{"Name":"Amyotrophic lateral sclerosis type 4","DiseaseID__c":"GARD:0010502","id":10502,"encodedName":"amyotrophic-lateral-sclerosis-type-4","IsDeleted":false,"Disease_Name_Full__c":"Amyotrophic lateral sclerosis type 4","Xref_IDs__c":"784341001; C1865409; C566550; DOID:0060196; MEDGEN:355983; MONDO:0011223; OMIM:602433; ORPHA:357043","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":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0011223","Disease_Description__c":"Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SETX gene.","GARD_Name__c":"Amyotrophic lateral sclerosis type 4","GARD_Synonym__c":"als 4; als4; als4 - amyotrophic lateral sclerosis type 4; amyotrophic lateral sclerosis 4; amyotrophic lateral sclerosis 4, juvenile; amyotrophic lateral sclerosis caused by mutation in setx; dhmn (distal hereditary motor neuropathy) with upper motor neuron signs; dhmn with upper motor neuron signs; distal hereditary motor neuropathy with pyramidal features; distal hereditary motor neuropathy with upper motor neuron signs; neuronopathy, distal hereditary motor, with pyramidal features; setx amyotrophic lateral sclerosis; setx-related amyotrophic lateral sclerosis","Curated_Disease_Description_Source__c":"ORPHA:357043","Curated_Disease_Description__c":"A rare, genetic motor neuron disease characterized by late childhood- or adolescent-onset of slowly progressive, severe, distal limb muscle weakness and wasting, in association with pyramidal signs, normal sensation, and absence of bulbar involvement, leading to degeneration of motor neurons in the brain and spinal cord.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child and as a Teenager","SourceID__c":"ORPHA:357043","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011223","ORPHANET_ID__c":"ORPHA:357043","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Esclerosis lateral amiotrófica tipo 4","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"esclerosis lateral amiotrófica tipo 4","Spanish_GARD_Synonym__c":"als4; dhmn con signos de la motoneurona superior; neuropatía motora distal hereditaria con signos de la motoneurona superior","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 motor neuron disease characterized by late childhood- or adolescent-onset of slowly progressive, severe, distal limb muscle weakness and wasting, in association with pyramidal signs, normal sensation, and absence of bulbar involvement, leading to degeneration of motor neurons in the brain and spinal cord.","Curated_Disease_Description_Source__c":"ORPHA:357043","GARD_Synonym__c":"als 4; als4; als4 - amyotrophic lateral sclerosis type 4; amyotrophic lateral sclerosis 4; amyotrophic lateral sclerosis 4, juvenile; amyotrophic lateral sclerosis caused by mutation in setx; dhmn (distal hereditary motor neuropathy) with upper motor neuron signs; dhmn with upper motor neuron signs; distal hereditary motor neuropathy with pyramidal features; distal hereditary motor neuropathy with upper motor neuron signs; neuronopathy, distal hereditary motor, with pyramidal features; setx amyotrophic lateral sclerosis; setx-related amyotrophic lateral sclerosis","Name":"Amyotrophic lateral sclerosis type 4","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"ALS Association","Website__c":"https://www.als.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:357043"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:357043"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1865409"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1450","Source__c":"Gene Review","Xref__c":"NBK1450"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566550","Source__c":"MONDO:0011223","Xref__c":"C566550"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=355983","Source__c":"C1865409","Xref__c":"MEDGEN:355983"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1865409","Source__c":"C1865409","Xref__c":"C1865409"},{"URL__c":"https://www.orpha.net/en/disease/detail/357043","Source__c":"C1865409; MONDO:0011223; ORPHA:357043","Xref__c":"ORPHA:357043"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060196","Source__c":"MONDO:0011223","Xref__c":"DOID:0060196"},{"URL__c":"https://www.omim.org/entry/602433","Source__c":"C1865409; MONDO:0011223; ORPHA:357043","Xref__c":"OMIM:602433"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011223","Source__c":"GARD:0010502","Xref__c":"MONDO:0011223"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=784341001","Source__c":"C1865409","Xref__c":"784341001"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SETX","GHR_URL__c":"https://medlineplus.gov/genetics/gene/setx","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:357043","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Functional neurological abnormalities related to dysfunction of the pyramidal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007256","HPO_Synonym__c":"Corticospinal signs; Pyramidal signs; Pyramidal tract signs","HPO_Name__c":"Abnormal pyramidal sign","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:357043","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:357043","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:357043","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Complete loss of the ability to move the lower limbs accompanied by spasticity of the lower limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001258","HPO_Synonym__c":"Spastic paraplegia, lower limb","HPO_Name__c":"Spastic paraplegia","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:357043","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:357043","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The term gait disturbance can refer to any disruption of the ability to walk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001288","HPO_Synonym__c":"Abnormal gait; Abnormal walk; Difficulty in walking; Gait abnormalities; Gait difficulties; Gait disturbances; Impaired gait; Walking disability","HPO_Name__c":"Gait disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:357043","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003487","HPO_Synonym__c":"Extensor plantar reflexes; Extensor plantar response; Extensor plantar responses; Positive Babinski sign","HPO_Name__c":"Babinski sign","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:357043","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of skeletal muscular atrophy (which is also known as amyotrophy).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003202","HPO_Synonym__c":"Amyotrophy; Amyotrophy involving the extremities; Muscle atrophy; Muscle atrophy, neurogenic; Muscle degeneration; Muscle hypotrophy; Muscle wasting; Muscular atrophy; Neurogenic muscle atrophy; Neurogenic muscle atrophy, especially in the lower limbs; Neurogenic muscular atrophy","HPO_Name__c":"Skeletal muscle atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"]},"synonyms":["als 4"," als4"," als4 - amyotrophic lateral sclerosis type 4"," amyotrophic lateral sclerosis 4"," amyotrophic lateral sclerosis 4, juvenile"," amyotrophic lateral sclerosis caused by mutation in setx"," dhmn (distal hereditary motor neuropathy) with upper motor neuron signs"," dhmn with upper motor neuron signs"," distal hereditary motor neuropathy with pyramidal features"," distal hereditary motor neuropathy with upper motor neuron signs"," neuronopathy, distal hereditary motor, with pyramidal features"," setx amyotrophic lateral sclerosis"," setx-related amyotrophic lateral sclerosis"]}