Micheli F, Uribe-Roca C, Saenz-Farret M. Alcohol-Sensitive
Generalized Dystonia. Clin Neuropharmacol. 2017 Jan/Feb;40(1):48-49.
http://journals.lww.com/clinicalneuropharm/Fulltext/2017/01000/Alcohol_Sensitive_Generalized_Dystonia.10.aspx?cid=HLRP-LWW-2017-MEDPR-AdSales-LundbeckNeurology-Region-Neurology-ProdID-Promo-Email-id=3255687&mkt_tok=eyJpIjoiT0Rnek1ESXdZbVl4WXprMiIsInQiOiJNNldJejNHdzBVOFYzckpWWG1JYnVJVXRcL29udlhXazRMclZQd0xMdEJFNHRkOUFUNFZwM2xjMGdOMlllUzZ0QXV6ZzVXNEwxMVd6QnpIaWhEQ0hWNEN2SWh1MzZIUFE4UlE0V2Y3TnhBYTJEUm5lS0Vwek9NQ3V6ZnloTjZqQXUifQ%3D%3D
Abstract
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.
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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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