Charcot-marie-tooth Disease Type 2b1

Description

Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy.

Clinical Features

Top most frequent phenotypes and symptoms related to Charcot-marie-tooth Disease Type 2b1

  • Areflexia
  • Hyporeflexia
  • Pes cavus
  • Kyphoscoliosis
  • Proximal muscle weakness
  • Distal muscle weakness
  • Distal amyotrophy
  • Distal sensory impairment
  • Foot dorsiflexor weakness
  • Steppage gait

And another 6 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 Type 2b1 Is also known as ar-cmt2b1, charcot-marie-tooth disease, neuronal, type 2b1, charcot-marie-tooth neuropathy, type 2b1, autosomal recessive axonal cmt4c1, autosomal recessive charcot-marie-tooth disease type 2b1, charcot-marie-tooth disease, axonal, autosomal recessive, type 2b.

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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Charcot-marie-tooth Disease Type 2b1 Recommended genes panels

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

By Athena Diagnostics Inc (United States).

PRX, GDAP1, FIG4, FGD4, SBF2, SH3TC2, LMNA, MTMR2, NDRG1
Specificity
12 %
Genes
100 %
LMNA (CMT2B1) DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

LMNA
Specificity
100 %
Genes
100 %
Lamin A/C (LMNA) DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

LMNA
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 %
Emery-Dreifuss Muscular Dystrophy Advanced Sequencing Evaluation.

By Athena Diagnostics Inc (United States).

SYNE2, SYNE1, TMEM43, EMD, FHL1, LMNA
Specificity
17 %
Genes
100 %

We have 442 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET MESH OMIM Rare Disease Search Engine

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