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GTR Home > Conditions/Phenotypes > Charcot-Marie-Tooth disease dominant intermediate D

Charcot-Marie-Tooth disease dominant intermediate D

Synonyms
CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE D; CMT DI3; Charcot-Marie-Tooth disease dominant intermediate 3; MPZ-Related Intermediate Charcot-Marie-Tooth Neuropathy
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

A rare hereditary motor and sensory neuropathy with characteristics of 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. [from SNOMEDCT_US]

Available tests

50 tests are in the database for this condition.

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Clinical tests (50 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CHM, CHN2, CMT1, CMT1B, CMT2I, CMT2J, CMT4E, CMTDI3, CMTDID, DSS, HMSNIB, MPP, P0, MPZ
    Summary: myelin protein zero

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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