Toxin-mediated infectious botulism

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ORPHA:230800A05.1
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Overview

Toxin-mediated infectious botulism (Orphanet code 230800) is a rare but potentially life-threatening condition caused by the colonization of the gastrointestinal tract by Clostridium botulinum or other botulinum toxin-producing Clostridium species, with subsequent in vivo production and absorption of botulinum neurotoxin. Unlike classical foodborne botulism, where preformed toxin is ingested in contaminated food, this form involves actual infection of the intestinal tract with toxin-producing organisms. It is sometimes referred to as adult intestinal toxemia botulism or adult intestinal colonization botulism, as it represents the adult equivalent of infant botulism. The botulinum neurotoxin blocks the release of acetylcholine at neuromuscular junctions, affecting the peripheral nervous system and leading to descending flaccid paralysis. Key clinical features include symmetric cranial nerve palsies (diplopia, blurred vision, ptosis, dysarthria, dysphagia), progressive descending skeletal muscle weakness, and autonomic dysfunction including constipation, urinary retention, and dry mouth. In severe cases, respiratory muscle paralysis can occur, requiring mechanical ventilation. The condition primarily affects individuals with altered gastrointestinal anatomy or flora, such as those with a history of gastrointestinal surgery, inflammatory bowel disease, or prolonged antibiotic use, which may predispose to intestinal colonization. Treatment involves supportive care, particularly respiratory support, and administration of botulism antitoxin to neutralize circulating toxin. Antibiotics may be used to eradicate the colonizing organism, though aminoglycosides are generally avoided as they may worsen neuromuscular blockade. Recovery can be prolonged, often taking weeks to months, as it depends on the regeneration of new nerve terminals. Early recognition and prompt treatment are critical for improving outcomes and reducing mortality.

Also known as:

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ParalysisHP:0003470Diaphragmatic paralysisHP:0006597MydriasisHP:0011499
Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Toxin-mediated infectious botulism.

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No specialists are currently listed for Toxin-mediated infectious 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 Toxin-mediated infectious botulism.

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Community

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Common questions about Toxin-mediated infectious botulism

What is Toxin-mediated infectious botulism?

Toxin-mediated infectious botulism (Orphanet code 230800) is a rare but potentially life-threatening condition caused by the colonization of the gastrointestinal tract by Clostridium botulinum or other botulinum toxin-producing Clostridium species, with subsequent in vivo production and absorption of botulinum neurotoxin. Unlike classical foodborne botulism, where preformed toxin is ingested in contaminated food, this form involves actual infection of the intestinal tract with toxin-producing organisms. It is sometimes referred to as adult intestinal toxemia botulism or adult intestinal coloni