curame.org.mx"},{"Account_Name__c":"Cure SMA","Website__c":"https://www.curesma.org/"},{"Account_Name__c":"Spinal Muscular Atrophy Foundation","Website__c":"https://smafoundation.org/"},{"Account_Name__c":"Muscular Dystrophy Association","Website__c":"https://www.mda.org"},{"Account_Name__c":"SMA Europe","Website__c":"https://www.sma-europe.eu/"},{"Account_Name__c":"Spinal Muscular Atrophy Malaysia (SMAM)","Website__c":"https://www.smamalaysia.org.my/copy-of-home"},{"Account_Name__c":"Spinal Muscular Atrophy Association of Australia Inc.","Website__c":"https://smaaustralia.org.au/"},{"Account_Name__c":"Cure SMA Canada","Website__c":"https://curesma.ca/"},{"Account_Name__c":"Gwendolyn Strong Foundation","Website__c":"https://nevergiveup.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":"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:83418"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004945","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1352","Source__c":"Gene Review","Xref__c":"NBK1352"},{"URL__c":"https://www.omim.org/entry/253550","Source__c":"C0393538; MONDO:0009673; ORPHA:83418","Xref__c":"OMIM:253550"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050530","Source__c":"MONDO:0009673","Xref__c":"DOID:0050530"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536879","Source__c":"MONDO:0009673","Xref__c":"C536879"},{"URL__c":"https://www.orpha.net/en/disease/detail/83418","Source__c":"C0393538; MONDO:0009673; ORPHA:83418","Xref__c":"ORPHA:83418"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0393538","Source__c":"C0393538","Xref__c":"C0393538"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=128212001","Source__c":"C0393538; MONDO:0009673","Xref__c":"128212001"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=95975","Source__c":"C0393538","Xref__c":"MEDGEN:95975"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009673","Source__c":"GARD:0004945","Xref__c":"MONDO:0009673"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C156310","Source__c":"C0393538","Xref__c":"C156310"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SMN1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/smn1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:253550","Feature__r":{"HPO_Description__c":"Abnormal results of investigations using electromyography (EMG).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003457","HPO_Synonym__c":"Abnormal electromyography finding; Abnormal EMG; Electromyogram abnormal; EMG abnormalities","HPO_Name__c":"EMG abnormality","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Procedure_EMG"}},{"Provided_By__c":"OMIM:253550","Feature__r":{"HPO_Description__c":"An unintentional, oscillating to-and-fro muscle movement affecting the hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002378","HPO_Synonym__c":"Hand tremor; Tremor of hand; Tremor of hands; tremors in hands","HPO_Name__c":"Hand tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:253550","Feature__r":{"HPO_Description__c":"The presence of skeletal muscular atrophy (which is also known as amyotrophy).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003202","HPO_Synonym__c":"Amyotrophy; Amyotrophy involving the extremities; Muscle atrophy; Muscle atrophy, neurogenic; Muscle degeneration; Muscle hypotrophy; Muscle wasting; Muscular atrophy; Neurogenic muscle atrophy; Neurogenic muscle atrophy, especially in the lower limbs; Neurogenic muscular atrophy","HPO_Name__c":"Skeletal muscle atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:253550","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002398","HPO_Synonym__c":"Anterior horn cell loss; Degeneration of alpha-motor neurons in anterior horn cells of the spinal cord; Degeneration of spinal cord anterior horn cells; Loss of spinal cord anterior horn cells; Progressive loss of anterior horn cells; Spinal cord anterior horn cell degeneration","HPO_Name__c":"Degeneration of anterior horn cells","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:253550","Feature__r":{"HPO_Description__c":"An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002205","HPO_Synonym__c":"Frequent respiratory infections; Multiple respiratory infections; Recurrent respiratory infections; respiratory infections, recurrent; Susceptibility to respiratory infections","HPO_Name__c":"Recurrent respiratory infections","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:253550","Feature__r":{"HPO_Description__c":"Reduced strength of muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001324","HPO_Synonym__c":"Muscle weakness; Muscular weakness","HPO_Name__c":"Muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:253550","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:253550","Feature__r":{"HPO_Description__c":"Fasciculations or fibrillation affecting the tongue muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001308","HPO_Synonym__c":"Lingual fasciculations; Lingual fibrillations; Lingual twitching; Tongue fasciculation; Tongue fasciculations/fibrillations; Tongue twitching; Twitching of the tongue","HPO_Name__c":"Tongue fasciculations","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"]},"synonyms":["chronic infantile spinal muscular atrophy"," chronic spinal muscular atrophy"," intermediate spinal muscular atrophy"," late infantile spinal muscular atrophy"," muscular atrophy, spinal, infantile chronic form"," muscular atrophy, spinal, intermediate type"," proximal spinal muscular atrophy type 2"," sma ii"," sma type 2"," sma type ii"," sma-ii"," sma2"," spinal muscular atrophy type ii"," spinal muscular atrophy-2"],"spanishId":12202,"spanishName":"---"}