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GTR Home > Conditions/Phenotypes > Neuronopathy, distal hereditary motor, autosomal recessive 5

Summary

HMNR5 is an autosomal recessive neurologic disorder characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes due to impaired function of motor nerves. Sensation and cognition are not impaired (summary by Blumen et al., 2012). For a discussion of genetic heterogeneity of autosomal recessive HMN, see HMNR1 (604320). [from OMIM]

Available tests

31 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: CMT2T, DSMA5, HMNR5, HSJ-1, HSJ1, HSPF3, DNAJB2
    Summary: DnaJ heat shock protein family (Hsp40) member B2

Clinical features

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