Charcot-marie-tooth Disease Type 4b1

Description

Charcot-Marie-Tooth disease type 4B1 (CMT4B1) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by an early childhood-onset of severe, demyelinating sensorimotor neuropathy, various degrees of complex myelin outfoldings seen on peripheral nerve biopsy, very slow, and often undetectable, nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Other reported features include facial weakness, vocal cord paresis, respiratory difficulties, and skeletal deformities (e.g. chest deformities, claw hands, pes equinovarus).

Clinical Features

Top most frequent phenotypes and symptoms related to Charcot-marie-tooth Disease Type 4b1

  • Scoliosis
  • Motor delay
  • Peripheral neuropathy
  • Talipes equinovarus
  • Proximal muscle weakness
  • Facial palsy
  • Distal muscle weakness
  • Distal amyotrophy
  • Distal sensory impairment
  • Sensory neuropathy

And another 3 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 4b1 Is also known as cmt4b1, charcot-marie-tooth neuropathy, type 4b1, charcot-marie-tooth disease, type 4b, charcot-marie-tooth disease, autosomal recessive, with focally folded myelin sheaths, autosomal recessive, type 4b1, cmt4b.

Researches and researchers

Doctors, researchs, and experts related to Charcot-marie-tooth Disease Type 4b1 extracted from public data.

Charcot-marie-tooth Disease Type 4b1 Experts map



Current Researchs and researchers

  • WINDSOR — Dr Panayiotis O VACRATSIS

    Investigator of research project

    • Institution/s:
      — University of Windsor
    • Research area/topic::

      Molecular mechanisms regulating the myotubularin-related 2 lipid phosphatase mutated in the neuromuscular disorder Charcot-Marie Tooth disease


  • MILANO — Dr Alessandra BOLINO

    Investigator of research project - Coordinator of research network

    • Institution/s:
      — Dipartimento di Biotecnologie, IRCCS Ospedale San Raffaele
    • Research area/topic::

      Functional analysis of the myotubularin-related-2 gene, mtmr2, responsible for Charcot-Marie-Tooth type 4b disease


  • MILANO — Dr Carla TAVEGGIA

    Investigator of research project

    • Institution/s:
      — Dipartimento di Biotecnologie, IRCCS Ospedale San Raffaele
    • Research area/topic::

      Role of prostaglandin D2 synthase in PNS myelination and remyelination



Mendelian

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Charcot-marie-tooth Disease Type 4b1 Recommended genes panels

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

By Athena Diagnostics Inc (United States).

PRX, GDAP1, FIG4, FGD4, SBF2, SH3TC2, MTMR2, NDRG1
Specificity
13 %
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 - 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 %
MTMR2 DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

MTMR2
Specificity
100 %
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 %
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 %
Charcot-Marie-Tooth Hereditary Neuropathy Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SBF1, SLC12A6, SPG11, SURF1, TFG, VCP, YARS, PRX, BSCL2, GDAP1, TRIM2, KIF1B, LITAF, FIG4, MFN2, TRPV4, FGD4, AARS, GNB4, SBF2 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

MESH OMIM ORPHANET Rare Disease Symptoms Checker

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