Autosomal Dominant Spastic Paraplegia Type 42

Description

Autosomal dominant spastic paraplegia type 42 is a pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging.

Clinical Features

Top most frequent phenotypes and symptoms related to Autosomal Dominant Spastic Paraplegia Type 42

  • Seizures
  • Muscle weakness
  • Hyperreflexia
  • Skeletal muscle atrophy
  • Babinski sign
  • Pes cavus
  • Spastic paraplegia
  • Lower limb muscle weakness
  • Lower limb spasticity
  • Spastic gait

And another 12 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available there are 1 families with AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 42 in Europe.
No data available about the known clinical features onset.

Alternative names

Autosomal Dominant Spastic Paraplegia Type 42 Is also known as spg42.

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 42 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 %
Ataxia Exome Panel.

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

BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)

View the complete list with 457 more genes
Specificity
1 %
Genes
100 %
Spastic Paraplegia 42 (sequence analysis of SLC33A1 gene).

By CGC Genetics (Portugal).

SLC33A1
Specificity
100 %
Genes
100 %

We have 35 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET MESH OMIM Rare Disease Search Engine

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