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GTR Home > Conditions/Phenotypes > Charcot-Marie-Tooth Disease, axonal, type 2GG

Charcot-Marie-Tooth Disease, axonal, type 2GG

Synonyms
Charcot-Marie-Tooth disease dominant intermediate II; Charcot-Marie-Tooth neuropathy, axonal, type 2GG; Charcot-Marie-Tooth neuropathy, type 2GG
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Charcot-Marie-Tooth disease type 2GG (CMT2GG) is an autosomal dominant axonal peripheral neuropathy characterized by slowly progressive distal muscle weakness and atrophy primarily affecting the lower limbs and causing difficulty walking. The onset is usually in adulthood, although rare patients may have mild symptoms from childhood. Some individuals may also have involvement of the hands. Although most patients have hypo- or areflexia at the ankles, distal sensory impairment is not always present, indicating a spectrum of disease encompassing both distal hereditary neuropathy and axonal CMT. Electrophysiologic studies are consistent with a axonal process (summary by Mendoza-Ferreira et al., 2020). For a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210). [from OMIM]

Available tests

1 test is in the database for this condition.

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Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ARF1GEF, CMT2GG, CMTDI2, CMTDIA, GBF1
    Summary: golgi brefeldin A resistant guanine nucleotide exchange factor 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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