{"Name":"Werdnig-Hoffmann disease","DiseaseID__c":"GARD:0007883","id":7883,"encodedName":"werdnig-hoffmann-disease","IsDeleted":false,"Disease_Name_Full__c":"Werdnig-Hoffmann disease","Xref_IDs__c":"423022330; 64383006; C5848259; C98670; DOID:13137; MEDGEN:1845578; MONDO:0009669; OMIM:253300; ORPHA:83330","USA_Estimate__c":"5,000","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":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009669","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 of severe and progressive muscle weakness in the first 6 months of life and presenting with severe, generalized hypotonia and weakness,. Dysphagia and respiratory impairment may also be present at presentation or appear at a later stage. Classically, before the advent of recent therapies, type 1 patients never achieved sitting without support.","GARD_Name__c":"Werdnig-Hoffmann disease","GARD_Synonym__c":"hereditary motor neuropathy proximal type i; hmn (hereditary motor neuropathy) proximal type i; infantile spinal muscular atrophy; infantile-onset spinal muscular atrophy; muscular atrophy, infantile; progressive muscular atrophy of infancy; proximal spinal muscular atrophy type 1; severe infantile spinal muscular atrophy; sma i; sma type 1; sma type i; sma-i; sma, infantile acute form; sma1; smni; spinal muscular atrophy type i; spinal muscular atrophy-1; spinal muscular atrophy, type 1; spinal muscular atrophy, type i; survival motor neuron spinal muscular atrophy; werdnig hoffmann disease; werdnig-hoffman disease; whd - werdnig-hoffmann disease","Curated_Disease_Description_Source__c":"GARD:0007883","Curated_Disease_Description__c":"Spinal muscular atrophy 1 (SMA1), also known as Werdnig Hoffmann disease, is a genetic neuromuscular disorder that affects the nerve cells that control voluntary muscles (motor neurons). Without treatment, symptoms of SMA1 become apparent before 6 months of age and include worsening muscle weakness and poor muscle tone (hypotonia) due to loss of the lower motor neurons in the spinal cord and brain stem. Feeding and breathing problems may also present. SMA1 is caused by changes (pathogenic variants also called genetic changes) in the SMN1 gene and is typically inherited in an autosomal recessive manner. Diagnosis of SMA1 is suspected by symptoms and confirmed by genetic testing. SMA has been added to the list of recommended newborn screening tests in the United States, so that it can be detected prior to symptoms developing.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:83330","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009669","ORPHANET_ID__c":"ORPHA:83330","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Atrofia muscular espinal proximal tipo 1","Spanish_Description_Source__c":"ORPHA:83330","Spanish_Description__c":"Es una atrofia muscular espinal proximal, de origen genético y poco frecuente, caracterizada por la degeneración de las motoneuronas alfa en las astas anteriores de la médula espinal y en la región más inferior del tronco encefálico. Se manifiesta con el inicio de una debilidad muscular grave y progresiva en los primeros 6 meses de vida y se presenta con hipotonía y debilidad grave y generalizada. La disfagia y la afectación respiratoria también pueden estar presentes desde el inicio o aparecer en una fase posterior. Clásicamente, antes del advenimiento de las nuevas terapias, los pacientes de tipo 1 nunca lograban la sedestación independiente.","Spanish_Disease_Name__c":"atrofia muscular espinal proximal tipo 1","Spanish_GARD_Synonym__c":"ame tipo 1; ame tipo i; ame-i; ame1; atrofia muscular espinal de inicio en la infancia; atrofia muscular espinal infantil; enfermedad de werdnig-hoffmann; sma tipo 1; sma tipo i; sma-i; sma1","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 1 (SMA1), also known as Werdnig Hoffmann disease, is a genetic neuromuscular disorder that affects the nerve cells that control voluntary muscles (motor neurons). Without treatment, symptoms of SMA1 become apparent before 6 months of age and include worsening muscle weakness and poor muscle tone (hypotonia) due to loss of the lower motor neurons in the spinal cord and brain stem. Feeding and breathing problems may also present. SMA1 is caused by changes (pathogenic variants also called genetic changes) in the SMN1 gene and is typically inherited in an autosomal recessive manner. Diagnosis of SMA1 is suspected by symptoms and confirmed by genetic testing. SMA has been added to the list of recommended newborn screening tests in the United States, so that it can be detected prior to symptoms developing.","Curated_Disease_Description_Source__c":"GARD:0007883","GARD_Synonym__c":"hereditary motor neuropathy proximal type i; hmn (hereditary motor neuropathy) proximal type i; infantile spinal muscular atrophy; infantile-onset spinal muscular atrophy; muscular atrophy, infantile; progressive muscular atrophy of infancy; proximal spinal muscular atrophy type 1; severe infantile spinal muscular atrophy; sma i; sma type 1; sma type i; sma-i; sma, infantile acute form; sma1; smni; spinal muscular atrophy type i; spinal muscular atrophy-1; spinal muscular atrophy, type 1; spinal muscular atrophy, type i; survival motor neuron spinal muscular atrophy; werdnig hoffmann disease; werdnig-hoffman disease; whd - werdnig-hoffmann disease","Name":"Werdnig-Hoffmann disease","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"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":"Familias de la Atrofia Muscular Espinal Argentina","Website__c":"https://www.fameargentina.com.ar/"},{"Account_Name__c":"Fundación Atrofia Muscular Espinal","Website__c":"https://www.fundame.net/"},{"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:83330"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:83330"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0007883","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1352","Source__c":"Gene Review","Xref__c":"NBK1352"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A13137","Source__c":"MONDO:0009669","Xref__c":"DOID:13137"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C98670","Source__c":"C5848259; MONDO:0009669","Xref__c":"C98670"},{"URL__c":"https://www.orpha.net/en/disease/detail/83330","Source__c":"C5848259; MONDO:0009669; ORPHA:83330","Xref__c":"ORPHA:83330"},{"URL__c":"https://www.omim.org/entry/253300","Source__c":"C5848259; MONDO:0009669; ORPHA:83330","Xref__c":"OMIM:253300"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5848259","Source__c":"C5848259","Xref__c":"C5848259"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1845578","Source__c":"C5848259","Xref__c":"MEDGEN:1845578"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=64383006","Source__c":"C5848259; MONDO:0009669","Xref__c":"64383006"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009669","Source__c":"GARD:0007883","Xref__c":"MONDO:0009669"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022330","Xref__c":"423022330"}],"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:253300","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:253300","Feature__r":{"HPO_Description__c":"A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002878","HPO_Synonym__c":"Respiratory failure","HPO_Name__c":"Respiratory failure","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:253300","Feature__r":{"HPO_Description__c":"Generalized muscular hypotonia (abnormally low muscle tone).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001290","HPO_Synonym__c":"Generalized decreased muscle tone; Generalized muscular hypotonia; Hypotonia, generalized","HPO_Name__c":"Generalized hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:253300","Feature__r":{"HPO_Description__c":"Difficulty to maintain correct position of the head while standing or sitting. Infant head lag is observed when the head seems to flop around or lags posteriorly behind the trunk. Several articles have maintained that head lag should be absent by age 3 to 4 months.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002421","HPO_Synonym__c":"Delay in head control; Delay in head righting; Infant head lag; Poor head control","HPO_Name__c":"Poor head control","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:253300","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:253300","Feature__r":{"HPO_Description__c":"A lack of strength of the proximal muscles of the legs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008994","HPO_Synonym__c":"Muscle weakness, proximal, lower limbs; Proximal muscle weakness in lower limbs","HPO_Name__c":"Proximal lower limb muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:253300","Feature__r":{"HPO_Description__c":"Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001631","HPO_Synonym__c":"An opening in the wall separating the top two chambers of the heart; ASD; Atria septal defect; Atrial septum defect; Atrioseptal defect; Defect in the atrial septum; Hole in heart wall separating two upper heart chambers","HPO_Name__c":"Atrial septal defect","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:253300","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002093","HPO_Synonym__c":"Respiratory impairment","HPO_Name__c":"Respiratory insufficiency","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:253300","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal reduction in quantity or strength of fetal movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001558","HPO_Synonym__c":"Decreased fetal activity; Decreased fetal movements; Decreased movement in utero; Dminished fetal movement; Fetal hypokinesia; Less than 10 fetal movements in 12 hours; Reduced fetal movement; Reduced fetal movements","HPO_Name__c":"Decreased fetal movement","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:253300","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:253300","Feature__r":{"HPO_Description__c":"A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001629","HPO_Synonym__c":"Hole in heart wall separating two lower heart chambers; Ventricular septal defects; Ventriculoseptal defect; VSD","HPO_Name__c":"Ventricular septal defect","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:253300","Feature__r":{"HPO_Description__c":"Absence of neurologic reflexes such as the knee-jerk reaction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001284","HPO_Synonym__c":"Absent deep tendon reflexes; Absent tendon reflexes; Deep tendon reflexes absent; Loss of deep tendon reflexes; Lost deep tendon reflexes","HPO_Name__c":"Areflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:253300","Feature__r":{"HPO_Description__c":"Amyotrophy (muscular atrophy) affecting the proximal musculature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007126","HPO_Synonym__c":"Muscle atrophy, proximal; Proximal muscle atrophy; Proximal muscle wasting; Symmetric proximal muscular atrophy; Symmetrical, proximal limb muscle atrophy; Wasting of muscles near the body","HPO_Name__c":"Proximal amyotrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:253300","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":["hereditary motor neuropathy proximal type i"," hmn (hereditary motor neuropathy) proximal type i"," infantile spinal muscular atrophy"," infantile-onset spinal muscular atrophy"," muscular atrophy, infantile"," progressive muscular atrophy of infancy"," proximal spinal muscular atrophy type 1"," severe infantile spinal muscular atrophy"," sma i"," sma type 1"," sma type i"," sma-i"," sma, infantile acute form"," sma1"," smni"," spinal muscular atrophy type i"," spinal muscular atrophy-1"," spinal muscular atrophy, type 1"," spinal muscular atrophy, type i"," survival motor neuron spinal muscular atrophy"," werdnig hoffmann disease"," werdnig-hoffman disease"," whd - werdnig-hoffmann disease"],"spanishId":11865,"spanishName":"atrofia-muscular-espinal-tipo-1"}