Association Between Longstanding Constipation and Muscular Dystrophy/Mitochondrial Disorders

Muscular Dystrophy and GI Dysfunction

Duchenne muscular dystrophy (DMD) is linked to GI smooth muscle dysfunction, which can manifest as gastroparesis, intestinal dysmotility, and constipation 1

Mitochondrial disorders are relatively common in patients with chronic intestinal pseudo-obstruction (CIPO), with one study showing 19% of adult patients had mitochondrial disorders 2
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is characterized by severe gastrointestinal dysmotility, with recurrent diarrhea and symptoms of obstruction 2
Patients with MNGIE typically present between the first and third decade of life and have gastrointestinal dysmotility as the most prominent manifestation 2

Initial screening tests should include screening for hypothyroidism, coeliac disease, and diabetes, as well as assessing for proximal muscle weakness and checking muscle enzyme levels 3
Specific tests for mitochondrial disorders include plasma and urine thymidine and deoxyuridine, white blood cell thymine phosphorylase, and testing for the TYMP gene 3

Patients with DMD require special attention to GI function, particularly in perioperative settings, as they may have increased risk of complications 1
Management approaches for patients with DMD include bowel regimens to avoid and treat constipation, consideration of prokinetic GI medications, gastric decompression with a nasogastric tube, and nutritional support if oral feeding is compromised 1

Constipation alone is not diagnostic of muscular dystrophy or mitochondrial disorders, and additional neurological or systemic symptoms should be looked for 2
Medications used to treat other symptoms in these patients can exacerbate constipation 1
Mitochondrial disorders are often underdiagnosed and should be considered in patients with unexplained constellation of symptoms involving seemingly unrelated organs 7