Distal Myopathy, Welander Type

Description

Distal myopathy, Welander type (WDM) is a distal myopathy characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors.

Clinical Features

Phenotypes and symptoms related to Distal Myopathy, Welander Type

  • Myopathy

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.

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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Distal Myopathy, Welander Type Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Distal Myopathy Advanced Sequencing Evaluation.

By Athena Diagnostics Inc (United States).

TIA1, MYOT, TTN, VCP, CAV3, LDB3, KLHL9, GNE, CRYAB, ANO5, DES, DNM2, DYSF, FLNC, MATR3, MYH7, NEB
Specificity
6 %
Genes
100 %
Neuromuscular Disorders Panel.

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

RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, SLC25A4, SUCLA2, SUCLG1, TWNK, TCAP, TIA1, TK2, TNNI2, TNNT1, TPM2, TPM3, MYOT , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
100 %
Welander Distal Myopathy (sequence analysis of TIA1 gene).

By CGC Genetics (Portugal).

TIA1
Specificity
100 %
Genes
100 %
Welander Distal Myopathy via TIA1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

TIA1
Specificity
100 %
Genes
100 %
Distal Hereditary Myopathy Sequencing Panel.

By PreventionGenetics PreventionGenetics (United States).

SQSTM1, TCAP, TIA1, MYOT, TTN, VCP, DNAJB6, CAV3, LDB3, KLHL9, GNE, CRYAB, ANO5, DES, DYSF, FHL1, FLNC, MATR3, MYH7, BAG3
Specificity
5 %
Genes
100 %
Comprehensive Neuromuscular Sequencing Panel.

By PreventionGenetics PreventionGenetics (United States).

RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCG, SNAP25, SQSTM1, STIM1, SYT2, TCAP, TIA1, TNNI2, TNNT1, TNNT3, TPM2, TPM3, MYOT, TTN , (...)

View the complete list with 104 more genes
Specificity
1 %
Genes
100 %
Welander distal myopathy.

By Neuromuscular Research Unit, Neurogenetics University of Tampere (Finland).

TIA1
Specificity
100 %
Genes
100 %
Distal Myopathy NGS panel.

By Connective Tissue Gene Tests (United States).

SQSTM1, TCAP, TIA1, MYOT, TTN, VCP, DNAJB6, CAV3, LDB3, GNE, CRYAB, ANO5, DES, DNM2, DYSF, FHL1, FLNC, MATR3, MYH7, BAG3
Specificity
5 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET 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 LISSENCEPHALY 8; LIS8 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36; EIEE36 CARDIOMYOPATHY, DILATED, 1A; CMD1A DUCHENNE MUSCULAR DYSTROPHY

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