Autosomal Recessive Spastic Paraplegia Type 78

Clinical Features

Top most frequent phenotypes and symptoms related to Autosomal Recessive Spastic Paraplegia Type 78

  • Strabismus
  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria
  • Skeletal muscle atrophy
  • Hypoplasia of the corpus callosum
  • Cerebellar atrophy
  • Dystonia
  • Babinski sign
  • Dementia

And another 18 symptoms. If you need more information about this disease we can help you.

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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 Recessive Spastic Paraplegia Type 78 Is also known as spg78.

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.


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Autosomal Recessive Spastic Paraplegia Type 78 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Epilepsy Advanced Sequencing and CNV Evaluation - Neuronal Ceroid Lipofuscinosis.

By Athena Diagnostics Inc (United States).

DNAJC5, TPP1, CLN3, CLN5, CLN6, CLN8, KCTD7, CTSD, CTSF, MFSD8, ATP13A2, GRN, PPT1
Specificity
8 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
100 %
Lysosomal Storage Disease Panel.

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

SGSH, SLC17A5, SMPD1, TCF4, MCOLN1, NPC2, ADAMTSL2, DNAJC5, SUMF1, TPP1, CLN3, CLN5, CLN6, CLN8, DYM, ANTXR2, COL11A2, PEX26, GNE, CTNS , (...)

View the complete list with 54 more genes
Specificity
2 %
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 %
Dystonia.

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

SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SPR, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, FBXO7, CACNA1A, NPC2, PINK1, PANK2, SAMHD1, APTX , (...)

View the complete list with 57 more genes
Specificity
2 %
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 %
Parkinson's Disease.

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

SLC6A3, SNCA, TAF1, TH, VPS35, FBXO7, PINK1, PARK7, LRRK2, CSF1R, DCTN1, ATP13A2, GBA, GCH1, MAPT, ATP1A3, PRKN, PLA2G6, POLG
Specificity
6 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

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