Diagnosis and treatment of enteric neuromuscular diseases

Gastrointestinal symptoms occur in a variety of neuromuscular diseases that may affect the neural access from the brain down to the peripheral nerve. This review addresses the clinical diagnosis of the gastrointestinal manifestations that occur in neuromuscular diseases. Prototypic examples are diabetic autonomic neuropathy, parkinsonism, and scleroderma. However, there is increasing recognition of the importance of disorders of the development of the enteric nervous system. For example, disturbances of the interstitial cells of Cajal (the pacemakers of the intestine) result in neuromuscular disorders and metabolic disorders of oxidative phosphorylation manifest as mitochondrial cytopathies that affect all muscle including the gut. The reviewer will discuss the use of specialized gastrointestinal measurements to detect dysfunction of different regions of the gut, including transit, volumetric measurements of the stomach, and manometry. The principles of management are treatment of the neurological disease itself, support of hydration and nutrition, symptom relief, suppression of bacterial overgrowth, correction of dysmotility with selective agonists and antagonists of neurotransmitter receptors and neurotrophic factors, and, rarely, surgery.