SPAST gene related symptoms and diseases
All the information presented here about the SPAST gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SPAST gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Very Common - Between 80% and 100% cases |
Progressive spastic paraplegia | Very Common - Between 80% and 100% cases |
Lower limb spasticity | Very Common - Between 80% and 100% cases |
Progressive muscle weakness | Very Common - Between 80% and 100% cases |
Spastic gait | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with SPAST gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Paraparesis
- Spastic paraparesis
- Hyperkinesis
- Apathy
- Impaired vibratory sensation
- Brisk reflexes
- Agitation
- Urinary urgency
And 47 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SPAST gene
Here you will find a list of rare diseases related to the SPAST. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 4
Alternate names
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 4 Is also known as familial spastic paraplegia, autosomal dominant, 2, spg4, fsp2
Description
Autosomal dominant spastic paraplegia type 4 (SPG4) is a form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset.
Most common symptoms of AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 4
- Intellectual disability
- Seizures
- Ataxia
- Nystagmus
- Muscle weakness
More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 4
Search interest in SPAST
Potential gene panels for SPAST gene
HSP, Common Dominant Evaluation Panel
By Athena Diagnostics Inc HSP, Common Dominant Evaluation that also includes the following genes: ATL1 SPAST REEP1 KIF5A
More info about this panelHSP, Comprehensive Evaluation Panel
By Athena Diagnostics Inc HSP, Comprehensive Evaluation that also includes the following genes: RTN2 SACS SPG11 ATL1 SPAST SPG7 BSCL2 PNPLA6 NIPA1 SPART
More info about this panelSPG4 Evaluation Panel
By Athena Diagnostics Inc
This panel specifically test the SPAST gene.
More info about this panelHSP, Common Sporadic Evaluation Panel
By Athena Diagnostics Inc HSP, Common Sporadic Evaluation that also includes the following genes: SPAST SPG7
More info about this panelHSP, Complete Dominant Evaluation Panel
By Athena Diagnostics Inc HSP, Complete Dominant Evaluation that also includes the following genes: RTN2 ATL1 SPAST BSCL2 NIPA1 REEP1 WASHC5 HSPD1 KIF5A SLC33A1
More info about this panelHereditary Spastic Paraplegia Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Hereditary Spastic Paraplegia Panel that also includes the following genes: RTN2 SACS SLC16A2 SLC2A1 KDM5C SPG11 ATL1 SPAST SPG7 TFG
More info about this panelHereditary Spastic Paraplegia Exome Panel Panel
By Genetic Services Laboratory University of Chicago Hereditary Spastic Paraplegia Exome Panel that also includes the following genes: RTN2 SACS SLC16A2 SLC2A1 KDM5C SPG11 ATL1 SPAST SPG7 VAMP1
More info about this panelAtaxia Exome Panel Panel
By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
More info about this panelSpastic Paraplegia 4 Panel
By Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital
This panel specifically test the SPAST gene.
More info about this panelHereditary Spastic Paraplegia 4 Panel
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust
This panel specifically test the SPAST gene.
More info about this panelSpastin (SPAST) gene sequencing test Panel
By Neurogenetics Department Cyprus Institute of Neurology and Genetics
This panel specifically test the SPAST gene.
More info about this panelSpastin (SPAST) and Atlastin (ATL1) gene dosage evaluation by MLPA analysis Panel
By Neurogenetics Department Cyprus Institute of Neurology and Genetics Spastin (SPAST) and Atlastin (ATL1) gene dosage evaluation by MLPA analysis that also includes the following genes: ATL1 SPAST
More info about this panelSPG4. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SPAST gene.
More info about this panelSPG4. MLPA testing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SPAST gene.
More info about this panelSpastic paraplegia 3A and 4 (SPG3A/SPG4, deletion/duplication analysis of ATL1 and SPAST genes) Panel
By CGC Genetics Spastic paraplegia 3A and 4 (SPG3A/SPG4, deletion/duplication analysis of ATL1 and SPAST genes) that also includes the following genes: ATL1 SPAST
More info about this panelSpastic Paraplegia 4 (sequence analysis of SPAST gene) Panel
By CGC Genetics
This panel specifically test the SPAST gene.
More info about this panelHereditary spastic paraplegia AD (NGS panel for 10 genes) Panel
By CGC Genetics Hereditary spastic paraplegia AD (NGS panel for 10 genes) that also includes the following genes: ATL1 SPAST BSCL2 NIPA1 REEP1 ZFYVE27 WASHC5 HSPD1 KIF5A SLC33A1
More info about this panelHereditary spastic paraplegia (NGS panel for 43 genes) Panel
By CGC Genetics Hereditary spastic paraplegia (NGS panel for 43 genes) that also includes the following genes: RTN2 SPG11 ATL1 SPAST SPG7 TFG ERLIN2 BSCL2 PNPLA6 NIPA1
More info about this panelSpastic Paraplegia 4 via SPAST Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the SPAST gene.
More info about this panelPure Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Pure Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection that also includes the following genes: RTN2 SPG11 ATL1 SPAST SPG7 CAPN1 ERLIN1 NIPA1 BICD2 ZFR
More info about this panelComplex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection that also includes the following genes: SACS SLC16A2 KDM5C SPG11 ATL1 SPAST SPG7 TFG UCHL1 USP8
More info about this panelHereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection that also includes the following genes: RTN2 SACS SLC16A2 KDM5C SPG11 ATL1 SPAST SPG7 TFG UCHL1
More info about this panelAutism Spectrum Disorders Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Autism Spectrum Disorders Sequencing Panel with CNV Detection that also includes the following genes: SCN1A SCN2A SGSH BRAF SLC6A1 SLC9A6 SPAST CDKL5 STXBP1 SYN2
More info about this panelNeuropathy Panel
By MGZ Medical Genetics Center Neuropathy that also includes the following genes: SACS SCN10A SCN11A SCN9A SH3BP4 SLC12A6 SOD1 SPG11 ATL1 SPAST
More info about this panelSPAST Panel
By MGZ Medical Genetics Center
This panel specifically test the SPAST gene.
More info about this panelNeurogenetic Disorders - panels Panel
By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2
More info about this panelNeurodegeneration with Brain Iron Accumulation (NBIA) Panel
By MGZ Medical Genetics Center Neurodegeneration with Brain Iron Accumulation (NBIA) that also includes the following genes: ATL1 SPAST PANK2 FA2H CP C19orf12 DCAF17 IBA57 WDR45 ATP13A2
More info about this panelAllNeuro panel Panel
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panelSPASTIC PARAPLEGIA 4 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the SPAST gene.
More info about this panelSpastic paraplegia AD panel Panel
By Centogene AG - the Rare Disease Company Spastic paraplegia AD panel that also includes the following genes: RTN2 ATL1 SPAST BSCL2 NIPA1 REEP1 ZFYVE27 WASHC5 HSPD1 KIF5A
More info about this panelHereditary Spastic Paraplegias (HSP) and differential diagnoses Panel Panel
By CeGaT GmbH Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel that also includes the following genes: RTN2 SACS AIMP1 SLC16A2 SLC1A4 SLC25A15 SOD1 SOX10 SPG11 ATL1
More info about this panelNuclear encoded Mitochondriopathies Panel Panel
By CeGaT GmbH Nuclear encoded Mitochondriopathies Panel that also includes the following genes: RMRP BCS1L MRPL3 SACS SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panelSingle gene testing SPAST Panel
By CeGaT GmbH
This panel specifically test the SPAST gene.
More info about this panelHereditary spastic paraplegia (HSP), autosomal dominant and X-linked Panel Panel
By CeGaT GmbH Hereditary spastic paraplegia (HSP), autosomal dominant and X-linked Panel that also includes the following genes: RTN2 ATL1 SPAST BSCL2 ABHD12 NIPA1 REEP2 CPT1C KANK1 REEP1
More info about this panelHereditary Spastic Paraplegia Panel
By Asper Biogene Asper Biogene LLC Hereditary Spastic Paraplegia that also includes the following genes: RTN2 SLC16A2 SPG11 ATL1 SPAST SPG7 ERLIN2 BSCL2 PNPLA6 NIPA1
More info about this panelSpastic paraplegia, SPG4 (SPAST) sequencing Panel
By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the SPAST gene.
More info about this panelSpastic Paraplegia 4 Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the SPAST gene.
More info about this panelSPG4 Gene Sequencing Panel
By GENETIX Centro de Investigación en Genética Humana y Reproductiva
This panel specifically test the SPAST gene.
More info about this panelSpastic Paraplegia 4 Panel
By MedGene
This panel specifically test the SPAST gene.
More info about this panelInvitae Hereditary Spastic Paraplegia Autosomal Dominant Panel Panel
By Invitae Invitae Hereditary Spastic Paraplegia Autosomal Dominant Panel that also includes the following genes: RTN2 ATL1 SPAST VAMP1 BSCL2 NIPA1 REEP1 WASHC5 HSPD1 KIF5A
More info about this panelInvitae Hereditary Spastic Paraplegia Comprehensive Panel Panel
By Invitae Invitae Hereditary Spastic Paraplegia Comprehensive Panel that also includes the following genes: RTN2 SACS SLC16A2 KDM5C SPG11 ATL1 SPAST SPG7 VAMP1 ERLIN2
More info about this panelSpastic paraplegia 4: SPG4 (SPAST) gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the SPAST gene.
More info about this panelSpastic paraplegia 4: SPG4 gene deletions/duplications (MLPA) analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the SPAST gene.
More info about this panelSPASTIC PARAPLEGIA A.D. Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases SPASTIC PARAPLEGIA A.D. that also includes the following genes: ATL1 SPAST BSCL2 NIPA1 REEP1 ZFYVE27 WASHC5 HSPD1 KIF5A SLC33A1
More info about this panelHereditary Neuropathies: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Neuropathies: Sequencing Panel that also includes the following genes: SACS SCN9A SLC12A6 SLC1A3 SPG11 ATL1 SPAST SPG7 SPTBN2 SPTLC1
More info about this panelHereditary Neuropathies: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Neuropathies: Deletion/Duplication Panel that also includes the following genes: SACS SCN9A SLC12A6 SLC1A3 SPG11 ATL1 SPAST SPG7 SPTBN2 SPTLC1
More info about this panelAutism NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Autism NGS Panel that also includes the following genes: RPL10 BDNF SCN1A SCN2A BRAF SLC6A4 SLC9A6 SMC1A KDM5C SNRPN
More info about this panelSpastic Paraplegia NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Spastic Paraplegia NGS Panel that also includes the following genes: RTN2 SLC16A2 SPG11 ATL1 SPAST SPG7 ACOX1 BSCL2 NIPA1 SPART
More info about this panelNuclear-Mito NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7
More info about this panelSPAST Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SPAST gene.
More info about this panelSpastic Paraplegia Panel Panel
By Blueprint Genetics Spastic Paraplegia Panel that also includes the following genes: SACS SLC16A2 SLC25A15 KDM5C BTD SPG11 ATL1 SPAST SPG7 SPR
More info about this panelAmyotrophic Lateral Sclerosis Panel Panel
By Blueprint Genetics Amyotrophic Lateral Sclerosis Panel that also includes the following genes: SOD1 SPG11 ATL1 SPAST SQSTM1 TARDBP TUBA4A UBQLN2 VAPB VCP
More info about this panelParaplejÃ?Â?Ã?Âa espÃ?Â?Ã?¡stica autosÃ?Â?Ã?³mica dominante tipo 4 Panel
By Bioarray
This panel specifically test the SPAST gene.
More info about this panelSPASTIC PARAPLEGIA, FAMILIAL (AUTOSOMAL DOMINANT) Panel
By Laboratorio de Genetica Clinica SL SPASTIC PARAPLEGIA, FAMILIAL (AUTOSOMAL DOMINANT) that also includes the following genes: RTN2 ATL1 SPAST BSCL2 NIPA1 REEP1 ZFYVE27 WASHC5 HSPD1 KIF5A
More info about this panelSPASTIC PARAPLEGIA, FAMILIAL NGS PANEL Panel
By Laboratorio de Genetica Clinica SL SPASTIC PARAPLEGIA, FAMILIAL NGS PANEL that also includes the following genes: RTN2 SACS SLC16A2 SPG11 ATL1 SPAST SPG7 TFG TTR VCP
More info about this panelSpastic paraplegia panel, autosomal dominant Panel
By LifeLabs Genetics Spastic paraplegia panel, autosomal dominant that also includes the following genes: RTN2 ATL1 SPAST BSCL2 NIPA1 REEP1 ZFYVE27 WASHC5 HSPD1 KIF5A
More info about this panelFamilial Spastic Paraplegia Type 4 , Sequencing SPAST Gene Panel
By Reference Laboratory Genetics
This panel specifically test the SPAST gene.
More info about this panelFamilial Spastic Paraplegia Type 4, Deletions-Duplications (MLPA) SPG4 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the SPAST gene.
More info about this panelAutosomal Dominant Familial Spastic Paraplegia , Panel Massive Sequencing (NGS) 9 Genes Panel
By Reference Laboratory Genetics Autosomal Dominant Familial Spastic Paraplegia , Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: ATL1 SPAST BSCL2 NIPA1 REEP1 WASHC5 HSPD1 KIF5A SLC33A1
More info about this panelFamilial Spastic Paraplegia , Panel Massive Sequencing (NGS) 22 Genes Panel
By Reference Laboratory Genetics Familial Spastic Paraplegia , Panel Massive Sequencing (NGS) 22 Genes that also includes the following genes: SPG11 ATL1 SPAST SPG7 BSCL2 PNPLA6 NIPA1 GJC2 SPART ZFYVE26
More info about this panelAutism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes Panel
By Reference Laboratory Genetics Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes that also includes the following genes: RPL10 BDNF SCN1A SCN2A BRAF SLC6A4 SLC9A6 SMC1A KDM5C SNRPN
More info about this panelHereditary Spastic Paraplegia: gene sequencing panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Hereditary Spastic Paraplegia: gene sequencing panel that also includes the following genes: RTN2 SLC16A2 ATL1 SPAST ERLIN2 BSCL2 NIPA1 GJC2 SPART GBA2
More info about this panelSpastic Paraplegia 4: gene sequencing Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the SPAST gene.
More info about this panelSpastic Paraplegia 4: gene deletion/duplication Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the SPAST gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TRIM27 SMPX SCA32 TGIF1 WDR19 SBDS HLA-DQB1