From the Research
Charcot-Marie-Tooth disease, Sorby type (CMT-SORD) should be diagnosed through a combination of clinical evaluation, genetic testing, and sometimes nerve conduction studies, with treatment focusing on aldose reductase inhibitors like epalrestat and govorestat, alongside supportive care including physical therapy, occupational therapy, and pain management. The diagnosis of CMT-SORD specifically requires identification of biallelic pathogenic variants in the SORD gene, which causes sorbitol dehydrogenase deficiency leading to toxic accumulation of sorbitol in peripheral nerves, as highlighted in a study published in 2025 1. Key aspects of diagnosis and treatment include:
- Genetic testing to identify biallelic pathogenic variants in the SORD gene
- Use of aldose reductase inhibitors such as epalrestat (typically dosed at 50-150 mg three times daily) and govorestat (AT-007, dosed at 3000 mg daily for adults) to prevent sorbitol production
- Supportive care including physical therapy to maintain muscle strength and prevent contractures, occupational therapy for adaptive strategies, and orthotic devices like ankle-foot orthoses (AFOs) to improve stability
- Pain management with medications such as gabapentin (300-1200 mg three times daily) or pregabalin (75-300 mg twice daily) for neuropathic pain, as discussed in various studies including those from 2023 and 2024 2, 3 Regular monitoring by a neurologist experienced in hereditary neuropathies is recommended every 6-12 months to assess disease progression and adjust treatment, considering the latest research findings from 2023 and 2025 2, 1. Unlike other CMT types, CMT-SORD has a specific metabolic treatment target, making it one of the few treatable forms of CMT with potential to slow or halt disease progression rather than just managing symptoms, as noted in a case study from 2023 4. Overall, the management of CMT-SORD involves a multidisciplinary approach, including genetic counselors, physical and occupational therapists, physiatrists, orthotists, mental health providers, and community resources, as emphasized in a review from 2016 5.