{"Name":"Amyotrophic lateral sclerosis type 10","DiseaseID__c":"GARD:0015540","id":15540,"encodedName":"amyotrophic-lateral-sclerosis-type-10","IsDeleted":false,"Disease_Name_Full__c":"Amyotrophic lateral sclerosis type 10","Xref_IDs__c":"1208412003; C168752; C2677565; C567429; DOID:0060201; MEDGEN:383137; MONDO:0012790; OMIM:612069","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":1,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0012790","Disease_Description__c":"Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the TARDBP gene.","GARD_Name__c":"Amyotrophic lateral sclerosis type 10","GARD_Synonym__c":"als10; als10 - amyotrophic lateral sclerosis type 10; amyotrophic lateral sclerosis 10; amyotrophic lateral sclerosis 10 with or without frontotemporal dementia; amyotrophic lateral sclerosis 10 with or without frontotemporal dementia and with tdp43 inclusions; amyotrophic lateral sclerosis 10 without frontotemporal dementia and with tdp43 inclusions; amyotrophic lateral sclerosis 10, with or without frontotemporal dementia; amyotrophic lateral sclerosis 10, with or without ftd; amyotrophic lateral sclerosis caused by mutation in tardbp; frontotemporal lobar degeneration, tardbp-related; tardbp amyotrophic lateral sclerosis; tardbp-related amyotrophic lateral sclerosis; tardbp-related frontotemporal lobar degeneration with tdp43 inclusions","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","Curated_Disease_Description__c":"Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia (ALS10) is a rare genetic neurological disease. It represents a spectrum of observable characteristics (phenotypes). Mutations in the TARDBP gene cause these characteristics. It can cause pure (without other neurologic findings) ALS. It can cause pure frontotemporal dementia (FTD). Or, it can cause a combination of ALS and FTD. It can also cause another more rare neurologic phenotype. Common symptoms include difficulties with speech and swallowing. These symptoms are known as dysarthria (difficulty with speech) and dysphagia (trouble swallowing). Less common symptoms include parkinsonism, cognitive decline, and behavioral differences. Life expectancy for people with TARDBP-ALS averages three to five years. For people with TARDBP-FTD life expectancy averages one to 16 years. ALS10 is inherited in autosomal dominant pattern. This means a single copy of the mutated gene is sufficient to cause the disorder.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:612069","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012790","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia (ALS10) is a rare genetic neurological disease. It represents a spectrum of observable characteristics (phenotypes). Mutations in the TARDBP gene cause these characteristics. It can cause pure (without other neurologic findings) ALS. It can cause pure frontotemporal dementia (FTD). Or, it can cause a combination of ALS and FTD. It can also cause another more rare neurologic phenotype. Common symptoms include difficulties with speech and swallowing. These symptoms are known as dysarthria (difficulty with speech) and dysphagia (trouble swallowing). Less common symptoms include parkinsonism, cognitive decline, and behavioral differences. Life expectancy for people with TARDBP-ALS averages three to five years. For people with TARDBP-FTD life expectancy averages one to 16 years. ALS10 is inherited in autosomal dominant pattern. This means a single copy of the mutated gene is sufficient to cause the disorder.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","GARD_Synonym__c":"als10; als10 - amyotrophic lateral sclerosis type 10; amyotrophic lateral sclerosis 10; amyotrophic lateral sclerosis 10 with or without frontotemporal dementia; amyotrophic lateral sclerosis 10 with or without frontotemporal dementia and with tdp43 inclusions; amyotrophic lateral sclerosis 10 without frontotemporal dementia and with tdp43 inclusions; amyotrophic lateral sclerosis 10, with or without frontotemporal dementia; amyotrophic lateral sclerosis 10, with or without ftd; amyotrophic lateral sclerosis caused by mutation in tardbp; frontotemporal lobar degeneration, tardbp-related; tardbp amyotrophic lateral sclerosis; tardbp-related amyotrophic lateral sclerosis; tardbp-related frontotemporal lobar degeneration with tdp43 inclusions","Name":"Amyotrophic lateral sclerosis type 10","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Les Turner ALS Foundation","Website__c":"https://lesturnerals.org/"},{"Account_Name__c":"ALS Association","Website__c":"https://www.als.org/"},{"Account_Name__c":"Motor Neurone Disease Association","Website__c":"https://www.mndassociation.org/"},{"Account_Name__c":"ALS Canada","Website__c":"https://www.als.ca"},{"Account_Name__c":"Muscular Dystrophy Association","Website__c":"https://www.mda.org"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1450","Xref__c":"NBK1450"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK5942","Source__c":"Gene Review","Xref__c":"NBK5942"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060201","Source__c":"MONDO:0012790","Xref__c":"DOID:0060201"},{"URL__c":"https://www.omim.org/entry/612069","Source__c":"C2677565; MONDO:0012790","Xref__c":"OMIM:612069"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2677565","Source__c":"C2677565","Xref__c":"C2677565"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567429","Source__c":"MONDO:0012790","Xref__c":"C567429"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=383137","Source__c":"C2677565","Xref__c":"MEDGEN:383137"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C168752","Source__c":"C2677565","Xref__c":"C168752"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1208412003","Source__c":"C2677565","Xref__c":"1208412003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012790","Source__c":"GARD:0015540","Xref__c":"MONDO:0012790"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TARDBP","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tardbp","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:612069","Feature__r":{"HPO_Description__c":"Apathy is a quantitative reduction of interest, motivation and the initiation and persistence of goal-directed behavior, where often the accompanying emotions, thoughts, and social interactions are also diminished. The individual is typically non-reactive to provocations, positive or negative, and appears to not care. Distinguished from lethargy which involves lack of physical or mental energy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000741","HPO_Synonym__c":"Lack of feeling, emotion, interest; Lack of feeling, emotion, interest, motivation, initiation; State of indifference","HPO_Name__c":"Apathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612069","Feature__r":{"HPO_Description__c":"Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001260","HPO_Synonym__c":"Difficulty articulating speech; Dysarthric speech","HPO_Name__c":"Dysarthria","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612069","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":"OMIM:612069","Feature__r":{"HPO_Description__c":"Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000733","HPO_Synonym__c":"Abnormal repetitive mannerism; Repetitive behavior; Repetitive movements; Repetitive, stereotypic behavior; Stereotyped; Stereotyped behavior; Stereotyped behaviors; Stereotypical motor behavior; Stereotypical motor behaviors; Stimming","HPO_Name__c":"Motor stereotypy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612069","Feature__r":{"HPO_Description__c":"A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001257","HPO_Synonym__c":"Involuntary muscle stiffness, contraction, or spasm; Muscle spasticity; Muscular spasticity","HPO_Name__c":"Spasticity","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612069","Feature__r":{"HPO_Description__c":"Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000712","HPO_Name__c":"Emotional lability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612069","Feature__r":{"HPO_Description__c":"The repetitive production of the same response to different commands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030223","HPO_Synonym__c":"Perseveration; Perseverative behavior","HPO_Name__c":"Perseverative thought","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612069","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"}},{"Provided_By__c":"OMIM:612069","Feature__r":{"HPO_Description__c":"Reduced strength of muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001324","HPO_Synonym__c":"Muscle weakness; Muscular weakness","HPO_Name__c":"Muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612069","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002747","HPO_Synonym__c":"Decreased lung function due to weak breathing muscles; Decreased respiratory function due to muscle weakness; Respiratory distress due to muscle weakness; Respiratory failure due to muscle weakness; Respiratory muscle weakness","HPO_Name__c":"Respiratory insufficiency due to muscle weakness","Feature_System__c":"Musculoskeletal System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612069","Feature__r":{"HPO_Description__c":"Reduced ability to control, or a failure to resist a temptation, urge, or impulse. Examples include disregard for social conventions, general impulsivity, and poor risk assessment.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000734","HPO_Synonym__c":"Impulse control disorders; Lack of self-control","HPO_Name__c":"Disinhibition","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612069","Feature__r":{"HPO_Description__c":"A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight. The hallmark feature of frontotemporal dementia is the presentation with focal syndromes such as progressive language dysfunction, or aphasia, or behavioral changes characteristic of frontal lobe disorders.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002145","HPO_Name__c":"Frontotemporal dementia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612069","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"}},{"Provided_By__c":"OMIM:612069","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007354","HPO_Name__c":"Amyotrophic lateral sclerosis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Neuromuscular medicine"]},"synonyms":["als10"," als10 - amyotrophic lateral sclerosis type 10"," amyotrophic lateral sclerosis 10"," amyotrophic lateral sclerosis 10 with or without frontotemporal dementia"," amyotrophic lateral sclerosis 10 with or without frontotemporal dementia and with tdp43 inclusions"," amyotrophic lateral sclerosis 10 without frontotemporal dementia and with tdp43 inclusions"," amyotrophic lateral sclerosis 10, with or without frontotemporal dementia"," amyotrophic lateral sclerosis 10, with or without ftd"," amyotrophic lateral sclerosis caused by mutation in tardbp"," frontotemporal lobar degeneration, tardbp-related"," tardbp amyotrophic lateral sclerosis"," tardbp-related amyotrophic lateral sclerosis"," tardbp-related frontotemporal lobar degeneration with tdp43 inclusions"]}