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Condition report · Neurological

Mitchell Syndrome

A rare neurological condition causing episodes of weakness from nerve damage, along with hearing loss, starting in childhood. It is caused by a specific change in the ACOX1 gene that makes its enzyme overactive.

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The condition we analyse

Autosomal dominant · Only a small number of people have been reported.

Caused by a recurrent gain-of-function change in one copy of the ACOX1 gene (p.Asn237Ser), which increases the activity of a peroxisomal enzyme and leads to oxidative damage to the cells that make the protective coating of nerves. Changes can be de novo or inherited.

Signs and symptoms

Episodes of weakness, loss of reflexes and numbness from a demyelinating peripheral neuropathy, typically beginning in childhood. Hearing loss is common, and brain MRI can show changes in the white matter. Less often there are vision problems or unsteady walking.

What a diagnosis changes

Neurology follow-up, physiotherapy and hearing support, including hearing aids. Antioxidant treatment with N-acetylcysteine has helped some symptoms in individual cases, but there is no established specific treatment. Genetic counselling and parental testing help clarify recurrence risk.

Genes analysed

Also known as

ACOX1 upregulation; MITCH

MONDO:0030073OMIM 618960Orphanet 631248MedGen 1714342Sources: [1][3][2]

References

  1. Shen M, Chen Q, Gao Y, Yan H, Feng S, Ji X et al., 2023. A de novo heterozygous variant in ACOX1 gene cause Mitchell syndrome: the first case in China and literature review. BMC medical genomics
  2. Raas Q, Wood A, Stevenson TJ, Swartwood S, Liu S, Kannan RM et al., 2024. Generation and characterization of a zebrafish gain-of-function ACOX1 Mitchell disease model. Frontiers in pediatrics
  3. Gong Z, Yang S, Ling S, Wang H, Xu X, Lin Z, 2025. Dermatopathological features and successful treatment with topical antioxidant for ichthyosiform lesions in Mitchell syndrome caused by an ACOX1 variant. The Journal of dermatology

Other neurological conditions

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