{"Name":"Frontotemporal dementia with motor neuron disease","DiseaseID__c":"GARD:0017273","id":17273,"encodedName":"frontotemporal-dementia-with-motor-neuron-disease","IsDeleted":false,"Disease_Name_Full__c":"Frontotemporal dementia with motor neuron disease","Xref_IDs__c":"C3888102; C566288; MEDGEN:854771; MONDO:0017161; OMIMPS:105550; ORPHA:275872","USA_Estimate__c":null,"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":null,"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:0017161","Disease_Description__c":"Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g. personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis; see this term). The disease is progressive, with death occurring 2-5 years after onset.","GARD_Name__c":"Frontotemporal dementia with motor neuron disease","GARD_Synonym__c":"amyotrophic lateral sclerosis with frontotemporal dementia; frontotemporal dementia with als; frontotemporal dementia with amyotrophic lateral sclerosis; ftd-als; ftd-mnd; ftdals","Curated_Disease_Description_Source__c":"ORPHA:275872","Curated_Disease_Description__c":"Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g., personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis). The disease is progressive, with death occurring 2-5 years after onset.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:275872","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017161","ORPHANET_ID__c":"ORPHA:275872","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Demencia frontotemporal con enfermedad de la motoneurona","Spanish_Description_Source__c":"ORPHA:275872","Spanish_Description__c":"Es un tipo de degeneración del lóbulo frontotemporal caracterizada por el inicio insidioso (entre los 38-78 años de edad) de síntomas psiquiátricos asociados a demencia (p. ej., cambios de personalidad, comportamiento desinhibido, irritabilidad, agresividad), problemas de memoria, discapacidad intelectual global, trastornos emocionales y afasia motora transcortical que eventualmente conduce a mutismo, además de manifestaciones de la enfermedad de la motoneurona, tales como atrofia muscular neurogénica (similar a la observada en la esclerosis lateral amiotrófica). La enfermedad es progresiva y el fallecimiento suele ocurrir a los 2 a 5 años de que debute la enfermedad.","Spanish_Disease_Name__c":"demencia frontotemporal con enfermedad de la motoneurona","Spanish_GARD_Synonym__c":"demencia frontotemporal con esclerosis lateral amiotrófica; ftd-als; ftd-mnd","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":"Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g., personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis). The disease is progressive, with death occurring 2-5 years after onset.","Curated_Disease_Description_Source__c":"ORPHA:275872","GARD_Synonym__c":"amyotrophic lateral sclerosis with frontotemporal dementia; frontotemporal dementia with als; frontotemporal dementia with amyotrophic lateral sclerosis; ftd-als; ftd-mnd; ftdals","Name":"Frontotemporal dementia with motor neuron disease","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"The Association for Frontotemporal Degeneration","Website__c":"https://www.theaftd.org/"},{"Account_Name__c":"Motor Neurone Disease Association","Website__c":"https://www.mndassociation.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:275872"}],"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/books/NBK5942","Source__c":"Gene Review","Xref__c":"NBK5942"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566288","Source__c":"MONDO:0017161","Xref__c":"C566288"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=854771","Source__c":"C3888102","Xref__c":"MEDGEN:854771"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS105550","Source__c":"MONDO:0017161","Xref__c":"OMIMPS:105550"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3888102","Source__c":"C3888102","Xref__c":"C3888102"},{"URL__c":"https://www.orpha.net/en/disease/detail/275872","Source__c":"C3888102; MONDO:0017161; ORPHA:275872","Xref__c":"ORPHA:275872"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1259124000","Source__c":"C3888102","Xref__c":"1259124000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017161","Source__c":"GARD:0017273","Xref__c":"MONDO:0017161"}],"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},{"GeneSymbol__c":"VCP","GHR_URL__c":"https://medlineplus.gov/genetics/gene/vcp","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"C9orf72","GHR_URL__c":"https://medlineplus.gov/genetics/gene/c9orf72","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CHCHD10","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},{"GeneSymbol__c":"TBK1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:275872","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:275872","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001283","HPO_Synonym__c":"Bulbar muscle weakness; Bulbar palsies; Bulbar weakness","HPO_Name__c":"Bulbar palsy","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275872","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:275872","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:275872","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:275872","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:275872","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any structural anomaly that affects the upper motor neuron.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002127","HPO_Synonym__c":"Abnormal shape of upper motor neuron","HPO_Name__c":"Abnormal upper motor neuron morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275872","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:275872","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:275872","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A lack of strength of the proximal muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003701","HPO_Synonym__c":"Muscle weakness, proximal; Proximal limb muscle weakness; Proximal limb weakness; Weakness in muscles of upper arms and upper legs","HPO_Name__c":"Proximal muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275872","HPO_Frequency__c":"Frequent (30-79%)","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:275872","HPO_Frequency__c":"Occasional (5-29%)","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:275872","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the mitochondria.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008322","HPO_Synonym__c":"Abnormal mitochondrion morphology","HPO_Name__c":"Abnormal mitochondrial morphology","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:275872","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002283","HPO_Synonym__c":"Diffuse brain atrophy; Generalized brain atrophy; Generalized brain degeneration; Generalized cerebral atrophy","HPO_Name__c":"Global brain atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275872","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010549","HPO_Synonym__c":"Paralysis due to lesions of the principle motor tracts","HPO_Name__c":"Weakness due to upper motor neuron dysfunction","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275872","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007190","HPO_Name__c":"Neuronal loss in the cerebral cortex","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275872","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Deterioration of the tissues of the lateral corticospinal tracts.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002314","HPO_Synonym__c":"Degeneration of lateral corticospinal tracts","HPO_Name__c":"Degeneration of the lateral corticospinal tracts","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275872","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:275872","HPO_Frequency__c":"Occasional (5-29%)","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:275872","HPO_Frequency__c":"Frequent (30-79%)","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:275872","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:275872","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:275872","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:275872","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:275872","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003700","HPO_Synonym__c":"Diffuse amyotrophy; Diffuse muscle atrophy; Diffuse muscle wasting; Diffuse skeletal muscle wasting; Generalized muscle atrophy; Generalized muscle degeneration; Muscle atrophy, diffuse; Muscle atrophy, generalized; Muscular atrophy, generalized","HPO_Name__c":"Generalized amyotrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275872","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002073","HPO_Synonym__c":"Cerebellar ataxia, progressive; Progressive ataxia","HPO_Name__c":"Progressive cerebellar ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275872","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000508","HPO_Synonym__c":"Blepharoptosis; Drooping upper eyelid; Eyelid ptosis; Palpebral ptosis","HPO_Name__c":"Ptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275872","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:275872","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":"ORPHA:275872","HPO_Frequency__c":"Occasional (5-29%)","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:275872","HPO_Frequency__c":"Frequent (30-79%)","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:275872","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:275872","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A form of sensorineural hearing impairment that affects both ears.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008619","HPO_Synonym__c":"Bilateral nerve deafness; Bilateral sensorineural deafness; Bilateral sensorineural hearing loss; Hearing loss, sensorineural, bilateral","HPO_Name__c":"Bilateral sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275872","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduction of neurologic reflexes such as the knee-jerk reaction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001265","HPO_Synonym__c":"Decreased reflex response; Decreased reflexes","HPO_Name__c":"Hyporeflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275872","HPO_Frequency__c":"Frequent (30-79%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Psychiatry"]},"synonyms":["amyotrophic lateral sclerosis with frontotemporal dementia"," frontotemporal dementia with als"," frontotemporal dementia with amyotrophic lateral sclerosis"," ftd-als"," ftd-mnd"," ftdals"]}