In a patient with desminopathy (mutation Thr341Pro DES in the heterozygous state) with the progression of the disease, we note signs and symptoms that are also characteristic of botulism: bradycardia, arrhythmia, AV blockade, a significant decrease in the average duration of motor unit potentials according to electroneuromyography, paresis and paralysis of the striated muscles, decreased sweating, paresis of the gastrointestinal tract, dry eyes, dry mouth, symmetry of neurological symptoms, hoarseness, impaired visual acuity, doubling of objects occurs, progressive muscle weakness. These signs and symptoms are characteristic of botulism, only when a case of desminopathy is detected, they proceed slowly.
Botulism and desminopathy are both diseases that affect the neuromuscular junction, but they have different mechanisms of action. Botulism is caused by a toxin that inhibits the release of acetylcholine from the nerve terminals, preventing muscle contraction. Desminopathy is caused by a mutation in the desmin gene, which encodes a protein that forms intermediate filaments in muscle cells. These filaments provide structural support and stability to the muscle fibers. The mutation disrupts the assembly and function of the filaments, leading to muscle degeneration and weakness.
The similarity of botulism and desminopathy symptoms may be explained by the common involvement of the neuromuscular junction, which is essential for transmitting nerve impulses to the muscles. Both diseases can cause flaccid paralysis, cranial nerve palsies, respiratory failure, and cardiac arrhythmias. However, botulism usually has a rapid onset and progression, while desminopathy has a slower and more variable course. Botulism can be treated with antitoxin and supportive care, while desminopathy has no specific treatment and requires symptomatic management.
Botulism and desminopathy (myofibrillar myopathy) are two distinct medical conditions with different underlying causes and mechanisms. While both conditions may affect muscle function, they differ significantly in their etiology and clinical presentation. Here's an explanation of the key differences between botulism and desminopathy:
Botulism:
Desminopathy (Myofibrillar Myopathy):
In summary, while both botulism and desminopathy can affect muscle function, they differ in their underlying causes, mechanisms, clinical presentation, and treatment approaches. Botulism is an acute condition caused by ingestion of the botulinum toxin, whereas desminopathy is a chronic genetic disorder resulting from mutations in the desmin gene. It is important to consult with healthcare professionals for accurate diagnosis and appropriate management of these conditions.
Dear Abdullah S. Seddiek, thank you very much for your detailed answer!
Your analogy is very interesting, dear colleague.
Although the main cause of any form of myofibrillar myopathy is a violation of the structure of the protein components of sarcomeres caused by genetic mutations, why not assume that due to mutations, the sensitivity of the postsynaptic membrane of myofibrils in myofibrillar myopathy to acetylcholine may also be impaired.
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