Abstract
Cerebrotendinous Xanthomatosis (CTX) is an inherited metabolic disease characterized by an inability to form specific bile acids. Bile acid precursors and cholestanol accumulate in various tissues, resulting in multiple neurologic sequelae. We report a case of a young woman who developed oromandibular dystonia (OMD) due to CTX. Chemodenervation of the affected muscles with botulinum toxin type A (BTX) resulted in a significant improvement in her symptoms. This is the first report of CTX associated dystonias treated with BTX.
| Original language | English |
|---|---|
| Pages (from-to) | 36 |
| Number of pages | 1 |
| Journal | Laryngoscope |
| Volume | 119 |
| Issue number | SUPPL. 1 |
| DOIs | |
| State | Published - 2009 |
| Externally published | Yes |
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