Autosomal Dominant Charcot-marie-tooth Disease Type 2e

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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.

Genes related to Autosomal Dominant Charcot-marie-tooth Disease Type 2e

PMP22
NEFL

View recommended genes panels

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.

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 Panel complete gene list YARS, PRX, GDAP1, LITAF, FIG4, MFN2, TRPV4, FGD4, SBF2, SH3TC2, DNM2, HSPB8, EGR2, GARS, GJB1, HSPB1, LMNA, MPZ, MTMR2, NDRG1, NEFL, PMP22, RAB7A 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 %

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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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