{"Name":"Neurogenic scapuloperoneal syndrome, Kaeser type","DiseaseID__c":"GARD:0010312","id":10312,"encodedName":"neurogenic-scapuloperoneal-syndrome-kaeser-type","IsDeleted":false,"Disease_Name_Full__c":"Neurogenic scapuloperoneal syndrome, Kaeser type","Xref_IDs__c":"C1867005; C566695; DOID:0111551; MEDGEN:356670; MONDO:0008407; OMIM:181400; ORPHA:85146","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","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":1,"Description_Source__c":"ORPHA:85146","Disease_Description__c":"A rare, genetic, neuromuscular disease characterized by adult-onset muscle weakness and atrophy in a scapuloperoneal distribution, mild involvement of the facial muscles, dysphagia, and gynecomastia. Elevated serum CK levels and mixed myopathic and neurogenic abnormalities are associated clinical findings.","GARD_Name__c":"Neurogenic scapuloperoneal syndrome, Kaeser type","GARD_Synonym__c":"kaeser syndrome; neurogenic scapuloperoneal syndrome kaeser type; scpnk; stark kaeser syndrome; stark-kaeser syndrome","Curated_Disease_Description_Source__c":"ORPHA:85146","Curated_Disease_Description__c":"A rare, genetic, neuromuscular disease characterized by adult-onset muscle weakness and atrophy in a scapuloperoneal distribution, mild involvement of the facial muscles, dysphagia, and gynecomastia. Elevated serum CK levels and mixed myopathic and neurogenic abnormalities are associated clinical findings.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:85146","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008407","ORPHANET_ID__c":"ORPHA:85146","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome escapuloperoneal neurogénico, tipo kaeser","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome escapuloperoneal neurogénico, tipo kaeser","Spanish_GARD_Synonym__c":"síndrome de kaeser; síndrome de stark-kaeser","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, neuromuscular disease characterized by adult-onset muscle weakness and atrophy in a scapuloperoneal distribution, mild involvement of the facial muscles, dysphagia, and gynecomastia. Elevated serum CK levels and mixed myopathic and neurogenic abnormalities are associated clinical findings.","Curated_Disease_Description_Source__c":"ORPHA:85146","GARD_Synonym__c":"kaeser syndrome; neurogenic scapuloperoneal syndrome kaeser type; scpnk; stark kaeser syndrome; stark-kaeser syndrome","Name":"Neurogenic scapuloperoneal syndrome, Kaeser type","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Muscular Dystrophy Association","Website__c":"https://www.mda.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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:85146"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1867005"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010312","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=356670","Source__c":"C1867005","Xref__c":"MEDGEN:356670"},{"URL__c":"https://www.orpha.net/en/disease/detail/85146","Source__c":"C1867005; MONDO:0008407; ORPHA:85146","Xref__c":"ORPHA:85146"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566695","Source__c":"MONDO:0008407","Xref__c":"C566695"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111551","Source__c":"MONDO:0008407","Xref__c":"DOID:0111551"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1867005","Source__c":"C1867005","Xref__c":"C1867005"},{"URL__c":"https://www.omim.org/entry/181400","Source__c":"C1867005; MONDO:0008407; ORPHA:85146","Xref__c":"OMIM:181400"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008407","Source__c":"GARD:0010312","Xref__c":"MONDO:0008407"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1208615009","Source__c":"C1867005","Xref__c":"1208615009"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"DES","GHR_URL__c":"https://medlineplus.gov/genetics/gene/des","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:181400","Feature__r":{"HPO_Description__c":"Atrophy of the peroneous muscles, peroneus longus (also known as Fibularis longus), Peroneus brevis (also known as fibularis brevis, and Peroneus tertius (also known as fibularis tertius).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009049","HPO_Synonym__c":"Peroneal atrophy","HPO_Name__c":"Peroneal muscle atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:181400","Feature__r":{"HPO_Description__c":"Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001762","HPO_Synonym__c":"Club feet; Club foot; Clubbing of feet; Clubfeet; Clubfoot; Equinovarus; Foot, talipes equinovarus; Pes equinovarus; Pes equinus","HPO_Name__c":"Talipes equinovarus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:181400","HPO_Frequency__c":"Very frequent (80-99%)","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:181400","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009027","HPO_Synonym__c":"Foot drop; Foot extensor weakness; Footdrop; Inability to heel walk; Inability to walk on heels","HPO_Name__c":"Foot dorsiflexor weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:181400","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal development of large mammary glands in males resulting in breast enlargement.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000771","HPO_Synonym__c":"Enlarged male breast; Gynaecomastia","HPO_Name__c":"Gynecomastia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:181400","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Streaming or smearing of the Z band, which is then no longer confined to a narrow zone which bisects the I band. The Z disk may extend across the I band or the entire sarcomere in a zigzag manner. Focal thickening, smudging, and blurring of the Z band takes place concurrently. Myofibrillar disorganization is a frequent but not invariable accompanying change.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0020203","HPO_Name__c":"Z-band streaming","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:181400","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003805","HPO_Synonym__c":"Rimmed vacuoles on biopsy","HPO_Name__c":"Rimmed vacuoles","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:181400","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003704","HPO_Synonym__c":"Neurogenic scapuloperoneal syndrome","HPO_Name__c":"Scapuloperoneal weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:181400","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030319","HPO_Synonym__c":"Decreased facial muscle strength; Decreased strength of facial muscles; Face weakness; Facial muscle weakness; Facial weakness; Myasthenia of facial muscles; Reduced facial muscle strength; Weakness of face; Weakness of facial musculature","HPO_Name__c":"Weakness of facial musculature","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:181400","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Difficulty in swallowing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002015","HPO_Synonym__c":"Difficulty swallowing; Poor swallowing; Swallowing difficulties; Swallowing difficulty","HPO_Name__c":"Dysphagia","Feature_System__c":"Nervous System; Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine"]},"synonyms":["kaeser syndrome"," neurogenic scapuloperoneal syndrome kaeser type"," scpnk"," stark kaeser syndrome"," stark-kaeser syndrome"]}