Autosomal Spastic Paraplegia Type 30

Description

Autosomal spastic paraplegia type 30 is a form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, unsteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy.

Clinical Features

Top most frequent phenotypes and symptoms related to Autosomal Spastic Paraplegia Type 30

  • Ataxia
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia
  • Skeletal muscle atrophy
  • Cerebellar atrophy
  • Babinski sign
  • Spastic paraplegia
  • Paraplegia
  • Lower limb muscle weakness

And another 19 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Autosomal Spastic Paraplegia Type 30 Is also known as spg30.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Autosomal Spastic Paraplegia Type 30 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
HSP, Comprehensive Evaluation.

By Athena Diagnostics Inc (United States).

RTN2, SACS, SPG11, ATL1, SPAST, SPG7, BSCL2, PNPLA6, NIPA1, SPART, SPG21, ZFYVE26, FA2H, AP5Z1, REEP1, CYP7B1, WASHC5, ALS2, HSPD1, KIF5A , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
HSP, Supplemental Sporadic Evaluation.

By Athena Diagnostics Inc (United States).

RTN2, SACS, SPG11, ATL1, BSCL2, PNPLA6, NIPA1, SPART, SPG21, ZFYVE26, FA2H, AP5Z1, REEP1, CYP7B1, WASHC5, ALS2, HSPD1, KIF5A, L1CAM, KIF1A , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
HSP, Supplemental Recessive Evaluation.

By Athena Diagnostics Inc (United States).

SACS, PNPLA6, SPART, SPG21, FA2H, AP5Z1, CYP7B1, ALS2, KIF1A
Specificity
12 %
Genes
100 %
HSP, Complete Recessive Evaluation.

By Athena Diagnostics Inc (United States).

SACS, SPG11, SPG7, PNPLA6, SPART, SPG21, ZFYVE26, FA2H, AP5Z1, CYP7B1, ALS2, KIF1A
Specificity
9 %
Genes
100 %
Hereditary Spastic Paraplegia Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RTN2, SACS, SLC16A2, SLC2A1, KDM5C, SPG11, ATL1, SPAST, SPG7, TFG, ACOX1, TREX1, UCHL1, VAMP1, ERLIN2, CAPN1, BSCL2, SAMHD1, PNPLA6, ERLIN1 , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SQSTM1, PANK2, TRIM32, FA2H, CP, C19orf12, DCAF17, WDR45, COASY, ATP13A2, FTL, FUCA1, KIF1A, PLA2G6
Specificity
8 %
Genes
100 %
Movement Disorders Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SNCA, SPR, SQSTM1, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, VPS35, FBXO7, CACNA1A, NPC2, PINK1 , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
100 %
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing and Deletion/Duplication.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SQSTM1, PANK2, TRIM32, FA2H, CP, C19orf12, DCAF17, WDR45, COASY, ATP13A2, FTL, FUCA1, KIF1A, PLA2G6
Specificity
8 %
Genes
100 %

You can get up to 65 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Genetic Syndrome Finder

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