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

Charcot-Marie-Tooth disease axonal type 2X

Synonyms
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2X; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2X
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Charcot-Marie-Tooth disease type 2X (CMT2X) is an autosomal recessive, slowly progressive, axonal peripheral sensorimotor neuropathy characterized by lower limb muscle weakness and atrophy associated with distal sensory impairment and gait difficulties. Some patients also have involvement of the upper limbs. Onset usually occurs in the first 2 decades of life, although later onset can also occur (summary by Montecchiani et al., 2016) For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210). [from OMIM]

Available tests

30 tests are in the database for this condition.

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Clinical tests (30 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ALS5, CMT2X, KIAA1840, SPG11
    Summary: SPG11 vesicle trafficking associated, spatacsin

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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