Gastrointestinal Manifestations As the Initial Presentation of Neurological Disease
Pravarshini Datla, Sowmya Gopalan, Preetam Arthur
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.
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.
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Taxonomy
TopicsNeurological and metabolic disorders · Genetic Neurodegenerative Diseases · Hereditary Neurological Disorders