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Charcot-Marie-Tooth disease dominant intermediate B

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Disease Overview

Autosomal dominant intermediate Charcot-Marie-Tooth disease type B is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts.

Synonyms

  • CMTDI1
  • CMTDIB
  • Charcot-Marie-Tooth disease caused by mutation in DNM2
  • Charcot-Marie-Tooth disease dominant intermediate type B
  • Charcot-Marie-Tooth disease, axonal type 2M
  • Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2M
  • Charcot-Marie-Tooth disease, axonal, type 2M
  • Charcot-Marie-Tooth disease, dominant Intermediate B, with neutropenia
  • Charcot-Marie-Tooth disease, dominant Intermediate type B
  • Charcot-Marie-Tooth disease, dominant intermediate B
  • Charcot-Marie-Tooth neuropathy dominant intermediate B
  • Charcot-Marie-Tooth neuropathy, axonal, type 2M
  • Charcot-Marie-Tooth neuropathy, dominant Intermediate B
  • Charcot-Marie-Tooth neuropathy, dominant Intermediate B, with neutropenia
  • Cmtdi1
  • DI-CMTB
  • DNM2 Charcot-Marie-Tooth disease
  • DNM2-related intermediate Charcot-Marie-Tooth neuropathy
  • Di-CMTB
  • autosomal dominant intermediate Charcot-Marie-Tooth disease type B
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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GeneReviews

GeneReviews has an article on this condition covering diagnosis, management, and inheritance. Each article is written by one or more experts on the specific disease and is reviewed by other specialists. The article contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. The GeneReviews database is managed by the University of Washington.

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