{"Name":"Spastic paraplegia-epilepsy-intellectual disability syndrome","DiseaseID__c":"GARD:0004915","id":4915,"encodedName":"spastic-paraplegia-epilepsy-intellectual-disability-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Spastic paraplegia-epilepsy-intellectual disability syndrome","Xref_IDs__c":"C1866854; C536869; MEDGEN:356631; MONDO:0008439; OMIM:182610","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":1,"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":0,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MEDGEN:C1847501","Disease_Description__c":"GLUT1 deficiency syndrome is a disorder affecting the nervous system that can have a variety of neurological signs and symptoms. Approximately 90 percent of affected individuals have a form of the disorder often referred to as common GLUT1 deficiency syndrome. These individuals generally have frequent seizures (epilepsy) beginning in the first months of life. In newborns, the first sign of the disorder may be involuntary eye movements that are rapid and irregular. Babies with common GLUT1 deficiency syndrome have a normal head size at birth, but growth of the brain and skull is often slow, which can result in an abnormally small head size (microcephaly). People with this form of GLUT1 deficiency syndrome may have developmental delay or intellectual disability. Most affected individuals also have other neurological problems, such as stiffness caused by abnormal tensing of the muscles (spasticity), difficulty in coordinating movements (ataxia), and speech difficulties (dysarthria). Some experience episodes of confusion, lack of energy (lethargy), headaches, or muscle twitches (myoclonus), particularly during periods without food (fasting).About 10 percent of individuals with GLUT1 deficiency syndrome have a form of the disorder often known as non-epileptic GLUT1 deficiency syndrome, which is usually less severe than the common form. People with the non-epileptic form do not have seizures, but they may still have developmental delay and intellectual disability. Most have movement problems such as ataxia or involuntary tensing of various muscles (dystonia); the movement problems may be more pronounced than in the common form.Several conditions that were originally given other names have since been recognized to be variants of GLUT1 deficiency syndrome. These include paroxysmal choreoathetosis with spasticity (dystonia 9); paroxysmal exercise-induced dyskinesia and epilepsy (dystonia 18); and certain types of epilepsy. In rare cases, people with variants of GLUT1 deficiency syndrome produce abnormal red blood cells and have uncommon forms of a blood condition known as anemia, which is characterized by a shortage of red blood cells.","GARD_Name__c":"Spastic paraplegia-epilepsy-intellectual disability syndrome","GARD_Synonym__c":"spastic paraplegia, epilepsy, and impaired intellectual development; spemr","Curated_Disease_Description_Source__c":"MEDGEN:C1847501","Curated_Disease_Description__c":"This rare neurological disease affects the brain and nervous system and is linked to problems in how the body transports a substance called glucose into the brain. Most people with this disease have a form often called common GLUT1 deficiency. Babies with GLUT1 deficiency usually begin to have frequent seizures in the first months of life, and some newborns show fast, irregular eye movements. Babies typically have a normal head size at birth, but the brain and skull grow more slowly than expected, which can lead to a small head size (microcephaly, meaning a smaller head than usual). Many people have developmental delay or intellectual disability, as well as other nervous system problems such as stiff muscles, poor balance and coordination, and trouble with speech. Some have episodes of confusion, very low energy, headaches, or brief muscle jerks, especially when they have not eaten recently enough. A smaller group of people with this disease do not have seizures but still have learning, thinking, or movement problems, and some may also have unusual red blood cells and a rare type of anemia (a low number of healthy red blood cells).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008439","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"This rare neurological disease affects the brain and nervous system and is linked to problems in how the body transports a substance called glucose into the brain. Most people with this disease have a form often called common GLUT1 deficiency. Babies with GLUT1 deficiency usually begin to have frequent seizures in the first months of life, and some newborns show fast, irregular eye movements. Babies typically have a normal head size at birth, but the brain and skull grow more slowly than expected, which can lead to a small head size (microcephaly, meaning a smaller head than usual). Many people have developmental delay or intellectual disability, as well as other nervous system problems such as stiff muscles, poor balance and coordination, and trouble with speech. Some have episodes of confusion, very low energy, headaches, or brief muscle jerks, especially when they have not eaten recently enough. A smaller group of people with this disease do not have seizures but still have learning, thinking, or movement problems, and some may also have unusual red blood cells and a rare type of anemia (a low number of healthy red blood cells).","Curated_Disease_Description_Source__c":"MEDGEN:C1847501","GARD_Synonym__c":"spastic paraplegia, epilepsy, and impaired intellectual development; spemr","Name":"Spastic paraplegia-epilepsy-intellectual disability syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Spastic Paraplegia Foundation","Website__c":"https://sp-foundation.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1847501"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1430","Source__c":"Gene Review","Xref__c":"NBK1430"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536869","Source__c":"MONDO:0008439","Xref__c":"C536869"},{"URL__c":"https://www.omim.org/entry/182610","Source__c":"C1866854; MONDO:0008439","Xref__c":"OMIM:182610"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1866854","Source__c":"C1866854","Xref__c":"C1866854"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=356631","Source__c":"C1866854","Xref__c":"MEDGEN:356631"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008439","Source__c":"GARD:0004915","Xref__c":"MONDO:0008439"}],"Inheritance__c":["Autosomal dominant"],"tags":{"Specialist":["Neuromuscular medicine"]},"synonyms":["spastic paraplegia, epilepsy, and impaired intellectual development"," spemr"]}