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GTR Home > Conditions/Phenotypes > Neuronopathy, distal hereditary motor, type 2D

Neuronopathy, distal hereditary motor, type 2D

Synonyms
HMN IID; NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 6; NEURONOPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE IID; NEUROPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE IID; SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL DOMINANT, CALF-PREDOMINANT

Summary

Autosomal dominant distal hereditary motor neuronopathy-6 (HMND6) is a neurologic disorder characterized by onset of slowly progressive distal lower limb weakness and atrophy between the second and fourth decades of life. Weakness usually begins in the calf muscles and later involves more proximal muscles. The severity is variable, and some patients have difficulty walking or running. Most also have upper limb involvement, particularly of the triceps and intrinsic hand muscles. Some patients may lose independent ambulation later in the disease course. Sensory impairment is typically not present, and cognition and bulbar function are normal (summary by Sumner et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant distal HMN (dHMN), see HMND1 (182960). [from OMIM]

Available tests

12 tests are in the database for this condition.

Clinical tests (12 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: Fbx38, HMN2D, HMND6, MOKA, SP329, FBXO38
    Summary: F-box protein 38

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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