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GTR Home > Conditions/Phenotypes > Charcot-Marie-Tooth disease type 4G

Charcot-Marie-Tooth disease type 4G

Synonyms
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4G; Neuropathy, hereditary motor and sensory, Russe type
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

HMSNR is an autosomal recessive progressive complex peripheral neuropathy characterized by onset in the first decade of distal lower limb weakness and muscle atrophy resulting in walking difficulties. Distal impairment of the upper limbs usually occurs later, as does proximal lower limb weakness. There is distal sensory impairment, with pes cavus and areflexia. Laboratory studies suggest that it is a myelinopathy resulting in reduced nerve conduction velocities in the demyelinating range as well as a length-dependent axonopathy (summary by Sevilla et al., 2013). For a discussion of genetic heterogeneity of autosomal recessive hereditary motor and sensory neuropathy, also known as Charcot-Marie-Tooth disease, see CMT4A (214400). [from OMIM]

Available tests

31 tests are in the database for this condition.

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Clinical tests (31 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HK, HK1-ta, HK1-tb, HK1-tc, HKD, HKI, HMSNR, HXK1, NEDVIBA, NMSR, RP79, hexokinase, HK1
    Summary: hexokinase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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