Autosomal Recessive Spastic Paraplegia Type 39

Description

This syndrome is characterised by progressive spastic paraplegia and distal muscle wasting.

Clinical Features

Top most frequent phenotypes and symptoms related to Autosomal Recessive Spastic Paraplegia Type 39

  • Ataxia
  • Spasticity
  • Cognitive impairment
  • Peripheral neuropathy
  • Hyperreflexia
  • Skeletal muscle atrophy
  • Gait disturbance
  • Abnormality of the skeletal system
  • Cerebellar atrophy
  • Babinski sign

And another 11 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 39 Is also known as spastic paraplegia due to neuropathy target esterase mutation, spg39, nte-related motor neuron disorder, spastic paraplegia due to nte mutation, ntemnd.

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 39 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 %
Test for Spastic Paraplegia 39.

By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands).

PNPLA6
Specificity
100 %
Genes
100 %
HSPAR panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands).

SACS, SPG11, SPG7, CCT5, PNPLA6, GJC2, SPART, SPG21, ZFYVE26, CYP7B1
Specificity
10 %
Genes
100 %
Hereditary Spastic Paraplegia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

RTN2, SACS, SLC16A2, SLC2A1, KDM5C, SPG11, ATL1, SPAST, SPG7, VAMP1, ERLIN2, CAPN1, BSCL2, PNPLA6, ERLIN1, NIPA1, GJC2, EXOSC3, SPART, CPT1C , (...)

View the complete list with 36 more genes
Specificity
2 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

MESH ORPHANET OMIM Genetic Syndrome Finder

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