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Charcot-Marie-Tooth disease dominant intermediate D

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Disease Overview

Autosomal dominant intermediate Charcot-Marie-Tooth disease type D 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 axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor.

Synonyms

  • CMTDID
  • Charcot Marie Tooth disease dominant intermediate 3
  • Charcot-Marie-Tooth disease caused by mutation in MPZ
  • Charcot-Marie-Tooth disease dominant intermediate type D
  • Charcot-Marie-Tooth disease, dominant Intermediate type D
  • Charcot-Marie-Tooth disease, dominant intermediate D
  • Charcot-Marie-Tooth neuropathy dominant intermediate D
  • Charcot-Marie-Tooth neuropathy, dominant Intermediate D
  • DI-CMTD
  • Di-Cmtd
  • MPZ Charcot-Marie-Tooth disease
  • MPZ-related intermediate Charcot-Marie-Tooth neuropathy
  • autosomal dominant intermediate Charcot-Marie-Tooth disease type D
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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