{"frequencyBands":{"HP:0040280":[100,100],"HP:0040281":[80,99],"HP:0040282":[30,79],"HP:0040283":[5,29],"HP:0040284":[1,4],"HP:0040285":[0,0]},"page":{"columns":[{"gene":"","key":"MONDO:0011663/OMIM:606353","label":"Primary lateral sclerosis, juvenile","mondoId":"MONDO:0011663","onsetQualifier":null,"recordKeys":["05bf3ee871e9a3d6eadbc22a160fed56eaf1d81b45c7d902b21a61dbf9511992","0fda836218c883a71aa46e12ea014634af26b2ae2403c10a737cbd823dd75108","1264c80f4a797c599af7ce11103fd14c9def6139baf2817d002b0d68ac0a4847","16c8fb49042cd07b41a5661f6900369749e0bfc410398fa9a7a88831e17ffccd","310dbf07878d53223c80096b243b7a3a85c0a6137699712872164a7333678671","3a6762e0a34b70abdebe11ef88e8b9b66c77a3e6879c6f87de0279e81f4b29c9","41cb620169f2140d172abe76926f1ff501e676205cb4496804c957acffa33817","567e07abee4919b5183dbe6457682beee66d01da2f1cd6cd5c9f47dbe1f90545","6679a933f8ef7daeb00d8e537da33621326c6c9b7f4736385172969705be0963","689b9f61fc9b7981e090f719929c7d81a2965089f12b113031c9f4d5d667f55e","7b412cd554de3370b6a4d4e26a40f50734831411fae9063a63a24674fc2e8cbe","8c44a1cc98f9bde1457ecc00ae3236a4e5b58ba7cece96694492cd68bd31904f","a11308769581665a351df6e546e14e2921cc91ec9f0b2d6ff043b8eaded58e32","a706501728f05225aa5e9fab3bbcba829bea671a89133c8c9161ec95f8ec3d18","ac2a0a1eaab2beda242addcbe9475ca9810163af9fa779061b3f2906d9a24fe4","c390b30dcbf10a3c447a4ad91f96b36283bfaef427fed7702425f40ba22aa240","d2a72010af6b69c3ff69885ab1360398f0b8e85f2c0e80751d906aacb0e82d1f","e7e3b47c75da9cce1b168509a44f16643a4329c2750aced470c8f497f7a30b04","fd97a4c72a2e418586a601d634b8ed0b5081c43b3f6e7ec5af490b3c227fbfc9"],"recordQualifiers":{},"scopeLabel":"OMIM:606353","sourceIds":["OMIM:606353"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0011663/ORPHA:247604","label":"Juvenile primary lateral sclerosis","mondoId":"MONDO:0011663","onsetQualifier":null,"recordKeys":["00967fc970162670728993b2f1370b167ee2c732132f9137f9813bdd7d8509f4","01c36751d8eb547bb34fe38d887477c89095a1252d22ba7d1f473bb65cca1230","12d5dde68cb66e9c0f2ba7146914501ccc214c58a717bf77551ae7d420c29f5c","2344b224142ee31a8bdd39a662dd088d282e05a51bcfcda927d4f326dba73da0","46ddba3e29de75a0c14dd47a69093b6a3a580509445656e1c3c10ecafa85a32c","6135151d215afaf8f1b70d15f7963ebb1df2cf0feb4d2dc25feb4fc9a255a632","6f6e1cc073ed28c1af27017f3a3d061c5d203eb1d16023a7a1f4da9fff92658d","7d8005024f2d9b35abaaa234f8c712dbe3bc445b283a6c9642f16092f023f447","87456a847e51cd99f778eb9b87a78678fb63f9742513152b866e0f15b2fb2f71","c378daae246ef6c74deb9ad7e6c17fc9ac252ada0288145b71a494d3a3b796f1","c4d0949552753b7b373d1d689926af123dd3f9d78515bcaec56d893eb50202f6","c5b8e3642753426aa56fffb32f9de6acbb11aa73ecfac5f268d72c57d5946fd2","d4669874d6d5da513a0e226367438da62bf45f349f609f09854d5e9ff7d6af6c","ecd008cedbaefdc60ec422ac0fbd3811e914a07e681d8c8108f263eada0e52cf","fec75fc83f92608e59cf5c0daa18f9d30f92a39197473f1abd6c9b05fd07463f"],"recordQualifiers":{},"scopeLabel":"ORPHA:247604","sourceIds":["ORPHA:247604"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."}],"comparison":{"collapseColumnsLabel":"Show initial comparisons","defaultColumnKeys":["MONDO:0011663/OMIM:606353","MONDO:0011663/ORPHA:247604"],"expandColumnsLabel":"Compare all source entries","intro":"Compare the original source entries. Different entries may describe different patient groups.","primaryFeatureIds":[],"scopeNoteHtml":"<p>Each column keeps its native condition scope. Initial features are displayed alphabetically, not ranked by clinical importance. Counts remain separate, and an empty cell does not mean a feature cannot occur.</p>"},"coverage":{"countRecords":7,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":34,"sourceGroups":{"omim":12,"orphanet":15,"published":7}},"features":[{"hpoId":"HP:0007256","label":"Abnormal pyramidal sign","primary":false},{"hpoId":"HP:0002127","label":"Abnormal upper motor neuron morphology","primary":false},{"hpoId":"HP:0000014","label":"Abnormality of the bladder","primary":false},{"hpoId":"HP:0034353","label":"Appendicular spasticity","primary":false},{"hpoId":"HP:0003487","label":"Babinski sign","primary":false},{"hpoId":"HP:0002120","label":"Cerebral cortical atrophy","primary":false},{"hpoId":"HP:0033383","label":"Decreased compound muscle action potential amplitude","primary":false},{"hpoId":"HP:0002015","label":"Dysphagia","primary":false},{"hpoId":"HP:0002141","label":"Gait imbalance","primary":false},{"hpoId":"HP:0001347","label":"Hyperreflexia","primary":false},{"hpoId":"HP:0002505","label":"Loss of ambulation","primary":false},{"hpoId":"HP:0002371","label":"Loss of speech","primary":false},{"hpoId":"HP:0001324","label":"Muscle weakness","primary":false},{"hpoId":"HP:0000980","label":"Pallor","primary":false},{"hpoId":"HP:0002193","label":"Pseudobulbar affect","primary":false},{"hpoId":"HP:0007024","label":"Pseudobulbar paralysis","primary":false},{"hpoId":"HP:0001152","label":"Saccadic smooth pursuit interruptions","primary":false},{"hpoId":"HP:0000763","label":"Sensory neuropathy","primary":false},{"hpoId":"HP:0003202","label":"Skeletal muscle atrophy","primary":false},{"hpoId":"HP:0002464","label":"Spastic dysarthria","primary":false},{"hpoId":"HP:0002064","label":"Spastic gait","primary":false},{"hpoId":"HP:0001285","label":"Spastic tetraparesis","primary":false},{"hpoId":"HP:0001257","label":"Spasticity","primary":false},{"hpoId":"HP:0002491","label":"Spasticity of facial muscles","primary":false},{"hpoId":"HP:0002501","label":"Spasticity of pharyngeal muscles","primary":false},{"hpoId":"HP:0000183","label":"Tongue muscle weakness","primary":false},{"hpoId":"HP:0025747","label":"Tongue spasticity","primary":false}],"ledeHtml":"Juvenile primary lateral sclerosis is a rare disorder characterized by progressive weakness and tightness (spasticity) of muscles in the arms, legs, and face. The features of this disorder are caused by damage to motor neurons, which are specialized nerve cells in the brain and spinal cord that control muscle movement.","mondoId":"MONDO:0011663","records":[{"frequencyKind":"range","key":"00967fc970162670728993b2f1370b167ee2c732132f9137f9813bdd7d8509f4","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:247604","disease_name":"Juvenile primary lateral sclerosis","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000014","is_excluded":false,"label":"Abnormality of the bladder","onset_id":null,"reference":"ORPHA:247604","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"01c36751d8eb547bb34fe38d887477c89095a1252d22ba7d1f473bb65cca1230","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:247604","disease_name":"Juvenile primary lateral sclerosis","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002127","is_excluded":false,"label":"Abnormal upper motor neuron morphology","onset_id":null,"reference":"ORPHA:247604","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"05bf3ee871e9a3d6eadbc22a160fed56eaf1d81b45c7d902b21a61dbf9511992","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:606353","disease_name":"Primary lateral sclerosis, juvenile","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002491","is_excluded":false,"label":"Spasticity of facial muscles","onset_id":null,"reference":"OMIM:606353","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"0fda836218c883a71aa46e12ea014634af26b2ae2403c10a737cbd823dd75108","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:606353","disease_name":"Primary lateral sclerosis, juvenile","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002464","is_excluded":false,"label":"Spastic dysarthria","onset_id":null,"reference":"OMIM:606353","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"1264c80f4a797c599af7ce11103fd14c9def6139baf2817d002b0d68ac0a4847","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:606353","disease_name":"Primary lateral sclerosis, juvenile","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0007024","is_excluded":false,"label":"Pseudobulbar paralysis","onset_id":null,"reference":"PMID:19122027","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"12d5dde68cb66e9c0f2ba7146914501ccc214c58a717bf77551ae7d420c29f5c","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:247604","disease_name":"Juvenile primary lateral sclerosis","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002193","is_excluded":false,"label":"Pseudobulbar affect","onset_id":null,"reference":"ORPHA:247604","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"16c8fb49042cd07b41a5661f6900369749e0bfc410398fa9a7a88831e17ffccd","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:606353","disease_name":"Primary lateral sclerosis, juvenile","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002120","is_excluded":false,"label":"Cerebral cortical atrophy","onset_id":null,"reference":"OMIM:606353","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"2344b224142ee31a8bdd39a662dd088d282e05a51bcfcda927d4f326dba73da0","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:247604","disease_name":"Juvenile primary lateral sclerosis","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001285","is_excluded":false,"label":"Spastic tetraparesis","onset_id":null,"reference":"ORPHA:247604","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"310dbf07878d53223c80096b243b7a3a85c0a6137699712872164a7333678671","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:606353","disease_name":"Primary lateral sclerosis, juvenile","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0001347","is_excluded":false,"label":"Hyperreflexia","onset_id":null,"reference":"PMID:19122027","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"3a6762e0a34b70abdebe11ef88e8b9b66c77a3e6879c6f87de0279e81f4b29c9","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:606353","disease_name":"Primary lateral sclerosis, juvenile","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002064","is_excluded":false,"label":"Spastic gait","onset_id":null,"reference":"OMIM:606353","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"41cb620169f2140d172abe76926f1ff501e676205cb4496804c957acffa33817","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:606353","disease_name":"Primary lateral sclerosis, juvenile","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002193","is_excluded":false,"label":"Pseudobulbar affect","onset_id":null,"reference":"OMIM:606353","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"46ddba3e29de75a0c14dd47a69093b6a3a580509445656e1c3c10ecafa85a32c","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:247604","disease_name":"Juvenile primary lateral sclerosis","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000763","is_excluded":false,"label":"Sensory neuropathy","onset_id":null,"reference":"ORPHA:247604","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"567e07abee4919b5183dbe6457682beee66d01da2f1cd6cd5c9f47dbe1f90545","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:606353","disease_name":"Primary lateral sclerosis, juvenile","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002127","is_excluded":false,"label":"Abnormal upper motor neuron morphology","onset_id":null,"reference":"OMIM:606353","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"6135151d215afaf8f1b70d15f7963ebb1df2cf0feb4d2dc25feb4fc9a255a632","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:247604","disease_name":"Juvenile primary lateral sclerosis","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0003202","is_excluded":false,"label":"Skeletal muscle atrophy","onset_id":null,"reference":"ORPHA:247604","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"6679a933f8ef7daeb00d8e537da33621326c6c9b7f4736385172969705be0963","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:606353","disease_name":"Primary lateral sclerosis, juvenile","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002501","is_excluded":false,"label":"Spasticity of pharyngeal muscles","onset_id":null,"reference":"OMIM:606353","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"689b9f61fc9b7981e090f719929c7d81a2965089f12b113031c9f4d5d667f55e","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:606353","disease_name":"Primary lateral sclerosis, juvenile","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0034353","is_excluded":false,"label":"Appendicular spasticity","onset_id":null,"reference":"PMID:19122027","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"6f6e1cc073ed28c1af27017f3a3d061c5d203eb1d16023a7a1f4da9fff92658d","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:247604","disease_name":"Juvenile primary lateral sclerosis","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0007256","is_excluded":false,"label":"Abnormal pyramidal sign","onset_id":null,"reference":"ORPHA:247604","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"7b412cd554de3370b6a4d4e26a40f50734831411fae9063a63a24674fc2e8cbe","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:606353","disease_name":"Primary lateral sclerosis, juvenile","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0003487","is_excluded":false,"label":"Babinski sign","onset_id":null,"reference":"PMID:19122027","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"7d8005024f2d9b35abaaa234f8c712dbe3bc445b283a6c9642f16092f023f447","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:247604","disease_name":"Juvenile primary lateral sclerosis","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001257","is_excluded":false,"label":"Spasticity","onset_id":null,"reference":"ORPHA:247604","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"87456a847e51cd99f778eb9b87a78678fb63f9742513152b866e0f15b2fb2f71","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:247604","disease_name":"Juvenile primary lateral sclerosis","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002371","is_excluded":false,"label":"Loss of speech","onset_id":null,"reference":"ORPHA:247604","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"8c44a1cc98f9bde1457ecc00ae3236a4e5b58ba7cece96694492cd68bd31904f","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:606353","disease_name":"Primary lateral sclerosis, juvenile","evidence":"PCS","frequency_raw":"2/3","hpo_id":"HP:0002505","is_excluded":false,"label":"Loss of ambulation","onset_id":null,"reference":"PMID:19122027","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"a11308769581665a351df6e546e14e2921cc91ec9f0b2d6ff043b8eaded58e32","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:606353","disease_name":"Primary lateral sclerosis, juvenile","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000980","is_excluded":false,"label":"Pallor","onset_id":null,"reference":"OMIM:606353","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"a706501728f05225aa5e9fab3bbcba829bea671a89133c8c9161ec95f8ec3d18","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:606353","disease_name":"Primary lateral sclerosis, juvenile","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002015","is_excluded":false,"label":"Dysphagia","onset_id":null,"reference":"OMIM:606353","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"ac2a0a1eaab2beda242addcbe9475ca9810163af9fa779061b3f2906d9a24fe4","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:606353","disease_name":"Primary lateral sclerosis, juvenile","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0025747","is_excluded":false,"label":"Tongue spasticity","onset_id":null,"reference":"OMIM:606353","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"c378daae246ef6c74deb9ad7e6c17fc9ac252ada0288145b71a494d3a3b796f1","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:247604","disease_name":"Juvenile primary lateral sclerosis","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002141","is_excluded":false,"label":"Gait imbalance","onset_id":null,"reference":"ORPHA:247604","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"c390b30dcbf10a3c447a4ad91f96b36283bfaef427fed7702425f40ba22aa240","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:606353","disease_name":"Primary lateral sclerosis, juvenile","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0001285","is_excluded":false,"label":"Spastic tetraparesis","onset_id":null,"reference":"PMID:19122027","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"c4d0949552753b7b373d1d689926af123dd3f9d78515bcaec56d893eb50202f6","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:247604","disease_name":"Juvenile primary lateral sclerosis","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001324","is_excluded":false,"label":"Muscle weakness","onset_id":null,"reference":"ORPHA:247604","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c5b8e3642753426aa56fffb32f9de6acbb11aa73ecfac5f268d72c57d5946fd2","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:247604","disease_name":"Juvenile primary lateral sclerosis","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002064","is_excluded":false,"label":"Spastic gait","onset_id":null,"reference":"ORPHA:247604","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"d2a72010af6b69c3ff69885ab1360398f0b8e85f2c0e80751d906aacb0e82d1f","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:606353","disease_name":"Primary lateral sclerosis, juvenile","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001152","is_excluded":false,"label":"Saccadic smooth pursuit interruptions","onset_id":null,"reference":"OMIM:606353","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"d4669874d6d5da513a0e226367438da62bf45f349f609f09854d5e9ff7d6af6c","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:247604","disease_name":"Juvenile primary lateral sclerosis","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002464","is_excluded":false,"label":"Spastic dysarthria","onset_id":null,"reference":"ORPHA:247604","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"e7e3b47c75da9cce1b168509a44f16643a4329c2750aced470c8f497f7a30b04","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:606353","disease_name":"Primary lateral sclerosis, juvenile","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000183","is_excluded":false,"label":"Tongue muscle weakness","onset_id":null,"reference":"OMIM:606353","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"ecd008cedbaefdc60ec422ac0fbd3811e914a07e681d8c8108f263eada0e52cf","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:247604","disease_name":"Juvenile primary lateral sclerosis","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002015","is_excluded":false,"label":"Dysphagia","onset_id":null,"reference":"ORPHA:247604","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"fd97a4c72a2e418586a601d634b8ed0b5081c43b3f6e7ec5af490b3c227fbfc9","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:606353","disease_name":"Primary lateral sclerosis, juvenile","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0033383","is_excluded":false,"label":"Decreased compound muscle action potential amplitude","onset_id":null,"reference":"PMID:19122027","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"fec75fc83f92608e59cf5c0daa18f9d30f92a39197473f1abd6c9b05fd07463f","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:247604","disease_name":"Juvenile primary lateral sclerosis","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001347","is_excluded":false,"label":"Hyperreflexia","onset_id":null,"reference":"ORPHA:247604","source_release":"2026-06-23"},"sourceGroups":["orphanet"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/juvenile-primary-lateral-sclerosis\">Juvenile primary lateral sclerosis</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in the ALS2 gene cause most cases of juvenile primary lateral sclerosis. This gene provides instructions for making a protein called alsin. Alsin is abundant in motor neurons, but its function is not fully understood. Mutations in the ALS2 gene alter the instructions for producing alsin. As a result, alsin is unstable and is quickly broken down, or it cannot function properly. It is unclear how the loss of functional alsin protein damages motor neurons and causes juvenile primary lateral sclerosis.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/juvenile-primary-lateral-sclerosis/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Juvenile primary lateral sclerosis?"},{"bodyHtml":"<p>Symptoms of juvenile primary lateral sclerosis begin in early childhood and progress slowly over many years. Early symptoms include clumsiness, muscle weakness and spasticity in the legs, and difficulty with balance. As symptoms progress, the spasticity spreads to the arms and hands and individuals develop slurred speech, drooling, difficulty swallowing, and an inability to walk.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/juvenile-primary-lateral-sclerosis\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"juvenile-primary-lateral-sclerosis","sourceDocuments":[{"name":"Juvenile primary lateral sclerosis","reviewed":"2007-05","sections":{"causes":{"fetchedAt":"2026-10-20T20:22:38.211172+00:00","label":"Causes","pageSha256":"60d23f8711369c9e65d178d3a9a97efd851207fcf6f6bdf24fecbc72b74d9116","sourceUrl":"https://medlineplus.gov/genetics/condition/juvenile-primary-lateral-sclerosis/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/juvenile-primary-lateral-sclerosis"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Juvenile primary lateral sclerosis"},"schemaVersion":1}