{"Name":"Parkinsonism-dystonia, infantile","DiseaseID__c":"GARD:0010484","id":10484,"encodedName":"parkinsonism-dystonia-infantile","IsDeleted":false,"Disease_Name_Full__c":"Parkinsonism-dystonia, infantile","Xref_IDs__c":"C129866; C2751067; C567730; MEDGEN:413468; MONDO:0013150; OMIMPS:613135; ORPHA:238455","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":2,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0013150","Disease_Description__c":"Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal.","GARD_Name__c":"Parkinsonism-dystonia, infantile","GARD_Synonym__c":"dopamine transporter deficiency syndrome; infantile dystonia parkinsonism; infantile dystonia-parkinsonism; infantile parkinsonism-dystonia; ipd; parkinsonism-dystonia infantile; pkdys","Curated_Disease_Description_Source__c":"GARD:0010484","Curated_Disease_Description__c":"Infantile dystonia-parkinsonism, also known as Dopamine transporter deficiency syndrome  or DTDS, is a rare movement disorder that causes progressive (worsening) dystonia and parkinsonism. It usually begins in infancy. Some people with this condition may not develop symptoms until childhood or later. The dystonia in infantile dystonia-parkinsonism is characterized by uncontrollable (involuntary), long-lasting muscle contractions and cramps that involve many different muscles. Dystonia causes difficulty with daily activities and impairs the ability to talk, eat, drink, pick up objects, and walk. Parkinsonism develops as the disorder progresses and is characterized by tremor (shaking), slowed movements (bradykinesia), rigidity (stiffness), and impaired balance and coordination. Additional symptoms that may be present include abnormal eye movements, reduced facial expressions, irritability, sleeping problems, digestive problems (such as reflux or constipation), and recurrent pneumonia which can be life-threatening. Infantile dystonia-parkinsonism is caused by genetic changes in the SLC6A3 gene and inheritance is autosomal recessive.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:238455","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0013150","ORPHANET_ID__c":"ORPHA:238455","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distonía-parkinsonismo infantil","Spanish_Description_Source__c":"ORPHA:238455","Spanish_Description__c":"La distonía-parkinsonismo infantil (IPD) es un síndrome neurológico hereditario extremadamente raro que se presenta en la primera infancia con parkinsonismo hipocinético y distonía, y que puede resultar mortal.","Spanish_Disease_Name__c":"distonía-parkinsonismo infantil","Spanish_GARD_Synonym__c":"ipd; pkdys","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":"Infantile dystonia-parkinsonism, also known as Dopamine transporter deficiency syndrome  or DTDS, is a rare movement disorder that causes progressive (worsening) dystonia and parkinsonism. It usually begins in infancy. Some people with this condition may not develop symptoms until childhood or later. The dystonia in infantile dystonia-parkinsonism is characterized by uncontrollable (involuntary), long-lasting muscle contractions and cramps that involve many different muscles. Dystonia causes difficulty with daily activities and impairs the ability to talk, eat, drink, pick up objects, and walk. Parkinsonism develops as the disorder progresses and is characterized by tremor (shaking), slowed movements (bradykinesia), rigidity (stiffness), and impaired balance and coordination. Additional symptoms that may be present include abnormal eye movements, reduced facial expressions, irritability, sleeping problems, digestive problems (such as reflux or constipation), and recurrent pneumonia which can be life-threatening. Infantile dystonia-parkinsonism is caused by genetic changes in the SLC6A3 gene and inheritance is autosomal recessive.","Curated_Disease_Description_Source__c":"GARD:0010484","GARD_Synonym__c":"dopamine transporter deficiency syndrome; infantile dystonia parkinsonism; infantile dystonia-parkinsonism; infantile parkinsonism-dystonia; ipd; parkinsonism-dystonia infantile; pkdys","Name":"Parkinsonism-dystonia, infantile","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"DTDS Foundation","Website__c":"https://www.dtdsfoundation.org"},{"Account_Name__c":"Dystonia Society","Website__c":"https://www.dystonia.org.uk/"},{"Account_Name__c":"Dystonia Medical Research Foundation","Website__c":"https://dystonia-foundation.org/"},{"Account_Name__c":"Pediatric Neurotransmitter Disease Association","Website__c":"https://www.pndassoc.org/"},{"Account_Name__c":"International Parkinson and Movement Disorder Society","Website__c":"https://www.movementdisorders.org/"},{"Account_Name__c":"Parkinson & Movement Disorder Alliance","Website__c":"https://www.pmdalliance.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":"Dystonia","Tag_Category__c":"Account","curated_tag_name":"Dystonia"},{"Tag_Name__c":"Parkinsonism","Tag_Category__c":"Account","curated_tag_name":"Parkinsonism"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:238455"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:238455"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C2751067"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010484","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK442323","Source__c":"Gene Review","Xref__c":"NBK442323"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=413468","Source__c":"C2751067","Xref__c":"MEDGEN:413468"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2751067","Source__c":"C2751067","Xref__c":"C2751067"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS613135","Source__c":"MONDO:0013150","Xref__c":"OMIMPS:613135"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567730","Source__c":"MONDO:0013150","Xref__c":"C567730"},{"URL__c":"https://www.orpha.net/en/disease/detail/238455","Source__c":"C2751067; MONDO:0013150; ORPHA:238455","Xref__c":"ORPHA:238455"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013150","Source__c":"GARD:0010484","Xref__c":"MONDO:0013150"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722763000","Source__c":"C2751067","Xref__c":"722763000"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C129866","Source__c":"C2751067","Xref__c":"C129866"},{"URL__c":"https://medlineplus.gov/genetics/condition/dopamine-transporter-deficiency-syndrome"},{"URL__c":"https://medlineplus.gov/genetics/condition/dopamine-transporter-deficiency-syndrome","Source__c":"GARD:0010484","Xref__c":"https://medlineplus.gov/genetics/condition/dopamine-transporter-deficiency-syndrome"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SLC6A3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/slc6a3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"WARS2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:238455","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002375","HPO_Synonym__c":"Decreased muscle movement; Decreased spontaneous movement; Decreased spontaneous movements","HPO_Name__c":"Hypokinesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:238455","HPO_Frequency__c":"Very frequent (80-99%)","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:238455","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"}},{"Provided_By__c":"ORPHA:238455","HPO_Frequency__c":"Frequent (30-79%)","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:238455","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002020","HPO_Synonym__c":"Acid reflux; Acid reflux disease; Gastro-esophageal reflux; Gastroesophageal reflux disease; GERD; GORD; Heartburn","HPO_Name__c":"Gastroesophageal reflux","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:238455","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008936","HPO_Synonym__c":"Low muscle tone in trunk; Muscular hypotonia of the trunk; Truncal hypotonia","HPO_Name__c":"Axial hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:238455","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001332","HPO_Synonym__c":"Dystonic movements","HPO_Name__c":"Dystonia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:238455","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:238455","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Complete lack of development of speech and language abilities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001344","HPO_Synonym__c":"Absent speech development; Lack of language development; Lack of speech; No speech development; No speech or language development; Nonverbal","HPO_Name__c":"Absent speech","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:238455","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any deviation from the normal concentration of a carboxylic acid in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004354","HPO_Name__c":"Abnormal circulating carboxylic acid concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:238455","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:238455","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduced degree of motion of the muscles beneath the skin of the face, often associated with reduced facial crease formation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000338","HPO_Synonym__c":"Dull facial expression; Hypomimia","HPO_Name__c":"Hypomimic face","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:238455","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An acute dystonic reaction with blepharospasm, periorbital twitches, and protracted fixed staring episodes. There may be a maximal upward deviation of the eyes in the sustained fashion. Oculogyric crisis can be triggered by a number of factors including neuroleptic medications.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010553","HPO_Name__c":"Oculogyric crisis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:238455","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:238455","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011968","HPO_Synonym__c":"Decreased oral intake; Feeding difficulties; Feeding problems; Poor feeding","HPO_Name__c":"Feeding difficulties","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:238455","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behavior, by epilepsy, and by secondary musculoskeletal problems.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100021","HPO_Synonym__c":"Cerebral paralysis; CP","HPO_Name__c":"Cerebral palsy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:238455","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001276","HPO_Synonym__c":"Hypertonicity; Increased muscle tone","HPO_Name__c":"Hypertonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:238455","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002310","HPO_Synonym__c":"Orofacial dyskinesias","HPO_Name__c":"Orofacial dyskinesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:238455","HPO_Frequency__c":"Frequent (30-79%)","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:238455","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002509","HPO_Synonym__c":"Appendicular hypertonia; Increased muscle tone of arm or leg","HPO_Name__c":"Limb hypertonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"],"Account":["Dystonia","Parkinsonism"]},"synonyms":["dopamine transporter deficiency syndrome"," infantile dystonia parkinsonism"," infantile dystonia-parkinsonism"," infantile parkinsonism-dystonia"," ipd"," parkinsonism-dystonia infantile"," pkdys"]}