Charcot-Marie-Tooth disease type 4B1

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Disease Overview

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).


Synonyms

  • CMT 4B
  • CMT 4B1
  • CMT4B1
  • Charcot Marie Tooth disease type 4B1
  • Charcot-Marie-Tooth disease type 4 caused by mutation in MTMR2
  • Charcot-Marie-Tooth disease type 4B1
  • Charcot-Marie-Tooth disease, autosomal recessive, with focally folded myelin sheaths, autosomal recessive, type 4B1
  • Charcot-Marie-Tooth disease, type 4B
  • Charcot-Marie-Tooth disease, type 4B1
  • Charcot-Marie-Tooth neuropathy type 4B1
  • Charcot-Marie-Tooth neuropathy, type 4B1
  • MTMR2 Charcot-Marie-Tooth disease type 4
  • autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1

GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

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OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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National Organization for Rare Disorders