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GTR Home > Conditions/Phenotypes > Charcot-marie-tooth disease, axonal, type 2DD

Charcot-marie-tooth disease, axonal, type 2DD

Synonyms
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2DD
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Charcot-Marie-Tooth disease type 2DD is an autosomal dominant peripheral sensorimotor neuropathy mainly affecting the lower limbs. Affected individuals have gait impairment due to distal muscle weakness and atrophy. Some patients may also have involvement of the distal upper limbs, resulting in atrophy of the intrinsic hand muscles. The age at onset and severity of the disorder is highly variable, even within families, and those with earlier onset in late childhood or the teenage years tend to have a more severe disease course. Patients remain ambulatory even late in the disease, although some may require orthotic devices (summary by Lassuthova et al., 2018). 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.

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Clinical tests (17 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMT2DD, HOMGSMR2, ATP1A1
    Summary: ATPase Na+/K+ transporting subunit alpha 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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