{"Name":"X-linked distal spinal muscular atrophy type 3","DiseaseID__c":"GARD:0016957","id":16957,"encodedName":"x-linked-distal-spinal-muscular-atrophy-type-3","IsDeleted":false,"Disease_Name_Full__c":"X-linked distal spinal muscular atrophy type 3","Xref_IDs__c":"766764008; C1845359; C564506; DOID:0111196; MEDGEN:335168; MONDO:0010338; OMIM:300489; ORPHA:139557","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":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0010338","Disease_Description__c":"X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males.","GARD_Name__c":"X-linked distal spinal muscular atrophy type 3","GARD_Synonym__c":"atp7a (atpase copper transporting alpha) related distal motor neuropathy; atp7a spinal muscular atrophy; atp7a-related distal motor neuropathy; dsmax; neuronopathy, distal hereditary motor, x-linked; neuropathy, distal hereditary motor, x-linked; smax3; spinal muscular atrophy caused by mutation in atp7a; spinal muscular atrophy, distal, x-linked 3, x-linked recessive; spinal muscular atrophy, distal, x-linked recessive; spinal muscular atrophy, distal, x-linked type 3; x-linked dhmn type 3; x-linked dhmn3; x-linked distal hereditary motor neuropathy type 3; x-linked dsma type 3; x-linked dsma3","Curated_Disease_Description_Source__c":"MONDO:0010338","Curated_Disease_Description__c":"X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males.","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:139557","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010338","ORPHANET_ID__c":"ORPHA:139557","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Atrofia muscular espinal distal ligada al cromosoma x tipo 3","Spanish_Description_Source__c":"ORPHA:139557","Spanish_Description__c":"La atrofia muscular distal tipo 3 distal ligada al cromosoma X, es una neuropatía motora hereditaria distal poco frecuente caracterizada por atrofia y debilidad de progresión lenta de los músculos de manos y pies, con reflejos tendinosos profundos normales o ausencia de reflejos aquileos y déficit sensitivo mínimo o nulo. En ocasiones, se presenta con leve debilidad proximal en las piernas y pies y malformación de las manos en varones.","Spanish_Disease_Name__c":"atrofia muscular espinal distal ligada al cromosoma x tipo 3","Spanish_GARD_Synonym__c":"dhmn3 ligada al cromosoma x; dsma3 ligada al cromosoma x; dsmax; neuropatía motora distal asociada a atp7a; neuropatía motora distal hereditaria ligada al cromosoma x tipo 3; smax3","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":"X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males.","Curated_Disease_Description_Source__c":"MONDO:0010338","GARD_Synonym__c":"atp7a (atpase copper transporting alpha) related distal motor neuropathy; atp7a spinal muscular atrophy; atp7a-related distal motor neuropathy; dsmax; neuronopathy, distal hereditary motor, x-linked; neuropathy, distal hereditary motor, x-linked; smax3; spinal muscular atrophy caused by mutation in atp7a; spinal muscular atrophy, distal, x-linked 3, x-linked recessive; spinal muscular atrophy, distal, x-linked recessive; spinal muscular atrophy, distal, x-linked type 3; x-linked dhmn type 3; x-linked dhmn3; x-linked distal hereditary motor neuropathy type 3; x-linked dsma type 3; x-linked dsma3","Name":"X-linked distal spinal muscular atrophy type 3","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Muscular Dystrophy Canada","Website__c":"https://muscle.ca/"}],"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":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Peripheral Neuropathy","Tag_Category__c":"Account","curated_tag_name":"Peripheral neuropathy"},{"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:139557"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:139557"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:139557"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:139557"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1413","Source__c":"Gene Review","Xref__c":"NBK1413"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=766764008","Source__c":"C1845359; MONDO:0010338","Xref__c":"766764008"},{"URL__c":"https://www.orpha.net/en/disease/detail/139557","Source__c":"C1845359; MONDO:0010338; ORPHA:139557","Xref__c":"ORPHA:139557"},{"URL__c":"https://www.omim.org/entry/300489","Source__c":"C1845359; MONDO:0010338; ORPHA:139557","Xref__c":"OMIM:300489"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564506","Source__c":"MONDO:0010338","Xref__c":"C564506"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=335168","Source__c":"C1845359","Xref__c":"MEDGEN:335168"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111196","Source__c":"MONDO:0010338","Xref__c":"DOID:0111196"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1845359","Source__c":"C1845359","Xref__c":"C1845359"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010338","Source__c":"GARD:0016957","Xref__c":"MONDO:0010338"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ATP7A","GHR_URL__c":"https://medlineplus.gov/genetics/gene/atp7a","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:300489","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:300489","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:300489","Feature__r":{"HPO_Description__c":"An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001761","HPO_Synonym__c":"Cavus foot; High-arched foot","HPO_Name__c":"Pes cavus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300489","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal reduction in sensation in the distal portions of the extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002936","HPO_Synonym__c":"Decreased distal sensation; Decreased sensation in extremities; Distal sensation loss; Distal sensory impairment in lower limbs; Distal sensory impairment of the lower extremities; Distal sensory loss; Distal sensory loss, upper and lower limbs; Loss of distal sensation","HPO_Name__c":"Distal sensory impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300489","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:300489","Feature__r":{"HPO_Description__c":"Reduced strength of the musculature of the distal extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002460","HPO_Synonym__c":"Distal limb muscle weakness; Distal limb weakness; Distal muscular weakness; Distal paresis; Muscle weakness, distal; Muscle weakness, distal limbs, due to neuronopathy; Weakness of distal muscles; Weakness of outermost muscles","HPO_Name__c":"Distal muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300489","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:300489","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002317","HPO_Synonym__c":"Gait instability; Unsteady walk","HPO_Name__c":"Unsteady gait","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300489","Feature__r":{"HPO_Description__c":"A structural abnormality of the peripheral nervous system, which is composed of the nerves that lead to or branch off from the central nervous system. This includes the cranial nerves (olfactory and optic nerves are technically part of the central nervous system).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000759","HPO_Synonym__c":"Abnormal peripheral nervous system structure","HPO_Name__c":"Abnormal peripheral nervous system morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Peripheral Neuropathy"]},"synonyms":["atp7a (atpase copper transporting alpha) related distal motor neuropathy"," atp7a spinal muscular atrophy"," atp7a-related distal motor neuropathy"," dsmax"," neuronopathy, distal hereditary motor, x-linked"," neuropathy, distal hereditary motor, x-linked"," smax3"," spinal muscular atrophy caused by mutation in atp7a"," spinal muscular atrophy, distal, x-linked 3, x-linked recessive"," spinal muscular atrophy, distal, x-linked recessive"," spinal muscular atrophy, distal, x-linked type 3"," x-linked dhmn type 3"," x-linked dhmn3"," x-linked distal hereditary motor neuropathy type 3"," x-linked dsma type 3"," x-linked dsma3"]}