Adult intestinal botulism

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Overview

Adult intestinal botulism (also known as adult intestinal toxemia botulism or adult intestinal colonization botulism) is an extremely rare form of botulism in which Clostridium botulinum (or other botulinum toxin-producing clostridia) colonizes the intestinal tract of an adult and produces botulinum neurotoxin in vivo. This distinguishes it from the more common foodborne botulism, where preformed toxin is ingested, and from infant botulism, which involves intestinal colonization in babies. The condition primarily affects the nervous system, as botulinum toxin blocks acetylcholine release at neuromuscular junctions, leading to descending flaccid paralysis. Risk factors for intestinal colonization in adults include anatomical or functional abnormalities of the gastrointestinal tract, prior intestinal surgery, inflammatory bowel disease, prolonged antibiotic use, or other conditions that disrupt normal gut flora. Key symptoms include progressive symmetric descending weakness, diplopia (double vision), blurred vision, ptosis (drooping eyelids), dysarthria (slurred speech), dysphagia (difficulty swallowing), dry mouth, constipation, and in severe cases, respiratory failure requiring mechanical ventilation. The onset is typically subacute, and symptoms may fluctuate or relapse over weeks to months due to ongoing toxin production in the gut, which is a distinguishing feature from foodborne botulism where symptoms are usually self-limited. Diagnosis is challenging and requires demonstration of C. botulinum colonization in the intestine, typically through stool cultures and detection of toxin in stool over a prolonged period. Treatment includes supportive care, with particular attention to respiratory function, and administration of botulism antitoxin. Prolonged courses of antibiotics directed against C. botulinum (such as metronidazole or oral vancomycin) may be used to attempt eradication of intestinal colonization. In some cases, the condition can be prolonged or relapsing, requiring extended monitoring and repeated treatment. Full recovery is possible but may take weeks to months.

Also known as:

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Diaphragmatic paralysisHP:0006597
Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Adult

Begins in adulthood (age 18 or older)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Adult intestinal botulism.

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No specialists are currently listed for Adult intestinal botulism.

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Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Adult intestinal botulism.

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Community

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Common questions about Adult intestinal botulism

What is Adult intestinal botulism?

Adult intestinal botulism (also known as adult intestinal toxemia botulism or adult intestinal colonization botulism) is an extremely rare form of botulism in which Clostridium botulinum (or other botulinum toxin-producing clostridia) colonizes the intestinal tract of an adult and produces botulinum neurotoxin in vivo. This distinguishes it from the more common foodborne botulism, where preformed toxin is ingested, and from infant botulism, which involves intestinal colonization in babies. The condition primarily affects the nervous system, as botulinum toxin blocks acetylcholine release at ne

How is Adult intestinal botulism inherited?

Adult intestinal botulism follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Adult intestinal botulism typically begin?

Typical onset of Adult intestinal botulism is adult. Age of onset can vary across affected individuals.