Gastrointestinal involvement in neuromuscular disorders

Area of Science:

• Neurology
• Gastroenterology
• Genetics

Background:

• Neuromuscular disorders (NMDs) frequently involve the gastrointestinal tract (GIT), though often overlooked.
• Prevalence of GIT involvement in NMDs varies widely, from less than 5% in hereditary neuropathies to 100% in conditions like MNGIE and OPMD.
• GIT complications can be a primary or significant feature in multisystem NMDs, including mitochondrial disorders (MIDs) and myotonic dystrophies.

Purpose of the Study:

• To highlight the significant impact of NMDs on the GIT.
• To review the spectrum of GIT manifestations across various NMDs.
• To emphasize the importance of recognizing and managing GIT involvement in NMDs.

Main Methods:

• Literature review of NMDs with known GIT involvement.
• Analysis of prevalence data for GIT symptoms in different NMD categories.
• Categorization of clinical manifestations and affected GIT regions.

Main Results:

• GIT involvement is prevalent in NMDs, notably in mitochondrial disorders (MNGIE, MELAS, Leigh, Pearson syndromes), myotonic dystrophies, ALS, GBS, and myasthenia.
• Clinical manifestations are diverse, affecting the entire digestive system from the mouth to the rectum, including liver and pancreas.
• Symptoms include dysphagia, nausea, vomiting, reflux, dysmotility, hepatopathy, diabetes, diarrhea, constipation, and fecal incontinence.

Conclusions:

• GIT involvement is a critical, often underappreciated, aspect of many NMDs.
• Recognizing these symptoms is crucial for comprehensive patient management.
• Symptomatic treatments, while diverse, can significantly benefit the course of NMDs.