Digestive problems: not to be underestimated in Steinert disease

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A study assessed the frequency of gastrointestinal symptoms and their burden in 95 patients with the adult-onset form of Steinert disease.

  • More than half of the patients presented with digestive symptoms and dysphagia exceeding the clinical thresholds of the PROMs (Patient-Reported Outcome Measures) questionnaires used.
  • When asked about the five most debilitating symptoms, 31 per cent of patients spontaneously mentioned a gastrointestinal problem and 13 per cent mentioned dysphagia.
  • Swallowing difficulties were recorded in 59 per cent of the medical records examined, followed by diarrhoea (35 per cent) and constipation (33 per cent).
  • Women are at a higher risk of constipation, diarrhoea and abdominal pain than men. Older age and a longer duration of illness were also associated with a higher risk of certain digestive disorders.

The authors recommend incorporating PROMs questionnaires into the multidisciplinary management of patients.

Gastrointestinal manifestations are common and highly burdensome in patients with adult-onset myotonic dystrophy type 1. Iterbeke L, Ponsaerts , Demedts I et al. Neuromuscular Disorders 2026 Juillet.

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