From the Research
The treatment for Brueghel's syndrome primarily involves botulinum toxin injections into the affected muscles, as this approach has been shown to provide significant relief from symptoms. Botulinum toxin type A (such as Botox, Dysport, or Xeomin) is administered in carefully targeted doses to the facial, jaw, and neck muscles experiencing involuntary contractions, with dosing varying by individual but generally ranging from 25-100 units per session depending on the severity and distribution of symptoms 1. Typical treatment involves injections every 3-4 months, as the effects are temporary. Oral medications may be used as adjunctive therapy, including anticholinergics (trihexyphenidyl 2-5mg three times daily), benzodiazepines (clonazepam 0.5-2mg twice daily), or muscle relaxants (baclofen 10-25mg three times daily), which work by reducing muscle activity or affecting neurotransmitters involved in muscle control.
Key Considerations
- The most recent and highest quality study, published in 2018, supports the use of botulinum toxin injections as the primary treatment for Brueghel's syndrome 1.
- Other studies, such as those published in 1990 and 1996, also support the effectiveness of botulinum toxin injections, but may not be as relevant due to their older publication dates 2, 3.
- The study published in 2015 regarding Apert syndrome is not directly relevant to the treatment of Brueghel's syndrome and can be ignored in this context 4.
- The study published in 1981 provides some insight into the condition, but does not offer any treatment recommendations and is therefore not directly relevant to the question at hand 5.
Treatment Approach
- Botulinum toxin injections should be the first line of treatment for Brueghel's syndrome, due to their effectiveness in reducing symptoms and improving quality of life.
- Oral medications and other therapies may be used as adjunctive treatments, but should not be relied upon as the primary treatment.
- In severe cases, surgical interventions such as deep brain stimulation or selective peripheral denervation may be considered, but should only be pursued after other treatment options have been exhausted.