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Understanding Treatment Options for KMT2B-Related Dystonia

In our earlier post (Understanding KMT2B‑Related Dystonia), we covered the basics of this ultra-rare neurological disorder. Today, let’s take a closer look at two of the most talked-about treatment options: anticholinergic medicationsand deep brain stimulation (DBS). What do they do? Who do they help? And what should you know before considering either?

Anticholinergics: First-Line Medications

Anticholinergic drugs like trihexyphenidyl work by blocking the action of acetylcholine—a neurotransmitter that’s often overactive in dystonia. They’re commonly prescribed as a first attempt to control motor symptoms.

Studies show up to 50% of KMT2B patients benefit from anticholinergics (NCBI).
Others report up to 80% partial responders in broader dystonia cohorts (PMC Study).

However, anticholinergics come with drawbacks:

Side effects like dry mouth, fatigue, confusion
Not all patients respond
Minimal impact on speech, swallowing, or psychiatric symptoms

They’re often a temporary solution, especially in fast-progressing cases.

Deep Brain Stimulation (DBS): When Medication Isn’t Enough

When meds fall short, DBS is often the next step—especially for children with severe motor symptoms. Electrodes are implanted into the globus pallidus interna (GPi) to normalize misfiring motor circuits.

In a key study, 27 of 29 patients with KMT2B dystonia improved dramatically—many regained independent walking (PubMed).
On average, patients showed 42% motor improvement in the first year (Frontiers).
Larger reviews show even more nuanced outcomes based on age and severity (Movement Disorders Journal).

DBS has also shown promise in:

Improving speech in some cases (Frontiers Neurology)
Managing psychiatric symptoms like anxiety and OCD

But it’s not without risk:

Freezing of gait (FOG) can appear years later (arXiv)
Improper stimulation may cause side effects, but these are often reversible (PMC Article)

Comparison Table

Treatment	When It’s Used	How Well It Works	Key Considerations
Anticholinergics	Early intervention	~50% show some benefit	Mild side effects, limited impact on complex symptoms
DBS	Severe or refractory dystonia	~42–80% motor improvement, high DBS success	Surgical risks, best outcomes with early intervention

Final Thoughts

While anticholinergics can be a helpful first step, DBS is currently the most effective tool for improving mobility and quality of life in many KMT2B patients. Both treatments have their place, and families should work closely with a movement disorder specialist to decide what’s best.

Want to understand more about the basics of this disorder? Check out our core post: Understanding KMT2B‑Related Dystonia

Disclaimer: This post is for informational purposes only. I am not a doctor. Please consult a licensed medical provider for diagnosis or treatment decisions.

Have experience with anticholinergics or DBS? Want to share what helped your family? Click here to contact us.

I’m Eric, caregiver to my mom (Addison’s disease) and uncle to a 2-year-old niece diagnosed with KMT2B. I created Awareness4Rare.org to shine light on these underrepresented conditions. Every voice adds strength. If you found value in this post, check out my author site on Amazon. Books by Eric Glas

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