Autosomal Dominant Charcot-marie-tooth Disease Type 2e

Description

Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor.

Clinical Features

Top most frequent phenotypes and symptoms related to Autosomal Dominant Charcot-marie-tooth Disease Type 2e

  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Muscle weakness
  • Ptosis
  • Flexion contracture
  • High palate
  • Motor delay
  • Peripheral neuropathy
  • Skeletal muscle atrophy

And another 26 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 Charcot-marie-tooth Disease Type 2e Is also known as cmt2e, charcot-marie-tooth neuropathy, type 2e.

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 2e Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CMT Advanced Evaluation - Dominant.

By Athena Diagnostics Inc (United States).

YARS, LITAF, MFN2, TRPV4, DNM2, HSPB8, EGR2, GARS, HSPB1, MPZ, NEFL, PMP22, RAB7A
Specificity
16 %
Genes
100 %
CMT Advanced Evaluation - Dominant, Demyelinating.

By Athena Diagnostics Inc (United States).

YARS, LITAF, DNM2, EGR2, MPZ, PMP22
Specificity
17 %
Genes
50 %
CMT Advanced Evaluation - Comprehensive.

By Athena Diagnostics Inc (United States).

YARS, PRX, GDAP1, LITAF, FIG4, MFN2, TRPV4, FGD4, SBF2, SH3TC2, DNM2, HSPB8, EGR2, GARS, GJB1, HSPB1, LMNA, MPZ, MTMR2, NDRG1 , (...)

View the complete list with 3 more genes
Specificity
9 %
Genes
100 %
CMT Advanced Evaluation - Demyelinating.

By Athena Diagnostics Inc (United States).

YARS, PRX, GDAP1, LITAF, FIG4, FGD4, SBF2, SH3TC2, DNM2, EGR2, GJB1, MPZ, MTMR2, NDRG1, PMP22
Specificity
7 %
Genes
50 %
Complete HNPP Evaluation.

By Athena Diagnostics Inc (United States).

PMP22
Specificity
100 %
Genes
50 %
PMP22 Duplication/Deletion DNA Test.

By Athena Diagnostics Inc (United States).

PMP22
Specificity
100 %
Genes
50 %
PMP22 DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

PMP22
Specificity
100 %
Genes
50 %
Entrapment Neuropathy Evaluation.

By Athena Diagnostics Inc (United States).

TTR, PMP22
Specificity
50 %
Genes
50 %

We have 153 more panels available in our App

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Sources and references

You can check the following sources for additional information.

MESH ORPHANET OMIM Genetic Syndrome Finder

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