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

Table 2 Summary of case reports on gastrointestinal disorders in genetic myopathies

Ref.	Title of case report	Condition	Gastrointestinal manifestations	Management	Outcome
Dhaliwal et al[23], 2019	Gigantic Stomach: A Rare Manifestation of Duchenne Muscular Dystrophy	DMD	Severe gastric dilation, gastroparesis	Conservative management	Resolved without surgery
Barohn et al[24], 1988	Gastric Hypomotility in Duchenne’s Muscular Dystrophy	DMD	Acute gastric dilation, intestinal pseudo-obstruction	Autopsy study, gastric emptying tests	Found smooth muscle degeneration
Xie et al[34], 2020	Transaminitis in a Three-year-old Boy with Duchenne Muscular Dystrophy	DMD	Elevated liver enzymes, metabolic dysfunction	Enzyme tests, genetic sequencing	Diagnosed early, no liver damage found
Walsh et al[25], 2011	Progressive dysphagia in limb-girdle muscular dystrophy type 2B	Limb-girdle muscular dystrophy 2B	Progressive dysphagia for solids and liquids	Videofluoroscopy, genetic analysis	Confirmed Dysferlin mutations as the cause
Yoo et al[26], 2022	Clinical Course of Dysphagia in Patients with Nemaline Myopathy	Nemaline myopathy	Swallowing difficulties, aspiration risk	Tube feeding, dysphagia therapy	Improved swallowing over time
Glaser et al[27], 2015	Myotonic dystrophy as a cause of colonic pseudoobstruction: not just another constipated child	Myotonic dystrophy	Chronic intestinal pseudo-obstruction	Colectomy	Successful surgical outcome
Bayoumy et al[28], 2022	Sigmoid Volvulus in Myotonic Dystrophy Type I (Steinert Disease)	DM1 (Steinert disease)	Sigmoid volvulus	Endoscopic decompression	Resolved with conservative management
Dindyal et al[30], 2014	MELAS syndrome presenting as an acute surgical abdomen	MELAS syndrome	Toxic megacolon	Total colectomy	Diagnosis confirmed postoperatively
Sartoretti et al[29], 1996	Intestinal non-rotation and pseudoobstruction in myotonic dystrophy: case report and review of the literature	DM	Acute abdomen, ileus, aspiration pneumonia	Conservative therapy	Avoided surgery, symptoms controlled
Shaker et al[31], 1992	Manometric characteristics of cervical dysphagia in a patient with the Kearns-Sayre syndrome	Kearns-Sayre syndrome	Dysphagia, upper esophageal sphincter dysfunction	Manometry	Confirmed pharyngeal and esophageal dysmotility

DM: Myotonic dystrophy; DMD: Duchenne muscular dystrophy; MELAS: Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes.