Spinocerebellar Ataxia Type 38

Description

Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy.

Clinical Features

Top most frequent phenotypes and symptoms related to Spinocerebellar Ataxia Type 38

  • Ataxia
  • Nystagmus
  • Peripheral neuropathy
  • Dysarthria
  • Tremor
  • Cerebellar atrophy
  • Behavioral abnormality
  • Gait ataxia
  • Difficulty walking
  • Distal muscle weakness

And another 6 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

Spinocerebellar Ataxia Type 38 Is also known as sca38.

Researches and researchers

Doctors, researchs, and experts related to Spinocerebellar Ataxia Type 38 extracted from public data.

Spinocerebellar Ataxia Type 38 Experts map



Current Researchs and researchers

  • BRESCIA — Pr Barbara BORRONI

    Principal investigator of clinical trial - Investigator of research project

    • Institution/s:
      — ASST Spedali Civili di Brescia
    • Research area/topic::

      Translating molecular pathology into a therapeutic strategy in SCA38, a newly identified form of spinocerebellar ataxia



Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Spinocerebellar Ataxia Type 38 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
Hereditary ataxias (NGS panel for 44 genes).

By CGC Genetics (Portugal).

SACS, SLC1A3, SPTBN2, TTPA, VAMP1, VLDLR, CACNA1A, CACNB4, ELOVL4, ABHD12, APTX, TGM6, COQ8A, SYNE1, TDP1, TTBK2, CCDC88C, ELOVL5, SYT14, PLEKHG4 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company (Germany).

BCS1L, ROR2, RPL10, BDNF, RPS6KA3, RTN2, RYR1, SACS, BIN1, SBF1, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCO1 , (...)

View the complete list with 1177 more genes
Specificity
1 %
Genes
100 %
Ataxia and differential diagnoses Panel.

By CeGaT GmbH (Germany).

RPIA, SACS, ATXN1, ATXN10, ATXN2, ATXN7, SCN2A, SLC17A5, SLC1A3, SLC6A1, SLC9A1, SNAP25, BTD, SPG7, SPR, SPTBN2, STUB1, TBP, TWNK, ACO2 , (...)

View the complete list with 184 more genes
Specificity
1 %
Genes
100 %
Ataxia, autosomal dominant and X-linked Panel.

By CeGaT GmbH (Germany).

ATXN1, ATXN10, ATXN2, ATXN7, SLC1A3, SPG7, SPTBN2, TBP, VAMP1, VLDLR, CACNA1A, CACNA1G, CACNB4, ELOVL4, NOP56, TGM6, TTBK2, CCDC88C, ELOVL5, BEAN1 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Spinocerebellar Ataxia.

By Asper Biogene Asper Biogene LLC (Estonia).

SACS, SLC9A1, SLC9A6, SPTBN2, STUB1, TWNK, ACO2, TTPA, WFS1, WWOX, ATP8A2, ELOVL4, NPC2, CASK, SNX14, ABHD12, NOP56, APTX, TGM6, PNPLA6 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
100 %
ELOVL5.

By Fulgent Genetics Fulgent Genetics (United States).

ELOVL5
Specificity
100 %
Genes
100 %
Ataxia Panel.

By Blueprint Genetics (Finland).

SACS, SLC1A3, SLC20A2, SLC2A1, SLC9A6, SPG7, SPTBN2, STUB1, TWNK, ACO2, CEP41, TTPA, VAMP1, VLDLR, WFS1, WWOX, ARL6, ATP8A2, FBXL4, CA8 , (...)

View the complete list with 137 more genes
Specificity
1 %
Genes
100 %

We have 1 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

ORPHANET OMIM 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 TRANSALDOLASE DEFICIENCY SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME; SSMS MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME; MCSKS EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT; EDMD2 MEVALONIC ACIDURIA; MEVA

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more