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GTR Home > Conditions/Phenotypes > Neuropathy, hereditary motor and sensory, type 6B

Neuropathy, hereditary motor and sensory, type 6B

Synonyms
CHARCOT-MARIE-TOOTH DISEASE, TYPE 6B; HMSN VIB; NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY; Neuropathy, hereditary motor and sensory, type VIB

Summary

Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals may also have cerebellar or pontocerebellar atrophy on brain imaging, and they may show abnormal movements such as ataxia, dysmetria, and myoclonus (summary by Abrams et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of HMSN6, see HMSN6A (601152). [from OMIM]

Available tests

26 tests are in the database for this condition.

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Clinical tests (26 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HMSN6B, PCH1E, SLC25A46
    Summary: solute carrier family 25 member 46

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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