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GTR Home > Conditions/Phenotypes > Neuronopathy, distal hereditary motor, autosomal dominant 10

Neuronopathy, distal hereditary motor, autosomal dominant 10

Synonyms
NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE X; Neuronopathy, distal hereditary motor, type X

Summary

Autosomal dominant distal hereditary motor neuronopathy-10 (HMND10) is a neurologic disorder of the peripheral nerves characterized clinically by length-dependent motor neuropathy primarily affecting the lower limbs. Affected individuals have onset of distal muscle weakness and atrophy in early childhood that results in walking difficulties and gait abnormalities. Some have pyramidal signs, including hyperreflexia, suggesting the involvement of upper motor neurons. Electrophysiologic studies are consistent with a neurogenic process. More variable features may include mild intellectual disability, minor gyration defects on brain imaging, foot deformities, and connective tissue defects (1 family) (Capuano et al., 2016; Iacomino et al., 2020). For a discussion of genetic heterogeneity of autosomal dominant distal HMN, see HMND1 (182960). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: ATBFS, EMI, EMILIN, HMN10, HMND10, gp115, EMILIN1
    Summary: elastin microfibril interfacer 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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