Sunday, July 9, 2017

Alcohol-sensitive generalized dystonia

Micheli F, Uribe-Roca C, Saenz-Farret M. Alcohol-Sensitive Generalized Dystonia. Clin Neuropharmacol. 2017 Jan/Feb;40(1):48-49.

We report the case of a 29-year-old male patient with a generalized and progressive dystonia that led him unable to stand. Multiple antidystonic treatments were tried without benefit. Alcohol test was positive with a dramatic improvement. To the best of our knowledge, this is the first reported case of generalized dystonia without other clinical manifestations sensitive to alcohol.

From the article:

We report the case of a 29-year-old male patient who came to our center complaining of involuntary movements that impeded many of his activities of daily living. He had no relevant family history, and his medical history was unremarkable. He started 8 years ago with abnormal posturing of his left leg while walking or running, and he progressively required assistance to walk. Six years later, the trunk was involved, and he became unable to walk or stand.

Upon examination, he presented sustained muscle contractions of the left leg and trunk causing repetitive and patterned movements consistent with generalized dystonia. The remainder of the physical examination was unremarkable.

Viral serology was negative for retroviruses (HTLV 1 and 2) and for hepatitis B and C. Brain and spinal magnetic resonance imaging with contrast media was normal. Screening for Wilson disease including ceruloplasmin and 24-hour urinary copper excretion were normal, and there were no Kayser-Fleischer rings. Genetic test for DYT 1 was negative.

Treatment with antidystonic drugs was started without improvement with any of the following schemes including levodopa for 2 months (dose reached 500 mg), trihexyphenidyl 15 mg daily for 2 months, and levetiracetam in doses up to 3 g for 2 months. Other ineffective treatments included biperiden, propranolol, and botulinum toxin injections. Carbamazepine 400 mg/d worsened dystonia. As the patient mentioned the improvement he experienced when drinking wine, an alcohol test, with half a glass of red wine, was made with dramatic improvement of the dystonic movements.

The background about this topic is a case by Gudin et al who reported a patient with alcohol-sensitive idiopathic torsion dystonia accompanied by myorhythmia. Perhaps, the best known disorder involving alcohol-sensitive dystonia is M-D, a disorder characterized by a combination of myoclonic jerks and mild to moderate dystonia affecting both the lower and upper limbs. It is related to epsilon-sarcoglycan (SGCE) gene mutations in approximately half of the cases.

Myoclonus dystonia is rare and occurs as both a hereditary and sporadic condition. Both forms are relatively resistant to drug treatment, but the autosomal-dominantly inherited form is usually responsive to alcohol. Although myoclonus and dystonia are the main features of M-D, a novel mutation in the SGCE gene causing M-D extended the phenotype of M-D to also include alcohol-induced dystonia...

For treatment purposes, independently of the exact categorization of the dystonic disorder, it would be interesting that, in dystonic patients with no effective response to antidystonic treatment, a test of alcohol should be tried. Alcohol will not be prescribed as a treatment, but it would be interesting to analyze the effect of long chain alcohol such as 1-Octanol, which has been showed to be beneficial in essential tremor.

In addition, the relationship between alcohol3 and deep brain stimulation responsiveness should be analyzed because patients with M-D seem to be well controlled with pallidal deep brain stimulation.

Courtesy of a colleague

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