Phenotypes associated with the disease Behavioral variant of frontotemporal dementia (ORPHA:275864):
- Thickened nuchal skin fold (HP:0000474): 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. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:275864)
- Atypical behavior (HP:0000708): 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. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:275864)
- Hyperorality (HP:0000710): 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. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:275864)
- Restlessness (HP:0000711): A state of unease is characterized by diffuse motor activity or motion, which is subject to limited control, nonproductive, or disorganized behavior. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:275864)
- Aggressive behavior (HP:0000718): 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). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:275864)
- Inappropriate behavior (HP:0000719): 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. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:275864)
- Restrictive behavior (HP:0000723): Behavior characterized by an abnormal limitation to a few interests and activities. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:275864)
- Motor stereotypy (HP:0000733): 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. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:275864)
- Disinhibition (HP:0000734): 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. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:275864)
- Irritability (HP:0000737): 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). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:275864)
- Personality changes (HP:0000751): An abnormal shift in patterns of thinking, acting, or feeling. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:275864)
- Lack of insight (HP:0000757): 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. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:275864)
- Mental deterioration (HP:0001268): Loss of previously present mental abilities, generally in adults. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:275864)
- Frontotemporal dementia (HP:0002145): 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. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:275864)
- Memory impairment (HP:0002354): An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:275864)
- Loss of speech (HP:0002371). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:275864)
- Aphasia (HP:0002381): An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:275864)
- Dyscalculia (HP:0002442): A specific learning disability involving mathematics and arithmetic. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:275864)
- Poor speech (HP:0002465). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:275864)
- Frontotemporal cerebral atrophy (HP:0006892): Atrophy (wasting, decrease in size of cells or tissue) affecting the frontotemporal cerebrum. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:275864)
- Dyslexia (HP:0010522): 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). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:275864)
- Dysgraphia (HP:0010526): 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. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:275864)
- Echolalia (HP:0010529): 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. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:275864)
- Emotional dearth (HP:0030213): A diminished ability to experience, express, or connect with emotions across both positive and negative valences. 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 can range from mild dampening of emotional responses to a near-total absence of emotional engagement. It is important to consider the individual's baseline emotional competence, as changes in emotional capacity may be more indicative of this phenomenon in those with a previously broad emotional range. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:275864)
- Perseverative thought (HP:0030223): The repetitive production of the same response to different commands. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:275864)
- Abnormal cerebral white matter morphology (HP:0002500): An abnormality of the cerebral white matter. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:275864)
- EEG with continuous slow activity (HP:0011204): EEG showing diffuse slowing without interruption. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:275864)
- Abnormal brain FDG positron emission tomography (HP:0012658): 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. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:275864)
- Collectionism (HP:0030212): Excessive or pathological tendency to save and collect possessions. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:275864)
- Psychosis (HP:0000709): A condition characterized by changes in personality and thought patterns, often accompanied by hallucinations and delusional beliefs, is known as psychosis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:275864)
- Apathy (HP:0000741): 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. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:275864)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:275864)
- Hyperreflexia (HP:0001347): Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:275864)
- Bilateral tonic-clonic seizure (HP:0002069): 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. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:275864)
- Abnormality of extrapyramidal motor function (HP:0002071): 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). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:275864)
- Mutism (HP:0002300): 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. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:275864)
- Fasciculations (HP:0002380): 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. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:275864)
- Astrocytosis (HP:0002446): Proliferation of astrocytes in the area of a lesion of the central nervous system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:275864)
- Upper motor neuron dysfunction (HP:0002493): 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. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:275864)
- Abulia (HP:0012671): 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. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:275864)