Autosomal Dominant Spastic Paraplegia Type 8

Description

Spastic paraplegia-8 is an autosomal dominant neurologic disorder characterized by adult onset of progressive lower limb spasticity and hyperreflexia resulting in difficulty walking. Some patients may become wheelchair-bound after several decades. Other features may include upper limb spasticity, impaired vibration sense in the distal lower limbs, and urinary urgency or incontinence (summary by de Bot et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Autosomal Dominant Spastic Paraplegia Type 8

  • Ataxia
  • Pain
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia
  • Dysarthria
  • Tremor
  • Gait disturbance
  • Dysphagia
  • Babinski sign

And another 28 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 Dominant Spastic Paraplegia Type 8 Is also known as spg8.

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 Dominant Spastic Paraplegia Type 8 Recommended genes panels

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

By Athena Diagnostics Inc (United States).

RTN2, BSCL2, NIPA1, WASHC5, HSPD1, SLC33A1
Specificity
17 %
Genes
100 %
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, Complete Dominant Evaluation.

By Athena Diagnostics Inc (United States).

RTN2, ATL1, SPAST, BSCL2, NIPA1, REEP1, WASHC5, HSPD1, KIF5A, SLC33A1
Specificity
10 %
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 %
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 %
Spastic paraplegia 8, autosomal dominant.

By Human Genetics University Hospital Bern (Switzerland).

WASHC5
Specificity
100 %
Genes
100 %
Hereditary spastic paraplegia AD (NGS panel for 10 genes).

By CGC Genetics (Portugal).

ATL1, SPAST, BSCL2, NIPA1, REEP1, ZFYVE27, WASHC5, HSPD1, KIF5A, SLC33A1
Specificity
10 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SMITH-MCCORT DYSPLASIA 1; SMC1 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE; SPG11 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 3; SCAR3 RECESSIVE X-LINKED ICHTHYOSIS ACROMICRIC DYSPLASIA; ACMICD

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