Autosomal Dominant Charcot-marie-tooth Disease Type 2f

Description

Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop.

Clinical Features

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

  • Hearing impairment
  • Pain
  • Peripheral neuropathy
  • Talipes equinovarus
  • Areflexia
  • Hyporeflexia
  • Pes cavus
  • Difficulty walking
  • Apnea
  • Distal muscle weakness

And another 24 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 2f Is also known as charcot-marie-tooth neuropathy, type 2f, charcot-marie-tooth disease, neuronal, type 2f, cmt2f.

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 2f 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, Axonal.

By Athena Diagnostics Inc (United States).

YARS, MFN2, TRPV4, DNM2, HSPB8, GARS, HSPB1, LMNA, MPZ, NEFL, RAB7A
Specificity
10 %
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
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 %
HSPB1 (CMT2F) DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

HSPB1
Specificity
100 %
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 %
Atypical Spinal Muscular Atrophy Advanced Sequencing Evaluation.

By Athena Diagnostics Inc (United States).

UBA1, VRK1, BICD2, TRPV4, DYNC1H1, HSPB8, GARS, HSPB1, HSPB3, IGHMBP2
Specificity
10 %
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.

ORPHANET OMIM MESH Genetic Syndrome Finder

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