Autosomal Dominant Charcot-marie-tooth Disease Type 2q

Description

Autosomal dominant Charcot-Marie-Tooth disease type 2Q is a rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment.

Clinical Features

Phenotypes and symptoms related to Autosomal Dominant Charcot-marie-tooth Disease Type 2q

  • Skeletal muscle atrophy
  • Pes cavus
  • Difficulty walking
  • Lower limb muscle weakness
  • Sensory impairment

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 Charcot-marie-tooth Disease Type 2q Is also known as charcot-marie-tooth neuropathy, type 2q, cmt2q, charcot-marie-tooth disease, axonal, autosomal dominant, type 2q.

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 Charcot-marie-tooth Disease Type 2q Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Charcot-Marie-Tooth Hereditary Neuropathy Panel.

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

SBF1, SLC12A6, SPG11, SURF1, TFG, VCP, YARS, PRX, BSCL2, GDAP1, TRIM2, KIF1B, LITAF, FIG4, MFN2, TRPV4, FGD4, AARS, GNB4, SBF2 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

SBF1, SCN9A, SLC12A6, SOX10, ATL1, SPTLC1, SPTLC2, TFG, YARS, PRX, SLC5A7, ARHGEF10, WNK1, BSCL2, GDAP1, TRIM2, CCT5, KIF1B, LITAF, FIG4 , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
100 %
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

SBF1, SCN9A, SLC12A6, SOX10, ATL1, SPTLC1, SPTLC2, TFG, YARS, PRX, SLC5A7, ARHGEF10, WNK1, BSCL2, GDAP1, TRIM2, CCT5, KIF1B, LITAF, FIG4 , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
100 %
Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes).

By CGC Genetics (Portugal).

SBF1, SCN11A, SCN9A, DST, SLC12A6, SOX10, ATL1, SPTLC1, SPTLC2, TWNK, TFG, TTR, YARS, PRX, ARHGEF10, WNK1, BSCL2, ABHD12, GDAP1, TRIM2 , (...)

View the complete list with 54 more genes
Specificity
2 %
Genes
100 %
Charcot-Marie-Tooth disease (NGS panel for 43 genes).

By CGC Genetics (Portugal).

SBF1, YARS, PRX, GDAP1, TRIM2, KIF1B, LITAF, FIG4, MFN2, TRPV4, FGD4, AARS, GNB4, SBF2, COX6A1, DHTKD1, INF2, LRSAM1, C12orf65, MED25 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
Charcot Marie Tooth - Comprehensive Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SBF1, YARS, PRX, GDAP1, TRIM2, LITAF, FIG4, MFN2, TRPV4, FGD4, AARS, GNB4, SBF2, COX6A1, DHTKD1, INF2, CTDP1, LRSAM1, MED25, PLEKHG5 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Charcot Marie Tooth - Axonal Neuropathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SBF1, PRX, GDAP1, TRIM2, FIG4, MFN2, TRPV4, FGD4, AARS, GNB4, SBF2, COX6A1, DHTKD1, INF2, LRSAM1, MED25, PLEKHG5, SH3TC2, DYNC1H1, DNM2 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Comprehensive Neuropathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SBF1, SCN9A, SLC12A6, ATL1, SPTLC1, SPTLC2, TFG, TTR, YARS, PRX, SLC5A7, BSCL2, GDAP1, TRIM2, CCT5, LITAF, FIG4, MFN2, BICD2, TRPV4 , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Genetic Syndrome Finder

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