Autosomal Dominant Charcot-marie-tooth Disease Type 2k

Description

Autosomal dominant Charcot-Marie-Tooth disease, type 2K (CMT2K) is an axonal CMT peripheral sensorimotor polyneuropathy.

Clinical Features

Phenotypes and symptoms related to Autosomal Dominant Charcot-marie-tooth Disease Type 2k

  • Motor delay
  • Skeletal muscle atrophy
  • Gait disturbance
  • Arrhythmia
  • Proximal muscle weakness
  • Distal muscle weakness
  • Distal sensory impairment
  • Peripheral demyelination
  • Decreased nerve conduction velocity
  • Hand muscle atrophy

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 2k Is also known as cmt2k.

Researches and researchers

Doctors, researchs, and experts related to Autosomal Dominant Charcot-marie-tooth Disease Type 2k extracted from public data.

Autosomal Dominant Charcot-marie-tooth Disease Type 2k Experts map



Current Researchs and researchers

  • ESPLUGUES DE LLOBREGAT — Pr Francesc PALAU

    Clinical geneticist - Genetic counsellor - Investigator of research project - Manager of biobank/collection - Coordinator of research network - Director of department

    • Institution/s:
      — Servicio de Neurología, Hospital Sant Joan de Déu Barcelona
      — Hospital Sant Joan de Déu Barcelona
      — Departamento de Genómica y Proteómica, Instituto de Biomedicina de Valencia (CSIC)
      — Servicio de Medicina Genética y Molecular, Hospital Sant Joan de Déu Barcelona
      — Hospital Sant Joan de Déu Barcelona
      — ISCIII - Instituto de Salud Carlos III
    • Research area/topic::

      Pharmacological screening and preclinical trials of Charcot-Marie-Tooth neuropathy due to mutations in GDAP1 (TREAT-CMT: drug)


  • MADRID — Pr Francesc PALAU

    Clinical geneticist - Genetic counsellor - Investigator of research project - Manager of biobank/collection - Coordinator of research network - Director of department

    • Institution/s:
      — Servicio de Neurología, Hospital Sant Joan de Déu Barcelona
      — Hospital Sant Joan de Déu Barcelona
      — Departamento de Genómica y Proteómica, Instituto de Biomedicina de Valencia (CSIC)
      — Servicio de Medicina Genética y Molecular, Hospital Sant Joan de Déu Barcelona
      — Hospital Sant Joan de Déu Barcelona
      — ISCIII - Instituto de Salud Carlos III
    • Research area/topic::

      Pharmacological screening and preclinical trials of Charcot-Marie-Tooth neuropathy due to mutations in GDAP1 (TREAT-CMT: drug)


  • VALENCIA — Pr Francesc PALAU

    Clinical geneticist - Genetic counsellor - Investigator of research project - Manager of biobank/collection - Coordinator of research network - Director of department

    • Institution/s:
      — Servicio de Neurología, Hospital Sant Joan de Déu Barcelona
      — Hospital Sant Joan de Déu Barcelona
      — Departamento de Genómica y Proteómica, Instituto de Biomedicina de Valencia (CSIC)
      — Servicio de Medicina Genética y Molecular, Hospital Sant Joan de Déu Barcelona
      — Hospital Sant Joan de Déu Barcelona
      — ISCIII - Instituto de Salud Carlos III
    • Research area/topic::

      Pharmacological screening and preclinical trials of Charcot-Marie-Tooth neuropathy due to mutations in GDAP1 (TREAT-CMT: drug)


Autosomal Dominant Charcot-marie-tooth Disease Type 2k 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 - 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 %
CMT Advanced Evaluation - Recessive.

By Athena Diagnostics Inc (United States).

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

By Athena Diagnostics Inc (United States).

GDAP1
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 %
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 %

You can get up to 84 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like UNCOMBABLE HAIR SYNDROME 1; UHS1 STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR MALE INFERTILITY WITH AZOOSPERMIA OR OLIGOZOOSPERMIA DUE TO SINGLE GENE MUTATION EPIPHYSEAL DYSPLASIA, MULTIPLE, 3; EDM3 EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS POTOCKI-SHAFFER SYNDROME