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

Neuronopathy, distal hereditary motor, autosomal recessive 5

Synonyms
NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 5; Spinal muscular atrophy, distal, autosomal recessive, 5; Young adult-onset distal hereditary motor neuropathy
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

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

25 tests are in the database for this condition.

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Clinical tests (25 available)

Molecular Genetics Tests

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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Imported from Human Phenotype Ontology (HPO)

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