{"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:0011339/OMIM:603563","label":"Spastic paraplegia 8, autosomal dominant","mondoId":"MONDO:0011339","onsetQualifier":null,"recordKeys":["17a2809da366341a4de0c156788cc9d88a77ad1907eb407948a13b35f28b8f77","1f6d6ef8a6f8d547bb9fc6ef25523b7a3fc0732dc07101799799681dff3d79b0","2b97acdf6e2b8030af18ce820d2be028fe6f40cb7111f1ff4c56812870f3caf2","3ce4b0c0d7c52cbbc898567ad24248a377993d9ebd0530a9cc44b0a2cd18f6de","4a4b9880b2e3b7645c8b5e5e8f855333281a675fc96e2f80aaaa343126916b1b","51b2e2a091e151e7f92ee1d9c02be9c996e8e98f5304d2422b97a05ba026ddfb","55cdaf2496df1a6c5dc2a44eb3c7d273a18a718e6e6e8a96810b5e78fab7fd13","67df2755bfc1fe6cebe2bd30b7d0f21f3278caf1561d4211b09042c949d833ba","73f0b79ebd31894b2f68379abbe71746340bfab8fcdb77b251d00b2a807ec20c","7f2585272bf703ca577bdf7ce40eff88e8da525dfe4098dd6c9920e0fedf9764","8d34abc1e566edc2ac5b3e4d9ad8936bf8e43bb84c61eaea2d241aaf50503d95","8de16f1ae720e7ec9bdf79058f8e085bc057924e14ea1f706dbd0e2c6860df73","94caa254fce75a8981e3333b9fc395b49a9e2cdff7c9026865ab545bb67787f7","a0a1f1150242098df08a953d7e80a7d2ceee9dd08517ac5ed286f7cd6625987d","a6b2a5324e7279bc9cab65dd3ac4d6e17cf92bc7a8390f3139d75c8cb3f28ce3","d02f0b946d6e8103f887abd82aca93c009f4a148a896563475986788acb0950b","e396c616d4173a05bb9bb3bf93fc754a9caa33660f79e76034e365d6d72617a8","f9f7b3445bd22f63ef6f0975d1e4db45ffa060a0322125d29fb281284c9b491b"],"recordQualifiers":{},"scopeLabel":"OMIM:603563","sourceIds":["OMIM:603563"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0011339/ORPHA:100989","label":"Autosomal dominant spastic paraplegia type 8","mondoId":"MONDO:0011339","onsetQualifier":null,"recordKeys":["1f93f5ae9b289730085c3a55817447e8c9832a80b6e27e02c59d0e63561a5d73","21ea6b518ca2f8a11a60537b281fedfec07ffa46d4b94682c38375c045df6ba0","29662264cb02c3a8d41768b4ef9e7ac130cd21b7a78ee76f702dffe4f25b2783","36beb2ed40759d443b1573ea92ebfb5eb196a5b1d247aa56dbd52658327820f8","38fee5086a51862e411a79002056754bd99a744ea7878f74754378fe2ef0c9b1","5b0eaec5b8542617edcffdf96cda33d74221690dccd15c93d46fd55435d61dec","635afffc41912e5928e3041ffe7f6ef473b99769197876ebb510376563e72540","6fc62db59525e5cf8d16992c0a5fa14ac4cf8d38ce4f7f7c2d0491048f0400e6","73f85f3b9f2c12a44c593f00189d0c69b478816911b070d673c96ae91236d534","77fa7fd028ae90a3f5a5890f73c7a65ed002ebff2a904ffb89464322c16a5e64","7b111d45c9a4c79d5336fa58aca8c3c8b397b19c4a40255d72ad62a48bbdd8da","7bd7aba0cadf0c67d5d216993d4ae9d90eb93d0efabe0cbd4319c0f0b2cf5d02","921630a61a2446c399befaddbbbf50397d2d99a3cad17dd1213d17143b0dbb69","b1af69738736fd8e8d644927ac8eea5e699fd9f965d244e9e9ddba732caac5c6","c063600444665225e40a74fd5b2aa71c79bde90a76491dfbd7d4e842fd35e964","cd92a9d6068a8fa8fe40a9dd8335fe2db7f2180b5960d692fa99b34a66c9e5e0","df9f858ea4de2270d1d7d8d042eda36f84b57d08ace33303e8d7399bb5a0fdf9","e0ed260cca7988fba6140c84c2290e83741fd6c8e50f89f6eba393e7c765e060","e21fd49c400ea16b40c0301e41eb4642689fb8d52ecefe45f89a84aa93df8638","f3ae19cbee4c3ed82dc865acb71f1bbb51ae5bb0a4368fee7294cb002b3553a2","f57ac0fa5813c27545899cc7a9aa94a6d7a768919b73fbfb511b496b8e9017f4","ffae3f39c1a62d3ae99c48be27d0f4d02600e93ff4020278f845a8bbb2cd3b5c"],"recordQualifiers":{},"scopeLabel":"ORPHA:100989","sourceIds":["ORPHA:100989"],"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:0011339/OMIM:603563","MONDO:0011339/ORPHA:100989"],"expandColumnsLabel":"Compare all source entries","intro":"Compare the original source entries. Different entries may describe different patient groups.","primaryFeatureIds":[],"scopeNoteHtml":"

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.

"},"coverage":{"countRecords":12,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":40,"sourceGroups":{"omim":5,"orphanet":22,"published":13}},"features":[{"hpoId":"HP:0002921","label":"Abnormal cerebrospinal fluid morphology","primary":false},{"hpoId":"HP:0012898","label":"Abnormal lower-limb motor evoked potentials","primary":false},{"hpoId":"HP:0003487","label":"Babinski sign","primary":false},{"hpoId":"HP:0002169","label":"Clonus","primary":false},{"hpoId":"HP:0002314","label":"Degeneration of the lateral corticospinal tracts","primary":false},{"hpoId":"HP:0001260","label":"Dysarthria","primary":false},{"hpoId":"HP:0002015","label":"Dysphagia","primary":false},{"hpoId":"HP:0003457","label":"EMG abnormality","primary":false},{"hpoId":"HP:0001288","label":"Gait disturbance","primary":false},{"hpoId":"HP:0001347","label":"Hyperreflexia","primary":false},{"hpoId":"HP:0002166","label":"Impaired vibration sensation in the lower limbs","primary":false},{"hpoId":"HP:0002070","label":"Limb ataxia","primary":false},{"hpoId":"HP:0002406","label":"Limb dysmetria","primary":false},{"hpoId":"HP:0003419","label":"Low back pain","primary":false},{"hpoId":"HP:0002395","label":"Lower limb hyperreflexia","primary":false},{"hpoId":"HP:0007340","label":"Lower limb muscle weakness","primary":false},{"hpoId":"HP:0002061","label":"Lower limb spasticity","primary":false},{"hpoId":"HP:0003394","label":"Muscle spasm","primary":false},{"hpoId":"HP:0009049","label":"Peroneal muscle atrophy","primary":false},{"hpoId":"HP:0001761","label":"Pes cavus","primary":false},{"hpoId":"HP:0007020","label":"Progressive spastic paraplegia","primary":false},{"hpoId":"HP:0002064","label":"Spastic gait","primary":false},{"hpoId":"HP:0001258","label":"Spastic paraplegia","primary":false},{"hpoId":"HP:0100561","label":"Spinal cord lesion","primary":false},{"hpoId":"HP:0007350","label":"Upper limb hyperreflexia","primary":false},{"hpoId":"HP:0006986","label":"Upper limb spasticity","primary":false},{"hpoId":"HP:0002839","label":"Urinary bladder sphincter dysfunction","primary":false},{"hpoId":"HP:0000020","label":"Urinary incontinence","primary":false},{"hpoId":"HP:0000012","label":"Urinary urgency","primary":false}],"ledeHtml":"Spastic paraplegia type 8 belongs to a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and weakness. Hereditary spastic paraplegias are divided into two types: pure and complex. The pure (also called uncomplicated) types involve only the nerves and muscles that control the legs and bladder, whereas the complex (also called complicated) types also involve the nervous system in other parts of the body. Spastic paraplegia type 8 is a pure hereditary spastic paraplegia.","mondoId":"MONDO:0011339","records":[{"frequencyKind":"count","key":"17a2809da366341a4de0c156788cc9d88a77ad1907eb407948a13b35f28b8f77","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:603563","disease_name":"Spastic paraplegia 8, autosomal dominant","evidence":"PCS","frequency_raw":"10/10","hpo_id":"HP:0002395","is_excluded":false,"label":"Lower limb hyperreflexia","onset_id":null,"reference":"PMID:23455931","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"1f6d6ef8a6f8d547bb9fc6ef25523b7a3fc0732dc07101799799681dff3d79b0","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:603563","disease_name":"Spastic paraplegia 8, autosomal dominant","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001347","is_excluded":false,"label":"Hyperreflexia","onset_id":null,"reference":"OMIM:603563","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"1f93f5ae9b289730085c3a55817447e8c9832a80b6e27e02c59d0e63561a5d73","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:100989","disease_name":"Autosomal dominant spastic paraplegia type 8","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0007020","is_excluded":false,"label":"Progressive spastic paraplegia","onset_id":null,"reference":"ORPHA:100989","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"21ea6b518ca2f8a11a60537b281fedfec07ffa46d4b94682c38375c045df6ba0","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:100989","disease_name":"Autosomal dominant spastic paraplegia type 8","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002406","is_excluded":false,"label":"Limb dysmetria","onset_id":null,"reference":"ORPHA:100989","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"29662264cb02c3a8d41768b4ef9e7ac130cd21b7a78ee76f702dffe4f25b2783","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:100989","disease_name":"Autosomal dominant spastic paraplegia type 8","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0012898","is_excluded":true,"label":"Abnormal lower-limb motor evoked potentials","onset_id":null,"reference":"ORPHA:100989","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"2b97acdf6e2b8030af18ce820d2be028fe6f40cb7111f1ff4c56812870f3caf2","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:603563","disease_name":"Spastic paraplegia 8, autosomal dominant","evidence":"PCS","frequency_raw":"8/10","hpo_id":"HP:0000012","is_excluded":false,"label":"Urinary urgency","onset_id":null,"reference":"PMID:23455931","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"36beb2ed40759d443b1573ea92ebfb5eb196a5b1d247aa56dbd52658327820f8","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:100989","disease_name":"Autosomal dominant spastic paraplegia type 8","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000012","is_excluded":false,"label":"Urinary urgency","onset_id":null,"reference":"ORPHA:100989","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"38fee5086a51862e411a79002056754bd99a744ea7878f74754378fe2ef0c9b1","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:100989","disease_name":"Autosomal dominant spastic paraplegia type 8","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002921","is_excluded":true,"label":"Abnormal cerebrospinal fluid morphology","onset_id":null,"reference":"ORPHA:100989","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"3ce4b0c0d7c52cbbc898567ad24248a377993d9ebd0530a9cc44b0a2cd18f6de","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:603563","disease_name":"Spastic paraplegia 8, autosomal dominant","evidence":"PCS","frequency_raw":"10/10","hpo_id":"HP:0003487","is_excluded":false,"label":"Babinski sign","onset_id":null,"reference":"PMID:23455931","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"4a4b9880b2e3b7645c8b5e5e8f855333281a675fc96e2f80aaaa343126916b1b","raw":{"aspect":"P","body_system":"other","disease_id":"OMIM:603563","disease_name":"Spastic paraplegia 8, autosomal dominant","evidence":"PCS","frequency_raw":"4/10","hpo_id":"HP:0003419","is_excluded":false,"label":"Low back pain","onset_id":null,"reference":"PMID:23455931","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"51b2e2a091e151e7f92ee1d9c02be9c996e8e98f5304d2422b97a05ba026ddfb","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:603563","disease_name":"Spastic paraplegia 8, autosomal dominant","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002314","is_excluded":false,"label":"Degeneration of the lateral corticospinal tracts","onset_id":null,"reference":"OMIM:603563","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"55cdaf2496df1a6c5dc2a44eb3c7d273a18a718e6e6e8a96810b5e78fab7fd13","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:603563","disease_name":"Spastic paraplegia 8, autosomal dominant","evidence":"PCS","frequency_raw":"8/10","hpo_id":"HP:0007350","is_excluded":false,"label":"Upper limb hyperreflexia","onset_id":null,"reference":"PMID:23455931","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"5b0eaec5b8542617edcffdf96cda33d74221690dccd15c93d46fd55435d61dec","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:100989","disease_name":"Autosomal dominant spastic paraplegia type 8","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0006986","is_excluded":false,"label":"Upper limb spasticity","onset_id":null,"reference":"ORPHA:100989","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"635afffc41912e5928e3041ffe7f6ef473b99769197876ebb510376563e72540","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:100989","disease_name":"Autosomal dominant spastic paraplegia type 8","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002070","is_excluded":false,"label":"Limb ataxia","onset_id":null,"reference":"ORPHA:100989","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"67df2755bfc1fe6cebe2bd30b7d0f21f3278caf1561d4211b09042c949d833ba","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:603563","disease_name":"Spastic paraplegia 8, autosomal dominant","evidence":"PCS","frequency_raw":"10/10","hpo_id":"HP:0001258","is_excluded":false,"label":"Spastic paraplegia","onset_id":null,"reference":"PMID:23455931","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"6fc62db59525e5cf8d16992c0a5fa14ac4cf8d38ce4f7f7c2d0491048f0400e6","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:100989","disease_name":"Autosomal dominant spastic paraplegia type 8","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0003394","is_excluded":false,"label":"Muscle spasm","onset_id":null,"reference":"ORPHA:100989","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"73f0b79ebd31894b2f68379abbe71746340bfab8fcdb77b251d00b2a807ec20c","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:603563","disease_name":"Spastic paraplegia 8, autosomal dominant","evidence":"PCS","frequency_raw":"4/10","hpo_id":"HP:0002015","is_excluded":false,"label":"Dysphagia","onset_id":null,"reference":"PMID:23455931","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"73f85f3b9f2c12a44c593f00189d0c69b478816911b070d673c96ae91236d534","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:100989","disease_name":"Autosomal dominant spastic paraplegia type 8","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0100561","is_excluded":false,"label":"Spinal cord lesion","onset_id":null,"reference":"ORPHA:100989","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"77fa7fd028ae90a3f5a5890f73c7a65ed002ebff2a904ffb89464322c16a5e64","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:100989","disease_name":"Autosomal dominant spastic paraplegia type 8","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002061","is_excluded":false,"label":"Lower limb spasticity","onset_id":null,"reference":"ORPHA:100989","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"7b111d45c9a4c79d5336fa58aca8c3c8b397b19c4a40255d72ad62a48bbdd8da","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:100989","disease_name":"Autosomal dominant spastic paraplegia type 8","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0003457","is_excluded":true,"label":"EMG abnormality","onset_id":null,"reference":"ORPHA:100989","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"7bd7aba0cadf0c67d5d216993d4ae9d90eb93d0efabe0cbd4319c0f0b2cf5d02","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:100989","disease_name":"Autosomal dominant spastic paraplegia type 8","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002314","is_excluded":false,"label":"Degeneration of the lateral corticospinal tracts","onset_id":null,"reference":"ORPHA:100989","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"7f2585272bf703ca577bdf7ce40eff88e8da525dfe4098dd6c9920e0fedf9764","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:603563","disease_name":"Spastic paraplegia 8, autosomal dominant","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0006986","is_excluded":false,"label":"Upper limb spasticity","onset_id":null,"reference":"OMIM:603563","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"8d34abc1e566edc2ac5b3e4d9ad8936bf8e43bb84c61eaea2d241aaf50503d95","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:603563","disease_name":"Spastic paraplegia 8, autosomal dominant","evidence":"PCS","frequency_raw":"8/10","hpo_id":"HP:0007340","is_excluded":false,"label":"Lower limb muscle weakness","onset_id":null,"reference":"PMID:23455931","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"8de16f1ae720e7ec9bdf79058f8e085bc057924e14ea1f706dbd0e2c6860df73","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:603563","disease_name":"Spastic paraplegia 8, autosomal dominant","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002839","is_excluded":false,"label":"Urinary bladder sphincter dysfunction","onset_id":null,"reference":"OMIM:603563","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"921630a61a2446c399befaddbbbf50397d2d99a3cad17dd1213d17143b0dbb69","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:100989","disease_name":"Autosomal dominant spastic paraplegia type 8","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002064","is_excluded":false,"label":"Spastic gait","onset_id":null,"reference":"ORPHA:100989","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"94caa254fce75a8981e3333b9fc395b49a9e2cdff7c9026865ab545bb67787f7","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:603563","disease_name":"Spastic paraplegia 8, autosomal dominant","evidence":"PCS","frequency_raw":"10/10","hpo_id":"HP:0002166","is_excluded":false,"label":"Impaired vibration sensation in the lower limbs","onset_id":null,"reference":"PMID:23455931","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"a0a1f1150242098df08a953d7e80a7d2ceee9dd08517ac5ed286f7cd6625987d","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:603563","disease_name":"Spastic paraplegia 8, autosomal dominant","evidence":"PCS","frequency_raw":"0/10","hpo_id":"HP:0001260","is_excluded":true,"label":"Dysarthria","onset_id":null,"reference":"PMID:23455931","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"a6b2a5324e7279bc9cab65dd3ac4d6e17cf92bc7a8390f3139d75c8cb3f28ce3","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:603563","disease_name":"Spastic paraplegia 8, autosomal dominant","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0002064","is_excluded":false,"label":"Spastic gait","onset_id":null,"reference":"PMID:23455931","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"b1af69738736fd8e8d644927ac8eea5e699fd9f965d244e9e9ddba732caac5c6","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:100989","disease_name":"Autosomal dominant spastic paraplegia type 8","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001347","is_excluded":false,"label":"Hyperreflexia","onset_id":null,"reference":"ORPHA:100989","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c063600444665225e40a74fd5b2aa71c79bde90a76491dfbd7d4e842fd35e964","raw":{"aspect":"P","body_system":"other","disease_id":"ORPHA:100989","disease_name":"Autosomal dominant spastic paraplegia type 8","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000020","is_excluded":false,"label":"Urinary incontinence","onset_id":null,"reference":"ORPHA:100989","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"cd92a9d6068a8fa8fe40a9dd8335fe2db7f2180b5960d692fa99b34a66c9e5e0","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:100989","disease_name":"Autosomal dominant spastic paraplegia type 8","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0009049","is_excluded":false,"label":"Peroneal muscle atrophy","onset_id":null,"reference":"ORPHA:100989","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"d02f0b946d6e8103f887abd82aca93c009f4a148a896563475986788acb0950b","raw":{"aspect":"P","body_system":"other","disease_id":"OMIM:603563","disease_name":"Spastic paraplegia 8, autosomal dominant","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000020","is_excluded":false,"label":"Urinary incontinence","onset_id":null,"reference":"OMIM:603563","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"df9f858ea4de2270d1d7d8d042eda36f84b57d08ace33303e8d7399bb5a0fdf9","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:100989","disease_name":"Autosomal dominant spastic paraplegia type 8","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0003487","is_excluded":false,"label":"Babinski sign","onset_id":null,"reference":"ORPHA:100989","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"e0ed260cca7988fba6140c84c2290e83741fd6c8e50f89f6eba393e7c765e060","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:100989","disease_name":"Autosomal dominant spastic paraplegia type 8","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0007340","is_excluded":false,"label":"Lower limb muscle weakness","onset_id":null,"reference":"ORPHA:100989","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"e21fd49c400ea16b40c0301e41eb4642689fb8d52ecefe45f89a84aa93df8638","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:100989","disease_name":"Autosomal dominant spastic paraplegia type 8","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001761","is_excluded":false,"label":"Pes cavus","onset_id":null,"reference":"ORPHA:100989","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"e396c616d4173a05bb9bb3bf93fc754a9caa33660f79e76034e365d6d72617a8","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:603563","disease_name":"Spastic paraplegia 8, autosomal dominant","evidence":"PCS","frequency_raw":"10/10","hpo_id":"HP:0002061","is_excluded":false,"label":"Lower limb spasticity","onset_id":null,"reference":"PMID:23455931","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"f3ae19cbee4c3ed82dc865acb71f1bbb51ae5bb0a4368fee7294cb002b3553a2","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:100989","disease_name":"Autosomal dominant spastic paraplegia type 8","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002169","is_excluded":false,"label":"Clonus","onset_id":null,"reference":"ORPHA:100989","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"f57ac0fa5813c27545899cc7a9aa94a6d7a768919b73fbfb511b496b8e9017f4","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:100989","disease_name":"Autosomal dominant spastic paraplegia type 8","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002166","is_excluded":false,"label":"Impaired vibration sensation in the lower limbs","onset_id":null,"reference":"ORPHA:100989","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"f9f7b3445bd22f63ef6f0975d1e4db45ffa060a0322125d29fb281284c9b491b","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:603563","disease_name":"Spastic paraplegia 8, autosomal dominant","evidence":"PCS","frequency_raw":"1/10","hpo_id":"HP:0001761","is_excluded":false,"label":"Pes cavus","onset_id":null,"reference":"PMID:23455931","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"ffae3f39c1a62d3ae99c48be27d0f4d02600e93ff4020278f845a8bbb2cd3b5c","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:100989","disease_name":"Autosomal dominant spastic paraplegia type 8","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001288","is_excluded":false,"label":"Gait disturbance","onset_id":null,"reference":"ORPHA:100989","source_release":"2026-06-23"},"sourceGroups":["orphanet"]}],"referenceLabels":{},"references":{"causeHtml":"","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"

Variants (also called mutations) in the WASHC5 gene cause spastic paraplegia type 8. The WASHC5 gene provides instructions for making a protein called strumpellin. Strumpellin is active (expressed) throughout the body.

Strumpellin interacts with the structural framework inside cells (the cytoskeleton). Strumpellin also binds to other proteins to form a complex that helps regulate the activity of endosomes. Endosomes are structures inside the cell that are involved in sorting, transporting, and recycling proteins and other materials.

WASHC5 gene variants are thought to reduce the amount of functional strumpellin protein. Though it is not known exactly how this causes the characteristic features of spastic paraplegia type 8, it likely impairs the transport of important molecules inside the cell.

MedlinePlus Genetics: Causes

","key":"forms","title":"What causes Spastic paraplegia type 8?"},{"bodyHtml":"

People with spastic paraplegia type 8 have spasticity and weakness of the leg muscles. Affected individuals may also experience exaggerated reflexes (hyperreflexia), a decreased ability to feel vibrations, and reduced bladder control. The signs and symptoms of spastic paraplegia type 8 can begin in childhood, although they typically appear in early to mid-adulthood.

People with spastic paraplegia type 8 tend to be more severely affected than those with other types of hereditary spastic paraplegias; affected individuals typically require wheelchair assistance in adulthood. However, the signs and symptoms of spastic paraplegia type 8 can vary, even among members of the same family.

Source: MedlinePlus Genetics

","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"spastic-paraplegia-type-8","sourceDocuments":[{"name":"Spastic paraplegia type 8","reviewed":"2024-07","sections":{"causes":{"fetchedAt":"2026-10-20T20:25:09.354703+00:00","label":"Causes","pageSha256":"46bea54aef8935018cb61d97797a48fed7f973a94623b1f1b59c952a7ea8f3ab","sourceUrl":"https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-8/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-8"}],"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":"Spastic paraplegia type 8"},"schemaVersion":1}