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

Charcot-Marie-Tooth disease type 4K

Synonyms
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4K; CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4K; CHARCOT-MARIE-TOOTH NEUROPATHY, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4K
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Charcot-Marie-Tooth disease type 4K (CMT4K) is an autosomal recessive demyelinating peripheral neuropathy characterized by onset in the first decade of distal muscle weakness and atrophy associated with impaired distal sensation. Both upper and lower limbs are affected. Affected individuals may also have nystagmus and late-onset cerebellar ataxia. Laboratory studies show increased serum lactate and isolated mitochondrial complex IV deficiency (summary by Echaniz-Laguna et al., 2013). For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive demyelinating Charcot-Marie-Tooth disease, see CMT4A (214400). [from OMIM]

Available tests

27 tests are in the database for this condition.

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Clinical tests (27 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMT4K, MC4DN1, SHY1, SURF1
    Summary: SURF1 cytochrome c oxidase assembly factor

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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