{"Name":"Kugelberg-Welander disease","DiseaseID__c":"GARD:0000198","id":198,"encodedName":"kugelberg-welander-disease","IsDeleted":false,"Disease_Name_Full__c":"Kugelberg-Welander disease","Xref_IDs__c":"54280009; C0152109; C118847; DOID:12376; MEDGEN:101816; MONDO:0009672; OMIM:253400; ORPHA:83419","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":0,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0009672","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 progressive proximal muscle weakness (legs greater than arms) between 18 months and adulthood. Motor development is heterogeneous but walking is typically acquired.","GARD_Name__c":"Kugelberg-Welander disease","GARD_Synonym__c":"familial spinal muscular atrophy; juvenile spinal muscular atrophy; kugelberg welander syndrome; kugelberg-welander syndrome; muscular atrophy, juvenile; proximal spinal muscular atrophy type 3; sma iii; sma type 3; sma type iii; sma-iii; sma3; spinal muscular atrophy iii; spinal muscular atrophy type 3; spinal muscular atrophy type iii; spinal muscular atrophy-3; spinal muscular atrophy, familial; spinal muscular atrophy, mild childhood and adolescent form; spinal muscular atrophy, type iii; spinal muscular atrophy, type iii, modifier of; type iii spinal muscular atrophy","Curated_Disease_Description_Source__c":"MONDO:0009672","Curated_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 progressive proximal muscle weakness (legs greater than arms) between 18 months and adulthood. Motor development is heterogeneous but walking is typically acquired.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:83419","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009672","ORPHANET_ID__c":"ORPHA:83419","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Atrofia muscular espinal proximal tipo 3","Spanish_Description_Source__c":"ORPHA:83419","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 la aparición de debilidad muscular proximal progresiva (que afecta mayormente a las extremidades inferiores) entre los 18 meses y la edad adulta. El desarrollo motor es heterogéneo, aunque suele producirse una adquisición de la marcha.","Spanish_Disease_Name__c":"atrofia muscular espinal proximal tipo 3","Spanish_GARD_Synonym__c":"ame tipo 3; ame tipo iii; ame-iii; ame3; atrofia muscular espinal juvenil; enfermedad de kugelberg-welander; sma tipo 3; sma tipo iii; sma-iii; sma3","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":"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 progressive proximal muscle weakness (legs greater than arms) between 18 months and adulthood. Motor development is heterogeneous but walking is typically acquired.","Curated_Disease_Description_Source__c":"MONDO:0009672","GARD_Synonym__c":"familial spinal muscular atrophy; juvenile spinal muscular atrophy; kugelberg welander syndrome; kugelberg-welander syndrome; muscular atrophy, juvenile; proximal spinal muscular atrophy type 3; sma iii; sma type 3; sma type iii; sma-iii; sma3; spinal muscular atrophy iii; spinal muscular atrophy type 3; spinal muscular atrophy type iii; spinal muscular atrophy-3; spinal muscular atrophy, familial; spinal muscular atrophy, mild childhood and adolescent form; spinal muscular atrophy, type iii; spinal muscular atrophy, type iii, modifier of; type iii spinal muscular atrophy","Name":"Kugelberg-Welander 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":"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":"Adolescent","Provided_By__c":"ORPHA:83419"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:83419"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:83419"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:83419"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0152109"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000198","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1352","Source__c":"Gene Review","Xref__c":"NBK1352"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=101816","Source__c":"C0152109","Xref__c":"MEDGEN:101816"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=54280009","Source__c":"C0152109; MONDO:0009672","Xref__c":"54280009"},{"URL__c":"https://www.omim.org/entry/253400","Source__c":"C0152109; MONDO:0009672; ORPHA:83419","Xref__c":"OMIM:253400"},{"URL__c":"https://www.orpha.net/en/disease/detail/83419","Source__c":"C0152109; MONDO:0009672; ORPHA:83419","Xref__c":"ORPHA:83419"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C118847","Source__c":"C0152109; MONDO:0009672","Xref__c":"C118847"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A12376","Source__c":"MONDO:0009672","Xref__c":"DOID:12376"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0152109","Source__c":"C0152109","Xref__c":"C0152109"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009672","Source__c":"GARD:0000198","Xref__c":"MONDO:0009672"}],"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:253400","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Weakness of the muscles of the legs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007340","HPO_Synonym__c":"Leg weakness; Lower extremity weakness; Lower limb muscle weakness; Lower limb weakness; Muscle weakness in lower limbs","HPO_Name__c":"Lower limb muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:253400","HPO_Frequency__c":"Frequent (30-79%)","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":"OMIM:253400","Feature__r":{"HPO_Description__c":"Reduction of neurologic reflexes such as the knee-jerk reaction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001265","HPO_Synonym__c":"Decreased reflex response; Decreased reflexes","HPO_Name__c":"Hyporeflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:253400","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003749","HPO_Synonym__c":"Hip girdle muscle weakness; Hip girdle weakness; Hip-girdle muscle weakness; Pelvic girdle weakness","HPO_Name__c":"Pelvic girdle muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:253400","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003438","HPO_Synonym__c":"Absent ankle reflexes","HPO_Name__c":"Absent Achilles reflex","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:253400","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"}},{"Provided_By__c":"OMIM:253400","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:253400","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of the knee jerk reflex, which can normally be elicited by tapping the patellar tendon with a reflex hammer just below the patella.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006844","HPO_Synonym__c":"Absent knee jerk reflex","HPO_Name__c":"Absent patellar reflexes","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:253400","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Atrophy of the muscles of the pelvic girdle (also known as hip girdle), i.e., the gluteal muscles, the lateral rotators, the adductors, the psoas major and the iliacus muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008946","HPO_Synonym__c":"Hip girdle amyotrophy","HPO_Name__c":"Pelvic girdle amyotrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:253400","Feature__r":{"HPO_Description__c":"Fasciculations affecting the musculature of the arms and legs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007289","HPO_Synonym__c":"Limb fasciculation","HPO_Name__c":"Limb fasciculations","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:253400","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A lack of strength of the proximal muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003701","HPO_Synonym__c":"Muscle weakness, proximal; Proximal limb muscle weakness; Proximal limb weakness; Weakness in muscles of upper arms and upper legs","HPO_Name__c":"Proximal muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:253400","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:253400","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Amyotrophy affecting the muscles of the shoulder girdle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003724","HPO_Synonym__c":"Shoulder girdle atrophy; Shoulder girdle muscle wasting; Shoulder-girdle muscle atrophy","HPO_Name__c":"Shoulder girdle muscle atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:253400","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008956","HPO_Synonym__c":"Amyotrophy involving the thigh; Amyotrophy of the thigh musculature; Proximal lower limb muscle atrophy; Thigh muscle atrophy; Wasting of thigh muscle","HPO_Name__c":"Proximal lower limb amyotrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:253400","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003547","HPO_Synonym__c":"Muscle weakness, shoulder-girdle; Shoulder girdle weakness; Shoulder weakness; Weak shoulder muscles","HPO_Name__c":"Shoulder girdle muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:253400","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:253400","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Evidence of chronic denervation on electromyography.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003444","HPO_Name__c":"EMG: chronic denervation signs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Procedure_EMG"}},{"Provided_By__c":"OMIM:253400","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Sudden and involuntary contractions of one or more muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003394","HPO_Synonym__c":"Muscle cramps; Muscle spasms","HPO_Name__c":"Muscle spasm","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:253400","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inability to walk in a person who previous had the ability to walk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002505","HPO_Synonym__c":"Loss of ability to walk","HPO_Name__c":"Loss of ambulation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"]},"synonyms":["familial spinal muscular atrophy"," juvenile spinal muscular atrophy"," kugelberg welander syndrome"," kugelberg-welander syndrome"," muscular atrophy, juvenile"," proximal spinal muscular atrophy type 3"," sma iii"," sma type 3"," sma type iii"," sma-iii"," sma3"," spinal muscular atrophy iii"," spinal muscular atrophy type 3"," spinal muscular atrophy type iii"," spinal muscular atrophy-3"," spinal muscular atrophy, familial"," spinal muscular atrophy, mild childhood and adolescent form"," spinal muscular atrophy, type iii"," spinal muscular atrophy, type iii, modifier of"," type iii spinal muscular atrophy"],"spanishId":12203,"spanishName":"atrofia-muscular-espinal-tipo-3"}