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GTR Home > Conditions/Phenotypes > Peripheral motor neuropathy, childhood-onset, biotin-responsive

Peripheral motor neuropathy, childhood-onset, biotin-responsive

Summary

Childhood-onset biotin-responsive peripheral motor neuropathy (COMNB) is an autosomal recessive disorder characterized predominantly by the onset of distal muscle weakness and atrophy late in the first decade of life. The disorder predominantly affects the upper limbs and hands, resulting in difficulties with fine motor skills. Some patients may have lower limb involvement, resulting in gait difficulties. Electrophysiologic studies and muscle biopsy are consistent with chronic denervation with axonal and demyelinating features. Rare patients may have additional neurologic signs, including spasticity, ataxia, and cerebellar signs. Sensation is intact, and patients have normal cognitive development. Treatment with biotin, pantothenic acid, and lipoic acid may result in clinical improvement (Holling et al., 2022). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: COMNB, NERIB, SMVT, SMVTD, hSMVT, SLC5A6
    Summary: solute carrier family 5 member 6

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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