Charcot-marie-tooth Disease, Demyelinating, Type 1a; Cmt1a

Table of contents:

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

Description

For a general phenotypic description and a discussion of genetic heterogeneity of Charcot-Marie-Tooth disease type 1, see CMT1B (OMIM ).CMT1A is the most common form of CMT. The average age of onset of clinical symptoms is 12.2 +/- 7.3 years. Slow nerve conduction velocity (NCV) less than 38 m/s is highly diagnostic and is a 100% penetrant phenotype independent of age ({36,39:Lupski et al., 1991, 1992}).

Genes related to Charcot-marie-tooth Disease, Demyelinating, Type 1a; Cmt1a

PMP22

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Clinical Features

Top most frequent phenotypes and symptoms related to Charcot-marie-tooth Disease, Demyelinating, Type 1a; Cmt1a

Global developmental delay
Hearing impairment
Muscle weakness
Motor delay
Peripheral neuropathy
Skeletal muscle atrophy
Areflexia
Hyporeflexia
Pes cavus
Kyphoscoliosis

And another 35 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

Charcot-marie-tooth Disease, Demyelinating, Type 1a; Cmt1a Is also known as hereditary motor and sensory neuropathy ia, hmsn ia, charcot-marie-tooth neuropathy, type 1a, hmsn1a, charcot-marie-tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1a.

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.

Charcot-marie-tooth Disease, Demyelinating, Type 1a; Cmt1a 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 8 % Genes 100 %
CMT Advanced Evaluation - Dominant, Demyelinating. By Athena Diagnostics Inc (United States). YARS, LITAF, DNM2, EGR2, MPZ, PMP22 Specificity 17 % Genes 100 %
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 5 % 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 100 %
Complete HNPP Evaluation. By Athena Diagnostics Inc (United States). PMP22 Specificity 100 % Genes 100 %
PMP22 Duplication/Deletion DNA Test. By Athena Diagnostics Inc (United States). PMP22 Specificity 100 % Genes 100 %
PMP22 DNA Sequencing Test. By Athena Diagnostics Inc (United States). PMP22 Specificity 100 % Genes 100 %
Entrapment Neuropathy Evaluation. By Athena Diagnostics Inc (United States). TTR, PMP22 Specificity 50 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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