{"Name":"Stiff-person syndrome","DiseaseID__c":"GARD:0005023","id":5023,"encodedName":"stiff-person-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Stiff-person syndrome","Xref_IDs__c":"423022905; 5217008; C0085292; C85170; D016750; DOID:13366; G25.82; MEDGEN:39017; MONDO:0008491; OMIM:184850; ORPHA:3198","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":2,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":5,"Description_Source__c":"MONDO:0008491","Disease_Description__c":"A rare neurological disorder comprising fluctuating trunk and limb stiffness, painful muscle spasms, task-specific phobia related to walking, an exaggerated startle response, and often ankylosing deformities such as fixed lumbar hyperlordosis.","GARD_Name__c":"Stiff-person syndrome","GARD_Synonym__c":"gamma neuron overactivity syndrome; moersch-woltman syndrome; sms; sps; stiff man syndrome; stiff person spectrum disorder; stiff person syndrome; stiff-man syndrome; stiff-trunk syndrome","Curated_Disease_Description_Source__c":"GARD:0005023","Curated_Disease_Description__c":"Stiff person syndrome (SPS) is a rare, progressive syndrome that affects the nervous system, specifically the brain and spinal cord. Symptoms may include extreme muscle stiffness, rigidity and painful spasms in the trunk and limbs, severely impairing mobility. Spasms can generate enough force to fracture bone. People with SPS often have heightened sensitivity to noise, sudden movements, and emotional distress, which can set off muscle spasms. Persistent symptoms can lead to abnormal posturing of the spine, such as being hunched over. The syndrome affects twice as many women as men. SPS is caused by increased muscle activity due to decreased inhibition of the central nervous system. It is thought to have an autoimmune component and is often associated with diabetes, as well as other autoimmune diseases such as thyroiditis, vitiligo, and pernicious anemia. It may be diagnosed after having various tests including blood tests (such as for glutamic acid decarboxylase (GAD) antibodies which is elevated in about 2 in 3 people with SPS), a lumbar puncture, and electromyography.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:3198","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0008491","ORPHANET_ID__c":"ORPHA:3198","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Trastorno del espectro de la persona rígida","Spanish_Description_Source__c":"ORPHA:3198","Spanish_Description__c":"Es un trastorno neurológico poco frecuente caracterizado por rigidez fluctuante del tronco y de las extremidades, espasmos musculares dolorosos, ambulofobia, una respuesta exagerada al sobresalto y, con frecuencia, deformidades anquilosantes como la hiperlordosis lumbar fija.","Spanish_Disease_Name__c":"trastorno del espectro de la persona rígida","Spanish_GARD_Synonym__c":"sps; síndrome de moersch-woltman; trastorno del espectro del hombre rígido","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":"Stiff person syndrome (SPS) is a rare, progressive syndrome that affects the nervous system, specifically the brain and spinal cord. Symptoms may include extreme muscle stiffness, rigidity and painful spasms in the trunk and limbs, severely impairing mobility. Spasms can generate enough force to fracture bone. People with SPS often have heightened sensitivity to noise, sudden movements, and emotional distress, which can set off muscle spasms. Persistent symptoms can lead to abnormal posturing of the spine, such as being hunched over. The syndrome affects twice as many women as men. SPS is caused by increased muscle activity due to decreased inhibition of the central nervous system. It is thought to have an autoimmune component and is often associated with diabetes, as well as other autoimmune diseases such as thyroiditis, vitiligo, and pernicious anemia. It may be diagnosed after having various tests including blood tests (such as for glutamic acid decarboxylase (GAD) antibodies which is elevated in about 2 in 3 people with SPS), a lumbar puncture, and electromyography.","Curated_Disease_Description_Source__c":"GARD:0005023","GARD_Synonym__c":"gamma neuron overactivity syndrome; moersch-woltman syndrome; sms; sps; stiff man syndrome; stiff person spectrum disorder; stiff person syndrome; stiff-man syndrome; stiff-trunk syndrome","Name":"Stiff-person syndrome","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Autoimmune Registry","Website__c":"https://www.autoimmuneregistry.org/"},{"Account_Name__c":"The Stiff Person Syndrome Research Foundation","Website__c":"https://stiffperson.org/"},{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"International Parkinson and Movement Disorder Society","Website__c":"https://www.movementdisorders.org/"},{"Account_Name__c":"Autoimmune Association","Website__c":"https://autoimmune.org/"},{"Account_Name__c":"Stiff Person Syndrome Support Group","Website__c":"http://www.smssupportgroup.co.uk/"}],"GARD_Disease_Tag__c":[{"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":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:3198"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:3198"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:3198"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:3198"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:3198"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C016750","Source__c":"C0085292; MONDO:0008491","Xref__c":"D016750"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A13366","Source__c":"MONDO:0008491","Xref__c":"DOID:13366"},{"URL__c":"https://www.omim.org/entry/184850","Source__c":"C0085292; MONDO:0008491; ORPHA:3198","Xref__c":"OMIM:184850"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=5217008","Source__c":"C0085292; MONDO:0008491","Xref__c":"5217008"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=39017","Source__c":"C0085292","Xref__c":"MEDGEN:39017"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0085292","Source__c":"C0085292","Xref__c":"C0085292"},{"URL__c":"https://www.orpha.net/en/disease/detail/3198","Source__c":"C0085292; MONDO:0008491; ORPHA:3198","Xref__c":"ORPHA:3198"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C85170","Source__c":"C0085292; MONDO:0008491","Xref__c":"C85170"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/G25.82","Source__c":"MONDO:0008491","Xref__c":"G25.82"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008491","Source__c":"GARD:0005023","Xref__c":"MONDO:0008491"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022905","Xref__c":"423022905"},{"URL__c":"https://www.ninds.nih.gov/health-information/disorders/stiff-person-syndrome"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3198","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:3198","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glutamic acid decarboxylase 65 (GAD65).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:5000011","HPO_Synonym__c":"Anti-glutamic acid decarboxylase 65 antibody","HPO_Name__c":"Anti-GAD65 antibody","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3198","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Pain in muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003326","HPO_Synonym__c":"Muscle ache; Muscle pain","HPO_Name__c":"Myalgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3198","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000975","HPO_Synonym__c":"Diaphoresis; Excessive sweating; Increased sweating; Profuse sweating; Sweating; Sweating profusely; Sweating, increased","HPO_Name__c":"Hyperhidrosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3198","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"History of repeated intermittent involuntary muscle contractions that were painful.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011964","HPO_Name__c":"Intermittent painful muscle spasms","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3198","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"A structural anomaly of the nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012639","HPO_Synonym__c":"Abnormal shape of nervous system; Abnormality of nervous system morphology","HPO_Name__c":"Abnormal nervous system morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3198","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of anxiety disorder characterized by the avoidance of public places, especially where crowds gather.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000756","HPO_Synonym__c":"Fear of open spaces","HPO_Name__c":"Agoraphobia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3198","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001336","HPO_Synonym__c":"Myoclonic jerks","HPO_Name__c":"Myoclonus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3198","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Muscle hypertrophy affecting the paraspinal muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012894","HPO_Name__c":"Paraspinal muscle hypertrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3198","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal results of investigations using electromyography (EMG).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003457","HPO_Synonym__c":"Abnormal electromyography finding; Abnormal EMG; Electromyogram abnormal; EMG abnormalities","HPO_Name__c":"EMG abnormality","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Procedure_EMG"}},{"Provided_By__c":"ORPHA:3198","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Deficiency of thyroid hormone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000821","HPO_Synonym__c":"Low T4; Underactive thyroid","HPO_Name__c":"Hypothyroidism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3198","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Freezing of gait is defined as a brief, episodic absence or marked reduction of forward progression of the feet despite the intention to walk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031825","HPO_Synonym__c":"Freezing gait","HPO_Name__c":"Freezing of gait","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3198","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A group of abnormalities characterized by hyperglycemia and glucose intolerance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000819","HPO_Name__c":"Diabetes mellitus","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3198","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002527","HPO_Synonym__c":"Falls","HPO_Name__c":"Falls","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3198","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal accentuation of the inward curvature of the spine in the lumbar region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002938","HPO_Synonym__c":"Exaggerated lumbar lordosis; Excessive inward curvature of lower spine; Increased lumbar lordosis; Lumbar lordosis; Prominent lumbar lordosis","HPO_Name__c":"Lumbar hyperlordosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3198","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002267","HPO_Synonym__c":"Exaggerated acoustic startle response; Increased startle response","HPO_Name__c":"Exaggerated startle response","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3198","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000651","HPO_Synonym__c":"Double vision","HPO_Name__c":"Diplopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3198","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002104","HPO_Synonym__c":"Absence of spontaneous respiration; Apneic episodes; Apnoea","HPO_Name__c":"Apnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3198","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Gephyrin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:5000012","HPO_Name__c":"Anti-Gephyrin antibody","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3198","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030057","HPO_Name__c":"Autoimmune antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3198","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Infrequent or difficult evacuation of feces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002019","HPO_Synonym__c":"Constipation; Costiveness; Dyschezia","HPO_Name__c":"Constipation","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3198","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal sensation of spinning while the body is actually stationary.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002321","HPO_Synonym__c":"Dizzy spell","HPO_Name__c":"Vertigo","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3198","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against dipeptidyl-peptidase-like protein 6 (DPPX).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:5000007","HPO_Synonym__c":"Anti-dipeptidyl-peptidase-like protein 6 antibody","HPO_Name__c":"Anti-DPPX antibody","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3198","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Amphiphysin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:5000002","HPO_Name__c":"Anti-Amphiphysin antibody","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3198","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Glycine receptor (GlyR).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:5000014","HPO_Synonym__c":"Anti-glycine receptor antibody","HPO_Name__c":"Anti-GlyR antibody","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3198","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000739","HPO_Synonym__c":"Anxiety; Anxiousness; Excessive, persistent worry and fear","HPO_Name__c":"Anxiety","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3198","HPO_Frequency__c":"Frequent (30-79%)","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:3198","HPO_Frequency__c":"Frequent (30-79%)","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:3198","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"}},{"Provided_By__c":"ORPHA:3198","HPO_Frequency__c":"Frequent (30-79%)","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:3198","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"}}],"tags":{"Disease Category":["Neurology","Endocrine"],"Specialist":["Neurology","Endocrine","Pediatrics"]},"synonyms":["gamma neuron overactivity syndrome"," moersch-woltman syndrome"," sms"," sps"," stiff man syndrome"," stiff person spectrum disorder"," stiff person syndrome"," stiff-man syndrome"," stiff-trunk syndrome"],"spanishId":13335,"spanishName":"sindrome-de-la-persona-rigida"}