{"Name":"Behavioral variant of frontotemporal dementia","DiseaseID__c":"GARD:0007392","id":7392,"encodedName":"behavioral-variant-of-frontotemporal-dementia","IsDeleted":false,"Disease_Name_Full__c":"Behavioral variant of frontotemporal dementia","Xref_IDs__c":"716994006; C4011788; MEDGEN:860225; MONDO:0017160; ORPHA:275864","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0017160","Disease_Description__c":"Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD; see this term), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy.","GARD_Name__c":"Behavioral variant of frontotemporal dementia","GARD_Synonym__c":"bv-ftd","Curated_Disease_Description_Source__c":"GARD:0007392","Curated_Disease_Description__c":"Pick’s disease is a neurological condition characterized by a slowly progressive deterioration of behavior, personality, or language. People with Pick's disease have abnormal substances (called Pick bodies) inside nerve cells in the damaged areas of the brain. Pick bodies contain an abnormal form of a protein called tau. This protein is found in all nerve cells, but people with Pick's disease have an abnormal amount or type of this protein. Symptoms often present sometime in the 50s, though it can occur as early as age 20 or as late as age 80. The course of the disease varies from person to person. The underlying cause of Pick's disease is unknown. In some cases, the disease runs in families.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:275864","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017160","ORPHANET_ID__c":"ORPHA:275864","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Variante conductual de la demencia frontotemporal","Spanish_Description_Source__c":"ORPHA:275864","Spanish_Description__c":"Es una forma de demencia frontotemporal (DFT) caracterizada por un deterioro conductual progresivo y una disminución de la función ejecutiva con predominio de atrofia del lóbulo frontal.","Spanish_Disease_Name__c":"variante conductual de la demencia frontotemporal","Spanish_GARD_Synonym__c":null,"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":"Pick’s disease is a neurological condition characterized by a slowly progressive deterioration of behavior, personality, or language. People with Pick's disease have abnormal substances (called Pick bodies) inside nerve cells in the damaged areas of the brain. Pick bodies contain an abnormal form of a protein called tau. This protein is found in all nerve cells, but people with Pick's disease have an abnormal amount or type of this protein. Symptoms often present sometime in the 50s, though it can occur as early as age 20 or as late as age 80. The course of the disease varies from person to person. The underlying cause of Pick's disease is unknown. In some cases, the disease runs in families.","Curated_Disease_Description_Source__c":"GARD:0007392","GARD_Synonym__c":"bv-ftd","Name":"Behavioral variant of frontotemporal dementia","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Cure MAPT FTD","Website__c":"https://www.curemaptftd.org/"},{"Account_Name__c":"The Association for Frontotemporal Degeneration","Website__c":"https://www.theaftd.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":"Psychiatry","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:275864"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0236642"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0007392","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=716994006","Source__c":"C4011788; MONDO:0017160","Xref__c":"716994006"},{"URL__c":"https://www.orpha.net/en/disease/detail/275864","Source__c":"C4011788; MONDO:0017160; ORPHA:275864","Xref__c":"ORPHA:275864"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4011788","Source__c":"C4011788","Xref__c":"C4011788"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=860225","Source__c":"C4011788","Xref__c":"MEDGEN:860225"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017160","Source__c":"GARD:0007392","Xref__c":"MONDO:0017160"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PSEN1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/psen1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SQSTM1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/sqstm1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:275864","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Proliferation of astrocytes in the area of a lesion of the central nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002446","HPO_Name__c":"Astrocytosis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275864","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002381","HPO_Synonym__c":"Difficulty finding words; Losing words; Loss of words","HPO_Name__c":"Aphasia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275864","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold (NF) measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. An NF measurement greater than 5 mm at 14 to 17+6 weeks of gestation, or 6 mm at 18 to 28 weeks has been associated with a markedly increased risk for Down syndrome.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000474","HPO_Synonym__c":"Excess nuchal skin; Increased nuchal fold; Increased nuchal fold thickness; Thick nuchal fold; Thickened nuchal skin; Thickened skin folds of neck; Thickened skin over the neck","HPO_Name__c":"Thickened nuchal skin fold","HPO_Feature_Type__c":"Imaging_Ultrasound_Fetal"}},{"Provided_By__c":"ORPHA:275864","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002354","HPO_Synonym__c":"Amnesia; Forgetfulness; Memory impairment; Memory loss; Memory problems; Poor memory","HPO_Name__c":"Memory impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275864","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An explicit or perceived action, demonstration, conduct, or language (verbal and written) that is contrary to generally accepted norms, rules, procedures, or unacceptable within the context in which it is carried out. Inappropriate behaviors could take place in a sexual or social context and could be aggressive, violent, impulsive, intimidating, or threatening in nature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000719","HPO_Synonym__c":"Inappropriate behavior","HPO_Name__c":"Inappropriate behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275864","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:275864","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Loss of previously present mental abilities, generally in adults.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001268","HPO_Synonym__c":"Cognitive decline; Cognitive decline, progressive; Intellectual deterioration; Mental deterioration; Progressive cognitive decline","HPO_Name__c":"Mental deterioration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275864","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002071","HPO_Synonym__c":"Extrapyramidal dysfunction; Extrapyramidal signs; Extrapyramidal symptoms; Extrapyramidal syndrome; Extrapyramidal tract signs","HPO_Name__c":"Abnormality of extrapyramidal motor function","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275864","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A learning disorder characterized primarily by difficulties in learning to read and spell. Dyslectic children also exhibit a tendency to read words from right to left and to confuse letters such as b and d whose orientation is important for their identification. Children with dyslexia appear to be impaired in phonemic skills (the ability to associate visual symbols with the sounds they represent).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010522","HPO_Synonym__c":"Reading disability","HPO_Name__c":"Dyslexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275864","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002069","HPO_Synonym__c":"Bilateral convulsive seizures; Generalised tonic-clonic seizure (without specification of onset); Generalized convulsion; Generalized tonic-clonic seizure (without specification of onset); Grand mal; Grand mal seizures; Seizures, tonic-clonic; Tonic-clonic convulsion; Tonic-clonic convulsions","HPO_Name__c":"Bilateral tonic-clonic seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275864","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000708","HPO_Synonym__c":"Behavioral abnormality; Behavioral changes; Behavioral disorders; Behavioral disturbances; Behavioral problems; Behavioral symptoms; Behavioral/psychiatric abnormalities; Behavioural symptoms; Behavioural/Psychiatric abnormality; Psychiatric disorders; Psychiatric disturbances","HPO_Name__c":"Atypical behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275864","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A writing disability in the absence of motor or sensory deficits of the upper extremities, resulting in an impairment in the ability to write regardless of the ability to read and not due to intellectual impairment.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010526","HPO_Name__c":"Dysgraphia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275864","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Atrophy (wasting, decrease in size of cells or tissue) affecting the frontotemporal cerebrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006892","HPO_Synonym__c":"Cerebral atrophy, frontotemporal","HPO_Name__c":"Frontotemporal cerebral atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275864","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002493","HPO_Synonym__c":"Corticospinal tract dysfunction; Pyramidal tract dysfunction","HPO_Name__c":"Upper motor neuron dysfunction","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275864","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Lack of insight (Anosognosia) is a neurological condition in which an individual is unaware of his or her own neurological deficit or psychiatric condition. Anosognosia can be associated with mental illness, dementia, and structural brain lesions and can affect an individual's conscious awareness of deficits involving judgment, emotions, memory, executive function, language skills, and motor ability.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000757","HPO_Synonym__c":"Anosognosia; Lack of insight","HPO_Name__c":"Lack of insight","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275864","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002465","HPO_Synonym__c":"Poor speech","HPO_Name__c":"Poor speech","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275864","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Behavior characterized by an abnormal limitation to a few interests and activities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000723","HPO_Synonym__c":"Restricted behavior; Restrictive behavior","HPO_Name__c":"Restrictive behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275864","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abulia is characterized by difficulty in initiating and sustaining spontaneous movements; the person often appears frozen but will move hesitantly on request. There are frequently substantial reductions in emotional responsiveness, spontaneous speech, and social interaction. The individual appears to be content to remain still and inactive with minimal movement, but moves or reacts hesitantly in response to interactions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012671","HPO_Synonym__c":"Aboulia","HPO_Name__c":"Abulia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275864","HPO_Frequency__c":"Very frequent (80-99%)","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"}},{"Provided_By__c":"ORPHA:275864","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:275864","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:275864","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000718","HPO_Synonym__c":"Aggression; Aggressive behavior; Aggressiveness","HPO_Name__c":"Aggressive behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275864","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Excessive or pathological tendency to save and collect possessions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030212","HPO_Synonym__c":"Collecting; Compulsive hoarding; Hoarding","HPO_Name__c":"Collectionism","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275864","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly detectable in [18F]-fluorodeoxyglucose (FDG) positron emission tomography (PET) brain scans. Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012658","HPO_Synonym__c":"Abnormal brain FDG PET scan","HPO_Name__c":"Abnormal brain FDG positron emission tomography","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Imaging_PET"}},{"Provided_By__c":"ORPHA:275864","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A condition characterized by changes in personality and thought patterns, often accompanied by hallucinations and delusional beliefs, is known as psychosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000709","HPO_Synonym__c":"Psychosis","HPO_Name__c":"Psychosis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275864","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"EEG showing diffuse slowing without interruption.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011204","HPO_Name__c":"EEG with continuous slow activity","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:275864","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:275864","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the cerebral white matter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002500","HPO_Synonym__c":"Abnormality of subcortical white matter; Abnormality of the cerebral white matter; Cerebral white matter abnormalities; Leukoaraiosis; White matter abnormalities; White matter alterations","HPO_Name__c":"Abnormal cerebral white matter morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275864","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A diminished ability to experience, express, or connect with emotions whether positive or negative. This state is often characterized by a pervasive sense of emotional disconnection or detachment, where the individual may report feeling \\\"numb\\\" or lacking emotional responses that were previously present. The reduction in emotional response can range from mild dampening of emotional responses to a near-total absence of emotional engagement. It is essential to consider the individual's baseline emotional capacity, as changes may be more significant in those who previously had a wide emotional range.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030213","HPO_Synonym__c":"Emotional blunting; Emotional Numbness; Emotionally barren; Inability to feel emotions","HPO_Name__c":"Emotional dearth","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275864","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:275864","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal shift in patterns of thinking, acting, or feeling.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000751","HPO_Synonym__c":"Personality change; Personality changes","HPO_Name__c":"Personality changes","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275864","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Complete lack of speech or verbal communication in a person despite attempts to engage in conversation. Mutism as a phenomena assumes the individual has previous capacity for speech and in the pediatric population it assumes that the person is past the age of typical language development.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002300","HPO_Synonym__c":"Inability to speak; Muteness","HPO_Name__c":"Mutism","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275864","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Echolalia is the automatic imitative repetition of sounds, words, or phrases in the absence of explicit awareness. The repeated words or phrases are typically odd or used in a non-social manner. These can be words or phrases that the affected individual has heard or invented.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010529","HPO_Synonym__c":"Echoing another person's speech; Echologia; Echophrasia; Repeated speech","HPO_Name__c":"Echolalia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275864","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:275864","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002380","HPO_Synonym__c":"Fasciculation; Muscle fasciculation; Muscle twitch","HPO_Name__c":"Fasciculations","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275864","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002371","HPO_Synonym__c":"Loss of speech","HPO_Name__c":"Loss of speech","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275864","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hyperorality is a condition characterized by an excessive preoccupation with oral sensations and behaviors, such as chewing, sucking, biting, swallowing, and excessive mouthing of objects.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000710","HPO_Synonym__c":"Hyperoralia; Hyperorality; Mouthing","HPO_Name__c":"Hyperorality","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275864","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An emotional state characterized by negative feelings of heightened frustration, annoyance, or feeling upset, often triggered by internal factors (e.g., fatigue, hunger, unfulfilled desires) or external factors (e.g., social or environmental challenges). Irritability may be unpredictable, and is accompanied by a lowered threshold for emotional reactivity and observable features (speech, facial expressions, or psychomotor activity).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000737","HPO_Synonym__c":"Cranky; Easily annoyed; Easily bothered; Easily upset; Grumpy; Hot-temper; Irritability; Irritable; Irritable mood; On edge; Quick-temper; Short fuse; Short tempered","HPO_Name__c":"Irritability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275864","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001347","HPO_Synonym__c":"Increased deep tendon reflexes; Increased reflexes","HPO_Name__c":"Hyperreflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275864","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A state of unease is characterized by diffuse motor activity or motion, which is subject to limited control, nonproductive, or disorganized behavior.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000711","HPO_Synonym__c":"Fidgetiness; Restiveness","HPO_Name__c":"Restlessness","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Psychiatry"]},"synonyms":["bv-ftd"]}