{"Name":"CARASIL syndrome","DiseaseID__c":"GARD:0010424","id":10424,"encodedName":"carasil-syndrome","IsDeleted":false,"Disease_Name_Full__c":"CARASIL syndrome","Xref_IDs__c":"703219008; C1838577; C202018; C563990; MEDGEN:325051; MONDO:0010829; OMIM:600142; ORPHA:199354","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0010829","Disease_Description__c":"CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia.","GARD_Name__c":"CARASIL syndrome","GARD_Synonym__c":"carasil; cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 2; cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy; cerebrovascular disease with thin skin, alopecia, and disc disease; maeda syndrome; nemoto disease; subcortical vascular encephalopathy, progressive","Curated_Disease_Description_Source__c":"GARD:0010424","Curated_Disease_Description__c":"Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, commonly known as CARASIL, is an inherited condition that causes stroke and other impairments. Abnormalities affecting the brain and other parts of the nervous system become apparent in an affected person's twenties or thirties. Often, muscle stiffness (spasticity) in the legs and problems with walking are the first signs of the disorder. About half of affected individuals have a stroke or similar episode before age 40. As the disease progresses, most people with CARASIL also develop mood and personality changes, a decline in thinking ability (dementia), memory loss, and worsening problems with movement. Other characteristic features of CARASIL include premature hair loss (alopecia) and attacks of low back pain. The hair loss often begins during adolescence and is limited to the scalp. Back pain, which develops in early to mid-adulthood, results from the breakdown (degeneration) of the discs that separate the  bones of the spine (vertebrae) from one another. The signs and symptoms of CARASIL worsen slowly with time. Over the course of several years, affected individuals become less able to control their emotions and communicate with others. They increasingly require help with personal care and other activities of daily living; after a few years, they become unable to care for themselves. Most affected individuals die within a decade after signs and symptoms first appear, although few people with the disease have survived for 20 to 30 years.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Teenager and as an Adult","SourceID__c":"ORPHA:199354","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010829","ORPHANET_ID__c":"ORPHA:199354","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Arteriopatía cerebral autosómica recesiva-infarto subcortical-leucoencefalopatía","Spanish_Description_Source__c":"ORPHA:199354","Spanish_Description__c":"CARASIL es una enfermedad cerebral y hereditaria de pequeños vasos que se caracteriza por alteraciones de la marcha de aparición temprana, alopecia prematura del cuero cabelludo, accidente cerebrovascular isquémico, dolor agudo de la mitad inferior de la espalda y alteraciones cognitivas progresivas que conducen a una demencia grave.","Spanish_Disease_Name__c":"arteriopatía cerebral autosómica recesiva-infarto subcortical-leucoencefalopatía","Spanish_GARD_Synonym__c":"carasil; síndrome de maeda","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":"Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, commonly known as CARASIL, is an inherited condition that causes stroke and other impairments. Abnormalities affecting the brain and other parts of the nervous system become apparent in an affected person's twenties or thirties. Often, muscle stiffness (spasticity) in the legs and problems with walking are the first signs of the disorder. About half of affected individuals have a stroke or similar episode before age 40. As the disease progresses, most people with CARASIL also develop mood and personality changes, a decline in thinking ability (dementia), memory loss, and worsening problems with movement. Other characteristic features of CARASIL include premature hair loss (alopecia) and attacks of low back pain. The hair loss often begins during adolescence and is limited to the scalp. Back pain, which develops in early to mid-adulthood, results from the breakdown (degeneration) of the discs that separate the  bones of the spine (vertebrae) from one another. The signs and symptoms of CARASIL worsen slowly with time. Over the course of several years, affected individuals become less able to control their emotions and communicate with others. They increasingly require help with personal care and other activities of daily living; after a few years, they become unable to care for themselves. Most affected individuals die within a decade after signs and symptoms first appear, although few people with the disease have survived for 20 to 30 years.","Curated_Disease_Description_Source__c":"GARD:0010424","GARD_Synonym__c":"carasil; cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 2; cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy; cerebrovascular disease with thin skin, alopecia, and disc disease; maeda syndrome; nemoto disease; subcortical vascular encephalopathy, progressive","Name":"CARASIL syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"United Leukodystrophy Foundation","Website__c":"https://ulf.org/"},{"Account_Name__c":"Alex The Leukodystrophy Charity","Website__c":"https://www.alextlc.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"},{"Tag_Name__c":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:199354"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:199354"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1838577"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010424","Source__c":"RareSource"},{"URL__c":"https://ui.transltr.io/demo/disease/MONDO:0007432","Source__c":"Biomedical Data Translator","Xref__c":"7432"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK32533","Source__c":"Gene Review","Xref__c":"NBK32533"},{"URL__c":"https://www.orpha.net/en/disease/detail/199354","Source__c":"C1838577; MONDO:0010829; ORPHA:199354","Xref__c":"ORPHA:199354"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=325051","Source__c":"C1838577","Xref__c":"MEDGEN:325051"},{"URL__c":"https://www.omim.org/entry/600142","Source__c":"C1838577; MONDO:0010829; ORPHA:199354","Xref__c":"OMIM:600142"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=703219008","Source__c":"C1838577; MONDO:0010829","Xref__c":"703219008"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563990","Source__c":"MONDO:0010829","Xref__c":"C563990"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1838577","Source__c":"C1838577","Xref__c":"C1838577"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C202018","Source__c":"C1838577","Xref__c":"C202018"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010829","Source__c":"GARD:0010424","Xref__c":"MONDO:0010829"},{"URL__c":"https://medlineplus.gov/genetics/condition/cerebral-autosomal-recessive-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy","Source__c":"GARD:0010424","Xref__c":"https://medlineplus.gov/genetics/condition/cerebral-autosomal-recessive-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HTRA1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/htra1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:199354","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002497","HPO_Name__c":"Spastic ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199354","HPO_Frequency__c":"Occasional (5-29%)","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:199354","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012514","HPO_Synonym__c":"Leg pain; Lower limb pain","HPO_Name__c":"Lower limb pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199354","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001269","HPO_Synonym__c":"Weakness of one side of body","HPO_Name__c":"Hemiparesis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199354","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003418","HPO_Synonym__c":"Back pain","HPO_Name__c":"Back pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199354","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"No consensus exists on what a stroke-like episode is, but these episodes can be functionally defined as a new neurological deficit, occurring with or without the context of seizures, which last longer than 24 hours.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002401","HPO_Synonym__c":"Stroke-like episodes; Strokelike episodes","HPO_Name__c":"Stroke-like episode","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199354","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:199354","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001297","HPO_Synonym__c":"Cerebral vascular events; Cerebrovascular accident; Stroke","HPO_Name__c":"Stroke","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199354","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003474","HPO_Synonym__c":"Sensory impairment","HPO_Name__c":"Somatic sensory dysfunction","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199354","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Diffuse unlocalised atrophy affecting the cerebrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002506","HPO_Synonym__c":"Cerebral atrophy, diffuse","HPO_Name__c":"Diffuse cerebral atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199354","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002751","HPO_Name__c":"Kyphoscoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199354","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002293","HPO_Synonym__c":"Pathologic hair loss from scalp; Scalp hair loss","HPO_Name__c":"Alopecia of scalp","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199354","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002063","HPO_Synonym__c":"Muscle rigidity; Rigidity","HPO_Name__c":"Rigidity","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199354","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100543","HPO_Synonym__c":"Abnormality of cognition; Cognitive abnormality; Cognitive defects; Cognitive deficits; Cognitive impairment; Intellectual impairment","HPO_Name__c":"Cognitive impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199354","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:199354","HPO_Frequency__c":"Uncommon (<1-4%)","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:199354","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Areas of brighter than expected signal on magnetic resonance imaging emanating from locations distant from the ventricular system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030892","HPO_Synonym__c":"DWMH","HPO_Name__c":"Deep cerebral white matter hyperintensities","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Imaging_MRI"}},{"Provided_By__c":"ORPHA:199354","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040161","HPO_Name__c":"Localized osteoporosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199354","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Sclerosis (hardening) of the arteries with increased thickness of the wall of arteries as well as increased stiffness and a loss of elasticity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002634","HPO_Name__c":"Arteriosclerosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199354","HPO_Frequency__c":"Occasional (5-29%)","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:199354","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Accumulation of granular osmiophilic material in blood vessel walls. Osmiophilic material becomes black upon staining with osmium tetroxide. Deposition of granular osmiophilic material (GOM) is the vascular pathological hallmark of CADASIL, which is the most prevalent hereditary small vessel disease and is caused by missense mutations in the NOTCH3 gene. GOM have been shown to contain NOTCH3 ectodomain (NOTCH3ECD) and extracellular matrix proteins, and can be visualized ultrastructurally in the tunica media of small arteries and capillaries. These electron dense GOM deposits are located in the basement membrane of mural cells, i.e. vascular smooth muscle cells and pericytes. In both manifest and pre-manifest CADASIL patients, GOM deposits are present not only in brain vessels, but also in vessels of other organs, such as the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003657","HPO_Synonym__c":"Granular osmiophilic deposits (GROD) in cells","HPO_Name__c":"Vascular granular osmiophilic material deposition","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199354","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030833","HPO_Synonym__c":"Neck pain","HPO_Name__c":"Neck pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199354","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:199354","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:199354","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:199354","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:199354","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Arthrosis, i.e., of degenerative joint disease, affecting the cervical vertebral column.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008480","HPO_Synonym__c":"Cervical osteoarthritis; Cervical spine degeneration; Neck arthritis","HPO_Name__c":"Cervical spondylosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199354","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Bilateral impairment of the function of the cranial nerves 9-12, which control musculature involved in eating, swallowing, and speech. Pseudobulbar paralysis is characterized clinically by dysarthria, dysphonia, and dysphagia with bifacial paralysis, and may be accompanied by Pseudobulbar behavioral symptoms such as enforced crying and laughing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007024","HPO_Synonym__c":"Pseudobulbar palsy; Pseudobulbar syndrome","HPO_Name__c":"Pseudobulbar paralysis","Feature_System__c":"Nervous System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199354","HPO_Frequency__c":"Occasional (5-29%)","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:199354","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The combined absence of spontaneous movement (akinesia) and speech (mutism). There may be eye movements consistent with visual tracking and the person may remember the events occurring at the time of the experience of stupor.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012672","HPO_Synonym__c":"Stuporous mutism","HPO_Name__c":"Akinetic mutism","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199354","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Functional neurological abnormalities related to dysfunction of the pyramidal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007256","HPO_Synonym__c":"Corticospinal signs; Pyramidal signs; Pyramidal tract signs","HPO_Name__c":"Abnormal pyramidal sign","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199354","HPO_Frequency__c":"Frequent (30-79%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Psychiatry","Vascular Medicine","Pediatrics"]},"synonyms":["carasil"," cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 2"," cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy"," cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy"," cerebrovascular disease with thin skin, alopecia, and disc disease"," maeda syndrome"," nemoto disease"," subcortical vascular encephalopathy, progressive"]}