# Gastrointestinal Manifestations As the Initial Presentation of Neurological Disease

**Authors:** Pravarshini Datla, Sowmya Gopalan, Preetam Arthur

PMC · DOI: 10.7759/cureus.93615 · 2025-09-30

## TL;DR

This paper discusses a rare case where gastrointestinal issues were the first sign of myotonic dystrophy in a young adult.

## Contribution

The novelty lies in highlighting gastrointestinal symptoms as an initial indicator of a neurological disorder.

## Key findings

- Chronic diarrhea was the first symptom of myotonic dystrophy in a young adult.
- The patient had a history of diabetes mellitus and early onset cataract.
- Gastrointestinal symptoms can precede musculoskeletal issues in myotonic dystrophy.

## Abstract

Myotonic dystrophy (MD) is a multi-system autosomal dominant disorder characterised by progressive muscular weakness, with ocular, cardiac, and endocrine involvement. Gastrointestinal manifestations are not a classical feature of myotonic dystrophy and are hence often misdiagnosed if they precede musculoskeletal manifestations. We present a rare case of chronic diarrhoea as the initial manifestation of myotonic dystrophy in a young adult male with a history of diabetes mellitus and early onset cataract.

## Linked entities

- **Diseases:** myotonic dystrophy (MONDO:0016107), diabetes mellitus (MONDO:0005015), cataract (MONDO:0005129)

## Full-text entities

- **Diseases:** chronic diarrhoea (MESH:D003967), autosomal dominant disorder (MESH:D030342), diabetes mellitus (MESH:D003920), muscular weakness (MESH:D018908), Neurological Disease (MESH:D020271), cataract (MESH:D002386), MD (MESH:D009223)

## Figures

5 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12576045/full.md

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Source: https://tomesphere.com/paper/PMC12576045