{"Name":"Frontotemporal dementia and/or amyotrophic lateral sclerosis 1","DiseaseID__c":"GARD:0018396","id":18396,"encodedName":"frontotemporal-dementia-andor-amyotrophic-lateral-sclerosis-1","IsDeleted":false,"Disease_Name_Full__c":"Frontotemporal dementia and/or amyotrophic lateral sclerosis 1","Xref_IDs__c":"C168756; C5779877; DOID:0060213; MEDGEN:1830423; MONDO:0007105; OMIM:105550","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:0007105","Disease_Description__c":"Any frontotemporal dementia with motor neuron disease in which the cause of the disease is a mutation in the C9orf72 gene.","GARD_Name__c":"Frontotemporal dementia and/or amyotrophic lateral sclerosis 1","GARD_Synonym__c":"alsftd; amyotrophic lateral sclerosis and/or frontotemporal dementia; c9orf72 frontotemporal dementia with motor neuron disease; frontotemporal dementia and/or amyotrophic lateral sclerosis type 1; frontotemporal dementia and/or motor neuron disease; frontotemporal dementia with motor neuron disease 1; frontotemporal dementia with motor neuron disease caused by mutation in c9orf72; ftdals1; ftdmnd","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","Curated_Disease_Description__c":"Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (FTDALS1) is a rare neurodegenerative disease. It is caused by changes in the C9ORF72 gene. It can be characterized by frontotemporal dementia (FTD). It can be characterized by amyotrophic lateral sclerosis (ALS). Or, it can be characterized by a combination of the two. Atypical presentations may also occur. The symptoms of FTD may include progressive changes in personality and behavior. This can include changes in judgement. People with FTDALS1 may have trouble managing thoughts, emotions, and actions. The condition can also cause difficulty communicating. This specific type of FTD also includes neuropsychiatric symptoms like hallucinations and delusions. The symptoms of ALS are mainly related to motor neurons. These include abnormal muscle tone, involuntary rapid muscle twitches, muscle cramps, and trouble walking. Problems with swallowing, speech, and early cognitive impairments can also occur. Symptoms appear during adulthood and may vary significantly between and within families. This causes an unpredictable pattern and age of onset of symptoms. Those with ALS typically present earlier and have more severe symptoms. FTDALS1 is caused by specific changes called hexanucleotide repeat expansions. These expansions occur in the C9ORF72 gene. Hexanucleotide repeats are repeats of 6 specific nucleotides, the basic building blocks of DNA and RNA. When they expand, they increase in size from one generation to the next. Most people have between 2 and 19 repeats. People with FTDALS1 have 250 to over 2,000. Symptoms may occur in people with as few as 20 to 22 repeats. This condition is inherited in an autosomal dominant pattern. This means most people with this condition inherited the repeat expansion from one of their parents.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:105550","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007105","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":"Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (FTDALS1) is a rare neurodegenerative disease. It is caused by changes in the C9ORF72 gene. It can be characterized by frontotemporal dementia (FTD). It can be characterized by amyotrophic lateral sclerosis (ALS). Or, it can be characterized by a combination of the two. Atypical presentations may also occur. The symptoms of FTD may include progressive changes in personality and behavior. This can include changes in judgement. People with FTDALS1 may have trouble managing thoughts, emotions, and actions. The condition can also cause difficulty communicating. This specific type of FTD also includes neuropsychiatric symptoms like hallucinations and delusions. The symptoms of ALS are mainly related to motor neurons. These include abnormal muscle tone, involuntary rapid muscle twitches, muscle cramps, and trouble walking. Problems with swallowing, speech, and early cognitive impairments can also occur. Symptoms appear during adulthood and may vary significantly between and within families. This causes an unpredictable pattern and age of onset of symptoms. Those with ALS typically present earlier and have more severe symptoms. FTDALS1 is caused by specific changes called hexanucleotide repeat expansions. These expansions occur in the C9ORF72 gene. Hexanucleotide repeats are repeats of 6 specific nucleotides, the basic building blocks of DNA and RNA. When they expand, they increase in size from one generation to the next. Most people have between 2 and 19 repeats. People with FTDALS1 have 250 to over 2,000. Symptoms may occur in people with as few as 20 to 22 repeats. This condition is inherited in an autosomal dominant pattern. This means most people with this condition inherited the repeat expansion from one of their parents.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","GARD_Synonym__c":"alsftd; amyotrophic lateral sclerosis and/or frontotemporal dementia; c9orf72 frontotemporal dementia with motor neuron disease; frontotemporal dementia and/or amyotrophic lateral sclerosis type 1; frontotemporal dementia and/or motor neuron disease; frontotemporal dementia with motor neuron disease 1; frontotemporal dementia with motor neuron disease caused by mutation in c9orf72; ftdals1; ftdmnd","Name":"Frontotemporal dementia and/or amyotrophic lateral sclerosis 1","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"ALS Association","Website__c":"https://www.als.org/"},{"Account_Name__c":"ALS Canada","Website__c":"https://www.als.ca"},{"Account_Name__c":"The Association for Frontotemporal Degeneration","Website__c":"https://www.theaftd.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/NBK268647","Source__c":"Gene Review","Xref__c":"NBK268647"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1830423","Source__c":"C5779877","Xref__c":"MEDGEN:1830423"},{"URL__c":"https://www.omim.org/entry/105550","Source__c":"C5779877; MONDO:0007105","Xref__c":"OMIM:105550"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060213","Source__c":"MONDO:0007105","Xref__c":"DOID:0060213"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5779877","Source__c":"C5779877","Xref__c":"C5779877"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C168756","Source__c":"C5779877; MONDO:0007105","Xref__c":"C168756"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007105","Source__c":"GARD:0018396","Xref__c":"MONDO:0007105"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"C9orf72","GHR_URL__c":"https://medlineplus.gov/genetics/gene/c9orf72","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:105550","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"}},{"Provided_By__c":"OMIM:105550","Feature__r":{"HPO_Description__c":"Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000716","HPO_Synonym__c":"Depression; Depressive episode; Depressivity","HPO_Name__c":"Depression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:105550","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:105550","Feature__r":{"HPO_Description__c":"A delusion is a fixed false belief held despite evidence to the contrary. The term delusion broadly encompasses all false judgments that possess the following external characteristics to a significant, albeit unspecified, extent: (1) they are held with an exceptional level of conviction, accompanied by an unparalleled subjective certainty; (2) there is an inability to consider alternative experiences or compelling counter-arguments; (3) the content of the belief is impossible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000746","HPO_Synonym__c":"Delusions","HPO_Name__c":"Delusion","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:105550","Feature__r":{"HPO_Description__c":"A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000726","HPO_Synonym__c":"Dementia; Dementia, progressive; Progressive dementia","HPO_Name__c":"Dementia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:105550","Feature__r":{"HPO_Description__c":"Perceptions in a conscious and awake state that, in the absence of external stimuli, have qualities of real perception. These perceptions are vivid, substantial, and located in external objective space.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000738","HPO_Synonym__c":"Hallucination; Hallucinations; Sensory hallucination","HPO_Name__c":"Hallucinations","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:105550","Feature__r":{"HPO_Description__c":"Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002059","HPO_Synonym__c":"Degeneration of cerebrum","HPO_Name__c":"Cerebral atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:105550","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:105550","Feature__r":{"HPO_Description__c":"Weakness or partial paralysis in the lower limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002385","HPO_Synonym__c":"Partial paralysis of legs","HPO_Name__c":"Paraparesis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:105550","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:105550","Feature__r":{"HPO_Description__c":"Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001300","HPO_Name__c":"Parkinsonism","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:105550","Feature__r":{"HPO_Description__c":"A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002186","HPO_Name__c":"Apraxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:105550","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007308","HPO_Name__c":"Extrapyramidal dyskinesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:105550","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A supranuclear gaze palsy is an inability to look in a particular direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000605","HPO_Synonym__c":"Supranuclear gaze paralysis","HPO_Name__c":"Supranuclear gaze palsy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:105550","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:105550","Feature__r":{"HPO_Description__c":"Gliosis is the focal proliferation of glial cells in the central nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002171","HPO_Synonym__c":"Cerebral gliosis; Excess astrocytes in brain","HPO_Name__c":"Gliosis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:105550","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:105550","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002529","HPO_Synonym__c":"Loss of brain cells; Neuronal loss; Neuronal loss in CNS","HPO_Name__c":"Neuronal loss in central nervous system","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:105550","Feature__r":{"HPO_Description__c":"Any structural anomaly of the lower motor neuron.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002366","HPO_Synonym__c":"Lower motor neuron disease; Lower motor neuron manifestations; Lower motor neuron signs","HPO_Name__c":"Abnormal lower motor neuron morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:105550","Feature__r":{"HPO_Description__c":"Weakness of all four limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002273","HPO_Synonym__c":"Quadriparesis","HPO_Name__c":"Tetraparesis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:105550","Feature__r":{"HPO_Description__c":"A specific learning disability involving mathematics and arithmetic.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002442","HPO_Synonym__c":"Acalculia","HPO_Name__c":"Dyscalculia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Neuromuscular medicine"]},"synonyms":["alsftd"," amyotrophic lateral sclerosis and/or frontotemporal dementia"," c9orf72 frontotemporal dementia with motor neuron disease"," frontotemporal dementia and/or amyotrophic lateral sclerosis type 1"," frontotemporal dementia and/or motor neuron disease"," frontotemporal dementia with motor neuron disease 1"," frontotemporal dementia with motor neuron disease caused by mutation in c9orf72"," ftdals1"," ftdmnd"]}