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GTR Home > Conditions/Phenotypes > Charcot-Marie-Tooth disease axonal type 2H

Charcot-Marie-Tooth disease axonal type 2H

Synonyms
CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, WITH PYRAMIDAL FEATURES, AUTOSOMAL RECESSIVE; CMT 2H; Charcot-Marie-Tooth disease type 2H; Charcot-Marie-Tooth disease, axonal, with pyramidal features, autosomal recessive
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

An axonal peripheral sensorimotor polyneuropathy associated with pyramidal involvement. So far, it has been described in 13 members of a large Tunisian family. Onset occurred during the first decade of life with progressive distal atrophy involving both the upper and lower limbs, associated with a mild pyramidal syndrome (brisk patellar and upper limb reflexes, absent ankle reflexes and unattainable plantar reflexes). Transmitted in an autosomal recessive manner and the disease-causing locus has been mapped to 8q13-21.1. [from SNOMEDCT_US]

Available tests

2 tests are in the database for this condition.

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Clinical tests (2 available)

Molecular Genetics Tests

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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