Charcot-marie-tooth Disease Type 4b1

Table of contents:

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

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).

Genes related to Charcot-marie-tooth Disease Type 4b1

MTMR2

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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

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 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 %
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 Panel complete gene list YARS, PRX, GDAP1, LITAF, FIG4, TRPV4, FGD4, SBF2, SH3TC2, DNM2, HSPB8, EGR2, GARS, GJB1, HSPB1, LMNA, MTMR2, NDRG1, NEFL, PMP22, RAB7A 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 Panel complete gene list SBF1, SLC12A6, SPG11, SURF1, TFG, VCP, YARS, PRX, BSCL2, GDAP1, TRIM2, KIF1B, LITAF, FIG4, MFN2, TRPV4, FGD4, AARS, GNB4, SBF2, COX6A1, DHTKD1, MORC2, INF2, LRSAM1, MED25, PLEKHG5, SH3TC2, DYNC1H1, DNM2, HSPB8, EGR2, GAN, GARS, GJB1, HARS, HINT1, DNAJB2, HSPB1, IGHMBP2, KARS, LMNA, MARS, MME, MPZ, MTMR2, NDRG1, NEFH, NEFL, AIFM1, PDK3, PMP22, PRPS1, RAB7A 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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