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GTR Home > Conditions/Phenotypes > Neuronopathy, distal hereditary motor, autosomal recessive 8

Neuronopathy, distal hereditary motor, autosomal recessive 8

Synonyms
NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 8; SORBITOL DEHYDROGENASE DEFICIENCY; Sorbitol dehydrogenase deficiency with peripheral neuropathy

Summary

Autosomal recessive distal hereditary motor neuronopathy-8 (HMNR8), or sorbitol dehydrogenase deficiency with peripheral neuropathy (SORDD), is characterized by onset of distal muscle weakness mainly affecting the lower limbs and resulting in difficulty walking. Onset of symptoms is usually in the first or second decades of life, although later adult onset has been reported; the disorder is slowly progressive. Nerve conduction velocities are most consistent with an axonal process. More variable features include distal sensory impairment, upper limb tremor, and scoliosis. Laboratory studies show increased serum sorbitol (summary by Cortese et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive HMN, see HMNR1 (604320). [from OMIM]

Available tests

2 tests are in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Research tests

Genes See tests for all associated and related genes

  • Also known as: HEL-S-95n, HMNR8, RDH, SDH, SORD1, SORDD, XDH, SORD
    Summary: sorbitol dehydrogenase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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