From the Guidelines
Visceral myopathy is a rare disorder characterized by abnormal muscle function in the internal organs, particularly those in the digestive tract, leading to impaired movement and contraction, and is often associated with congenital or acquired conditions affecting the smooth muscles of hollow organs like the esophagus, stomach, intestines, and bladder. This condition can be primary, with multi-visceral involvement, or secondary to a muscular disease, such as muscular dystrophy, as noted in studies 1. Patients with visceral myopathy typically experience symptoms such as severe constipation, intestinal pseudo-obstruction, abdominal pain, bloating, nausea, and vomiting. The underlying cause involves dysfunction in the smooth muscle cells or the nerves that control them, resulting in poor coordination of muscle contractions needed for proper organ function, as discussed in 1.
Key Characteristics
- Visceral myopathy can be congenital or acquired
- It affects the smooth muscles of hollow organs
- Symptoms include severe constipation, intestinal pseudo-obstruction, abdominal pain, bloating, nausea, and vomiting
- Treatment focuses on symptom management, including dietary modifications, medications to improve gut motility, anti-nausea medications, and pain management, as suggested in 1.
Associated Conditions
- Muscular dystrophies
- Myofibrillar myopathies
- Hereditary inclusion body myopathies
- Metabolic storage disorders, which may have a myopathic process and occasionally can be treated with specific enzyme replacement therapy, as mentioned in 1.
Management
- Treatment should focus on symptom management rather than cure, including dietary modifications, medications to improve gut motility like prokinetics (metoclopramide, erythromycin), anti-nausea medications, and pain management, as recommended in 1.
- In severe cases, patients may require nutritional support through feeding tubes or intravenous nutrition.
- Awareness of associated conditions, such as muscular diseases, is necessary for proper management, as noted in 1.
From the Research
Definition and Causes of Visceral Myopathy
- Visceral myopathy is a disease characterized by severe visceral smooth muscle dysfunction, preventing efficient movement of air and nutrients through the bowel, impairing bladder emptying, and affecting normal uterine contraction and relaxation 2.
- The causes of visceral myopathy are often genetic, with mutations in contractile apparatus cytoskeletal proteins being a common cause 2, 3.
- Visceral myopathy can manifest as chronic intestinal pseudo-obstruction (CIPO) or megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) 2, 3.
Clinical Syndromes and Symptoms
- Visceral myopathy can cause a range of symptoms, including vomiting, abdominal distention, abdominal pain, and weight loss 4, 5.
- Patients with visceral myopathy may also experience recurrent episodes of abdominal bloating, feeding difficulties, and require long-term parenteral nutrition support 3, 5.
- The disease can affect the digestive and renal systems, and may require repeated gastrointestinal surgery 3, 5.
Diagnosis and Treatment
- Diagnosis of visceral myopathy can be made through a combination of clinical evaluation, imaging studies, and biopsy 5, 6.
- Treatment options for visceral myopathy are limited, and may include prokinetic agents, venting gastrostomy, and total parenteral feeding 5.
- Antibiotic treatment of small intestinal bacterial overgrowth and selected surgical procedures may occasionally be palliative 4.