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[The gastrointestinal changes in dystrophia myotonica]
L Bujanda1, A López de Munain, A Alcón
1Servicio de Digestivo, Hospital Ntra. Sra. de Aránzazu, San Sebastián.
Revista Espanola De Enfermedades Digestivas
|January 31, 1998
Summary
Myotonic dystrophy, an inherited disorder, can cause serious gastrointestinal issues like motility problems and pseudo-obstruction. Early recognition and treatment, such as with cisapride, are crucial for managing these digestive complications.
Area of Science:
- Gastroenterology
- Genetics
- Internal Medicine
Background:
- Myotonic dystrophy is an autosomal dominant inherited multisystemic disorder.
- Gastrointestinal disturbances are recognized but often underdiagnosed secondary complications.
Observation:
- Two female patients with myotonic dystrophy (51 and 39 years old) presented with significant gastrointestinal symptoms.
- One patient experienced colonic and esophageal motor dysfunction, organoaxial gastric volvulus, and cholestasis.
- The second patient developed acute colonic pseudo-obstruction.
Findings:
- Myotonic dystrophy can manifest with diverse and severe digestive issues, including motility disorders and gastric volvulus.
- Acute colonic pseudo-obstruction is a potential complication requiring prompt diagnosis.
- Cisapride demonstrated efficacy in treating pseudo-obstruction in one case.
Implications:
- Highlights the importance of considering gastrointestinal involvement in myotonic dystrophy patients.
- Suggests a need for increased awareness among clinicians regarding these secondary digestive complications.
- Emphasizes the potential benefit of pharmacological interventions like cisapride for managing specific gastrointestinal manifestations.