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GTR Home > Conditions/Phenotypes > Neuronopathy, distal hereditary motor, type 5B

Neuronopathy, distal hereditary motor, type 5B

Synonyms
DHMN VB; HMN VB; NEURONOPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE VB; NEUROPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE VB; SPINAL MUSCULAR ATROPHY, DISTAL, HARDING TYPE VB

Summary

Autosomal dominant distal hereditary motor neuronopathy-12 (HMND12) is a neurologic disorder characterized by onset in the first or second decade of distal muscle weakness and atrophy, primarily affecting the intrinsic hand muscles, but also affecting the lower legs, resulting in abnormal gait and pes cavus (summary by Beetz et al., 2012). For a discussion of genetic heterogeneity of autosomal dominant distal HMN, see HMND1 (182960). [from OMIM]

Available tests

46 tests are in the database for this condition.

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Clinical tests (46 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C2orf23, DSMA6, HMN5B, HMND12, HMNR6, SPG31, Yip2a, REEP1
    Summary: receptor accessory protein 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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