X-linked Charcot-marie-tooth Disease Type 1

Description

X-linked Charcot-Marie-Tooth disease type 1 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset (within the first decade in males) of progressive, distal, moderate to severe muscle weakness and atrophy in lower extremities and intrinsic hand muscles, pes cavus, bilateral foot drop, reduced or absent tendon reflexes, as well as mild to moderate sensory impairment in lower extremities. Females tend to have milder manifestations or may be asymptomatic. Sensorineural deafness and central nervous system involvement have also been reported.

Clinical Features

Top most frequent phenotypes and symptoms related to X-linked Charcot-marie-tooth Disease Type 1

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscle weakness
  • Flexion contracture
  • Motor delay
  • Peripheral neuropathy
  • Hyperreflexia

And another 62 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

X-linked Charcot-marie-tooth Disease Type 1 Is also known as cmt2, formerly, cmt1x, charcot-marie-tooth peroneal muscular atrophy, x-linked, cmtx1, cmtx, charcot-marie-tooth neuropathy, x-linked, 1, hereditary motor and sensory neuropathy, x-linked, hmsn, x-linked.

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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X-linked Charcot-marie-tooth Disease Type 1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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
5 %
Genes
100 %
CMT Advanced Evaluation - Axonal.

By Athena Diagnostics Inc (United States).

YARS, GDAP1, MFN2, TRPV4, DNM2, HSPB8, GARS, GJB1, HSPB1, LMNA, MPZ, NEFL, RAB7A
Specificity
8 %
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 %
Connexin32 Evaluation.

By Athena Diagnostics Inc (United States).

GJB1
Specificity
100 %
Genes
100 %
CMT Advanced Evaluation - Initial Genetic Assessment.

By Athena Diagnostics Inc (United States).

MFN2, GJB1, MPZ, PMP22
Specificity
25 %
Genes
100 %
CMT Advanced Evaluation - Nonprevalent.

By Athena Diagnostics Inc (United States).

YARS, PRX, GDAP1, LITAF, FIG4, TRPV4, FGD4, SBF2, SH3TC2, DNM2, HSPB8, EGR2, GARS, GJB1, HSPB1, LMNA, MTMR2, NDRG1, NEFL, PMP22 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
CMT Advanced Evaluation - Nonprevalent Demyelinating.

By Athena Diagnostics Inc (United States).

YARS, PRX, GDAP1, LITAF, FIG4, FGD4, SBF2, SH3TC2, DNM2, EGR2, GJB1, MTMR2, NDRG1, PMP22
Specificity
8 %
Genes
100 %
CMT Advanced Evaluation - Nonprevalent Axonal.

By Athena Diagnostics Inc (United States).

YARS, GDAP1, TRPV4, DNM2, HSPB8, GARS, GJB1, HSPB1, LMNA, NEFL, RAB7A
Specificity
10 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Symptoms Checker

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