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

Charcot-Marie-Tooth disease, axonal, type 2EE

Synonyms
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2EE

Summary

Charcot-Marie-Tooth disease type 2EE (CMT2EE) is an autosomal recessive sensorimotor peripheral axonal neuropathy with onset in the first or second decades of life. The disorder primarily affects the lower limbs and is slowly progressive, sometimes resulting in loss of ambulation, with later onset of upper limb involvement. There is significant distal muscle weakness and atrophy, usually with foot or hand deformities. Skeletal muscle biopsy shows findings of disturbed mitochondrial maintenance. Cognition is unaffected, and chronic liver disease is absent (summary by Baumann et al., 2019). For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT type 2, see CMT2A (118210). [from OMIM]

Available tests

17 tests are in the database for this condition.

Clinical tests (17 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMT2EE, MTDPS6, SYM1, MPV17
    Summary: mitochondrial inner membrane protein MPV17

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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