{"Name":"Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures","DiseaseID__c":"GARD:0013519","id":13519,"encodedName":"autosomal-dominant-childhood-onset-proximal-spinal-muscular-atrophy-without-contractures","IsDeleted":false,"Disease_Name_Full__c":"Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures","Xref_IDs__c":"C191765; C563560; C5780022; DOID:0070351; MEDGEN:1830501; MONDO:0008026; OMIM:158600; ORPHA:209341","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":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":5,"Description_Source__c":"ORPHA:209341","Disease_Description__c":null,"GARD_Name__c":"Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures","GARD_Synonym__c":"dync1h1-related autosomal dominant childhood-onset proximal spinal muscular atrophy; dync1h1-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy; kugelberg-welander syndrome, autosomal dominant; lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures; smaled1; spinal muscular atrophy, childhood, proximal, autosomal dominant; spinal muscular atrophy, juvenile, proximal, autosomal dominant; spinal muscular atrophy, lower extremity-predominant 1, ad","Curated_Disease_Description_Source__c":"OMIM:158600","Curated_Disease_Description__c":"DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy is a hereditary neuromuscular disorder characterized by degeneration of spinal cord motor neurons resulting in muscle weakness. This disease shows autosomal dominant inheritance with muscle weakness predominantly affecting the proximal lower extremities.","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:209341","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008026","ORPHANET_ID__c":"ORPHA:209341","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Atrofia muscular espinal proximal asociada a dync1h1 autosómica dominante de inicio en la infancia","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"atrofia muscular espinal proximal asociada a dync1h1 autosómica dominante de inicio en la infancia","Spanish_GARD_Synonym__c":"atrofia muscular espinal proximal asociada a dync1h1 con predominio en extremidades inferiores autosómica dominante; smaled1","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":"DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy is a hereditary neuromuscular disorder characterized by degeneration of spinal cord motor neurons resulting in muscle weakness. This disease shows autosomal dominant inheritance with muscle weakness predominantly affecting the proximal lower extremities.","Curated_Disease_Description_Source__c":"OMIM:158600","GARD_Synonym__c":"dync1h1-related autosomal dominant childhood-onset proximal spinal muscular atrophy; dync1h1-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy; kugelberg-welander syndrome, autosomal dominant; lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures; smaled1; spinal muscular atrophy, childhood, proximal, autosomal dominant; spinal muscular atrophy, juvenile, proximal, autosomal dominant; spinal muscular atrophy, lower extremity-predominant 1, ad","Name":"Autosomal dominant childhood-onset proximal spinal muscular atrophy without cont","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Muscular Dystrophy Canada","Website__c":"https://muscle.ca/"},{"Account_Name__c":"DYNC1H1 Association","Website__c":"https://www.dync1h1.org"},{"Account_Name__c":"Simons Searchlight","Website__c":"https://www.simonssearchlight.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":"Childhood","Provided_By__c":"ORPHA:209341"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:209341"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:209341"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:209341"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:209341"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0013519","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/158600","Source__c":"C5780022; MONDO:0008026; ORPHA:209341","Xref__c":"OMIM:158600"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1830501","Source__c":"C5780022","Xref__c":"MEDGEN:1830501"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563560","Source__c":"MONDO:0008026","Xref__c":"C563560"},{"URL__c":"https://www.orpha.net/en/disease/detail/209341","Source__c":"C5780022; MONDO:0008026; ORPHA:209341","Xref__c":"ORPHA:209341"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070351","Source__c":"MONDO:0008026","Xref__c":"DOID:0070351"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5780022","Source__c":"C5780022","Xref__c":"C5780022"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008026","Source__c":"GARD:0013519","Xref__c":"MONDO:0008026"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK601997","Source__c":"Gene Review","Xref__c":"NBK601997"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C191765","Source__c":"C5780022","Xref__c":"C191765"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"DYNC1H1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/dync1h1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:158600","Feature__r":{"HPO_Description__c":"An abnormality of the skeleton of foot.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001760","HPO_Synonym__c":"Abnormal feet structure; Abnormality of the feet; Abnormality of the foot; Foot deformities; Foot deformity","HPO_Name__c":"Abnormal foot morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:158600","Feature__r":{"HPO_Description__c":"Decreased intensity of the patellar reflex (also known as the knee jerk reflex).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011808","HPO_Synonym__c":"Decreased knee jerk reflex; Decreased patellar reflexes","HPO_Name__c":"Decreased patellar reflex","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:158600","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:158600","Feature__r":{"HPO_Description__c":"An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003474","HPO_Synonym__c":"Sensory impairment","HPO_Name__c":"Somatic sensory dysfunction","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:158600","Feature__r":{"HPO_Description__c":"Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002515","HPO_Synonym__c":"Waddling gait; Waddling walk","HPO_Name__c":"Waddling gait","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:158600","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:158600","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:158600","Feature__r":{"HPO_Description__c":"A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031936","HPO_Synonym__c":"Delayed walking","HPO_Name__c":"Delayed ability to walk","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:158600","Feature__r":{"HPO_Description__c":"An abnormal predominance of type II muscle fibers (in general, this feature can only be observed on muscle biopsy).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010602","HPO_Synonym__c":"Type II muscle fiber predominance","HPO_Name__c":"Type 2 muscle fiber predominance","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:158600","Feature__r":{"HPO_Description__c":"Reduced ability to run.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009046","HPO_Synonym__c":"Difficulty running","HPO_Name__c":"Difficulty running","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:158600","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:158600","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"]},"synonyms":["dync1h1-related autosomal dominant childhood-onset proximal spinal muscular atrophy"," dync1h1-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy"," kugelberg-welander syndrome, autosomal dominant"," lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures"," smaled1"," spinal muscular atrophy, childhood, proximal, autosomal dominant"," spinal muscular atrophy, juvenile, proximal, autosomal dominant"," spinal muscular atrophy, lower extremity-predominant 1, ad"]}