Navigating gastrointestinal challenges in genetic myopathies: Diagnostic insights and future directions

Table 1 Summary of studies on gastrointestinal disorders in genetic myopathies

Ref.	Study title	Population	GI manifestations	Methods	Key findings
Jaffe et al[15], 1990	Symptoms of upper gastrointestinal dysfunction in Duchenne muscular dystrophy: Case-control study	55 DMD patients, 55 controls	Dysphagia, choking, heartburn, vomiting	Case-control study, questionnaire-based assessment	DMD patients had significantly more GI symptoms than controls, especially oropharyngeal dysfunction
Lo Cascio et al[18], 2016	Gastrointestinal Dysfunction in Patients with Duchenne Muscular Dystrophy	33 DMD patients (12-41 years)	Constipation, delayed gastric emptying, prolonged oro-cecal transit time	Questionnaires, gastric emptying time, colonic transit studies	DMD patients had prolonged gastric emptying and colonic transit times, indicating severe GI dysmotility
Lee et al[23], 2020	Relationship between Eating and Digestive Symptoms and Respiratory Function in Advanced Duchenne Muscular Dystrophy Patients	180 advanced DMD patients	Constipation, swallowing difficulty, aspiration	Questionnaires, respiratory function tests	GI symptoms correlated with respiratory function, not age, indicating progressive neuromuscular decline
Borrelli et al[24], 2005	Evolution of gastric electrical features and gastric emptying in children with Duchenne and Becker muscular dystrophy	20 children with DMD/BMD	Delayed gastric emptying, dysrhythmias	Electrogastrography, ultrasonography	DMD patients showed worsening gastric motility over time, BMD patients had milder symptoms
Kansu et al[21], 2023	The frequency of Duchenne muscular dystrophy/Becker muscular dystrophy and Pompe disease in children with isolated transaminase elevation: results from the observational VICTORIA study	589 children with elevated transaminases	Liver dysfunction, metabolic abnormalities	CPK testing, genetic analysis	DMD/BMD diagnosed in 47% of male patients with isolated hypertransaminasemia
Tang et al[22], 2022	Hepatic Steatosis Assessment as a New Strategy for the Metabolic and Nutritional Management of Duchenne Muscular Dystrophy	48 DMD patients	Metabolic syndrome, hepatic steatosis	Liver ultrasound, metabolic assessment	Total 40% of DMD patients had significant hepatic steatosis, increasing with disease progression
Kraus et al[19], 2016	Constipation in Duchenne Muscular Dystrophy: Prevalence, Diagnosis, and Treatment	120 DMD patients (5-30 years)	Functional constipation	Questionnaire, Bristol stool form scale, abdominal radiographs	Total 46.7% had functional constipation, often underdiagnosed and undertreated
Nart et al[20], 2023	Life-threatening bowel complications in adults with Duchenne muscular dystrophy: a case series	Adults with DMD	Colonic pseudo-obstruction, sigmoid volvulus	Case series, clinical review	Emphasized surgical risks and role of home parenteral nutrition
Hilbert et al[16], 2017	High frequency of gastrointestinal manifestations in myotonic dystrophy type 1 and type 2	913 DM1 and 180 DM2 patients	Dysphagia, constipation, cholecystectomy	Patient-reported surveys, medical records	DM1 had higher rates of swallowing issues, while DM2 had more constipation
Tieleman et al[17], 2008	Gastrointestinal involvement is frequent in Myotonic Dystrophy type 2	29 DM2 patients, 29 DM1 patients, 87 controls	Dysphagia, abdominal pain, constipation	Questionnaires, colon transit study	GI dysfunction was as common in DM2 as in DM1, with slow colonic transit in 24%

BMD: Becker muscular dystrophy; DM: Myotonic dystrophy; DMD: Duchenne muscular dystrophy; GI: Gastrointestinal.