{"Name":"X-linked dystonia-parkinsonism","DiseaseID__c":"GARD:0010533","id":10533,"encodedName":"x-linked-dystonia-parkinsonism","IsDeleted":false,"Disease_Name_Full__c":"X-linked dystonia-parkinsonism","Xref_IDs__c":"698279003; C126330; C1839130; C564048; DOID:0090057; MEDGEN:326820; MONDO:0010747; NBK1489; OMIM:314250; ORPHA:53351","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":1,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":3,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0010747","Disease_Description__c":"X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course.","GARD_Name__c":"X-linked dystonia-parkinsonism","GARD_Synonym__c":"dystonia-parkinsonism, x-linked, x-linked recessive; dyt-taf1; dyt3; lubag; lubag syndrome; torsion dystonia parkinsonism filipino type; torsion dystonia-parkinsonism, filipino type; x-linked dystonia parkinsonism; x-linked dystonia-parkinsonism syndrome; x-linked torsion dystonia parkinsonism syndrome; xdp; xdp - x-linked dystonia parkinsonism","Curated_Disease_Description_Source__c":"MONDO:0010747","Curated_Disease_Description__c":"X-linked dystonia-parkinsonism is a movement disorder that has been found only in people of Filipino descent.  This condition affects men much more often than women. Parkinsonism is usually the first sign of X-linked dystonia-parkinsonism.  Parkinsonism is a group of movement abnormalities including tremors, unusually slow movement (bradykinesia), rigidity, an inability to hold the body upright and balanced (postural instability), and a shuffling gait that can cause recurrent falls. Later in life, many affected individuals also develop a pattern of involuntary, sustained muscle contractions known as dystonia.  The dystonia associated with X-linked dystonia-parkinsonism typically starts in one area, most often the eyes, jaw, or neck, and later spreads to other parts of the body.  The continuous muscle cramping and spasms can be disabling.  Depending on which muscles are affected, widespread (generalized) dystonia can cause difficulty with speaking, swallowing, coordination, and walking. The signs and symptoms of X-linked dystonia-parkinsonism vary widely.  In the mildest cases, affected individuals have slowly progressive parkinsonism with little or no dystonia.  More severe cases involve dystonia that rapidly becomes generalized.  These individuals become dependent on others for care within a few years after signs and symptoms appear, and they may die prematurely from breathing difficulties, infections (such as aspiration pneumonia), or other complications.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:53351","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010747","ORPHANET_ID__c":"ORPHA:53351","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distonía-parkinsonismo ligada al cromosoma x","Spanish_Description_Source__c":"ORPHA:53351","Spanish_Description__c":"La distonía-parkinsonismo ligada al X (XDP) es un trastorno degenerativo del movimiento caracterizado por un parkinsonismo de aparición en la edad adulta, acompañado con frecuencia por una distonía focal que se convierte en generalizada con el tiempo y que tiene una evolución clínica muy variable.","Spanish_Disease_Name__c":"distonía-parkinsonismo ligada al cromosoma x","Spanish_GARD_Synonym__c":"dyt3; lubag; síndrome de lubag; xdp","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":"X-linked dystonia-parkinsonism is a movement disorder that has been found only in people of Filipino descent.  This condition affects men much more often than women. Parkinsonism is usually the first sign of X-linked dystonia-parkinsonism.  Parkinsonism is a group of movement abnormalities including tremors, unusually slow movement (bradykinesia), rigidity, an inability to hold the body upright and balanced (postural instability), and a shuffling gait that can cause recurrent falls. Later in life, many affected individuals also develop a pattern of involuntary, sustained muscle contractions known as dystonia.  The dystonia associated with X-linked dystonia-parkinsonism typically starts in one area, most often the eyes, jaw, or neck, and later spreads to other parts of the body.  The continuous muscle cramping and spasms can be disabling.  Depending on which muscles are affected, widespread (generalized) dystonia can cause difficulty with speaking, swallowing, coordination, and walking. The signs and symptoms of X-linked dystonia-parkinsonism vary widely.  In the mildest cases, affected individuals have slowly progressive parkinsonism with little or no dystonia.  More severe cases involve dystonia that rapidly becomes generalized.  These individuals become dependent on others for care within a few years after signs and symptoms appear, and they may die prematurely from breathing difficulties, infections (such as aspiration pneumonia), or other complications.","Curated_Disease_Description_Source__c":"MONDO:0010747","GARD_Synonym__c":"dystonia-parkinsonism, x-linked, x-linked recessive; dyt-taf1; dyt3; lubag; lubag syndrome; torsion dystonia parkinsonism filipino type; torsion dystonia-parkinsonism, filipino type; x-linked dystonia parkinsonism; x-linked dystonia-parkinsonism syndrome; x-linked torsion dystonia parkinsonism syndrome; xdp; xdp - x-linked dystonia parkinsonism","Name":"X-linked dystonia-parkinsonism","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Dystonia Medical Research Foundation","Website__c":"https://dystonia-foundation.org/"},{"Account_Name__c":"Parkinson & Movement Disorder Alliance","Website__c":"https://www.pmdalliance.org/"},{"Account_Name__c":"International Parkinson and Movement Disorder Society","Website__c":"https://www.movementdisorders.org/"},{"Account_Name__c":"Dystonia Society","Website__c":"https://www.dystonia.org.uk/"}],"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":"Dystonia","Tag_Category__c":"Account","curated_tag_name":"Dystonia"},{"Tag_Name__c":"Parkinsonism","Tag_Category__c":"Account","curated_tag_name":"Parkinsonism"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:53351"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1839130"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010533","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1489","Source__c":"Gene Review","Xref__c":"NBK1489"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564048","Source__c":"MONDO:0010747","Xref__c":"C564048"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=698279003","Source__c":"C1839130; MONDO:0010747","Xref__c":"698279003"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C126330","Source__c":"C1839130; MONDO:0010747","Xref__c":"C126330"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0090057","Source__c":"MONDO:0010747","Xref__c":"DOID:0090057"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1839130","Source__c":"C1839130","Xref__c":"C1839130"},{"URL__c":"https://www.orpha.net/en/disease/detail/53351","Source__c":"C1839130; MONDO:0010747; ORPHA:53351","Xref__c":"ORPHA:53351"},{"URL__c":"https://www.omim.org/entry/314250","Source__c":"C1839130; MONDO:0010747; ORPHA:53351","Xref__c":"OMIM:314250"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=326820","Source__c":"C1839130","Xref__c":"MEDGEN:326820"},{"URL__c":"https://medlineplus.gov/genetics/condition/x-linked-dystonia-parkinsonism","Source__c":"GARD:0010533","Xref__c":"https://medlineplus.gov/genetics/condition/x-linked-dystonia-parkinsonism"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010747","Source__c":"GARD:0010533","Xref__c":"MONDO:0010747"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TAF1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/taf1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:53351","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002072","HPO_Synonym__c":"Choreic movements; Choreiform movements","HPO_Name__c":"Chorea","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:53351","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011951","HPO_Name__c":"Aspiration pneumonia","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:53351","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unintentional, oscillating to-and-fro muscle movement affecting the hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002378","HPO_Synonym__c":"Hand tremor; Tremor of hand; Tremor of hands; tremors in hands","HPO_Name__c":"Hand tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:53351","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A progressive degree of muscular rigidity (continuous contraction of muscles with constant resistance to passive movement).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007158","HPO_Synonym__c":"Progressive extrapyramidal rigidity","HPO_Name__c":"Progressive extrapyramidal muscular rigidity","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:53351","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Delay or absence of the swallow response, reflexes triggered by the contact the food bolus makes with the anterior faucial pillars.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031162","HPO_Name__c":"Impaired oropharyngeal swallow response","Feature_System__c":"Nervous System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:53351","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002172","HPO_Synonym__c":"Balance impairment","HPO_Name__c":"Postural instability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:53351","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of dystonia that is localized to a specific part of the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004373","HPO_Name__c":"Focal dystonia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:53351","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:53351","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Parkinsonism is a clinical syndrome that is a feature of a number of different diseases, including Parkinson disease itself, other neurodegenerative diseases such as progressive supranuclear palsy, and as a side-effect of some neuroleptic medications. Some but not all individuals with Parkinsonism show responsiveness to dopaminergic medication defined as a substantial reduction of amelioration of the component signs of Parkinsonism (including mainly tremor, bradykinesia, rigidity, and postural instability) upon administration of dopaminergic medication.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002548","HPO_Name__c":"Parkinsonism with favorable response to dopaminergic medication","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:53351","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000643","HPO_Synonym__c":"Eyelid spasm; Eyelid twitching; Involuntary closure of eyelid; Spontaneous closure of eyelid","HPO_Name__c":"Blepharospasm","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:53351","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal high-pitched noisy sound, occurring during inhalation or exhalation caused by the incomplete obstruction in the throat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006511","HPO_Synonym__c":"Laryngeal stidor","HPO_Name__c":"Laryngeal stridor","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:53351","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001304","HPO_Synonym__c":"Dystonia musculorum deformans","HPO_Name__c":"Torsion dystonia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:53351","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002451","HPO_Name__c":"Limb dystonia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:53351","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Tongue extending beyond the alveolar ridges or teeth at rest.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010808","HPO_Synonym__c":"Lingual prolapse; Lingual prominence; Lingual protrusion; Prolapse of tongue; Prominent tongue; Protruding tongue; Tongue protrusion; Tongue sticking out of mouth","HPO_Name__c":"Protruding tongue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:53351","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:53351","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002322","HPO_Synonym__c":"Rest tremor; Resting tremor; Tremor at rest","HPO_Name__c":"Resting tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:53351","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002359","HPO_Synonym__c":"Frequent falls","HPO_Name__c":"Frequent falls","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:53351","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of gait (walking) characterized by by dragging one's feet along or without lifting the feet fully from the ground.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002362","HPO_Synonym__c":"Shuffled walk","HPO_Name__c":"Shuffling gait","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:53351","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002067","HPO_Synonym__c":"Slow movements; Slowness of movements","HPO_Name__c":"Bradykinesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology"],"Account":["Dystonia","Parkinsonism"]},"synonyms":["dystonia-parkinsonism, x-linked, x-linked recessive"," dyt-taf1"," dyt3"," lubag"," lubag syndrome"," torsion dystonia parkinsonism filipino type"," torsion dystonia-parkinsonism, filipino type"," x-linked dystonia parkinsonism"," x-linked dystonia-parkinsonism syndrome"," x-linked torsion dystonia parkinsonism syndrome"," xdp"," xdp - x-linked dystonia parkinsonism"]}