Saturday, April 21, 2007

Laryngospasm in Kennedy Syndrome

Sperfeld AD et al. Laryngospasm. An underdiagnosed symptom of x-linked spinobulbar muscular atrophy. Neurology 2005;64: 753-4. L is defined as the sudden onset of the sensation of the inability to move air in and out, lasting a few seconds and followed by stridor. It occurred in 23/49 patients surveyed with KS. Itsalso associated with GERD.

Paparounas K. Kennedy disease: insights and conclusions. Arch neurol (correspondence) 2004;61: 603. Distinctive features that are virtually pathognomic of the disease include (in the originally cited article) endocrine features such as gynecomastia. The author states that perioral fasciculations and facial fasciclations are present in 95 % of patients and are "highly characteristic if not pathognomonic." Its not found in any other disease. KD patients also have decreased vibratory sense, especially in the feet, even among patients without sensory dysfunction. The original author responded that perioral fasciculations are a late finding.

The diagnosis of Kennedy syndrome or SBMA (spinal bulbar muscular atrophy) by a simple blood test (Athena) is important because SBMA has a much more benign course with a 10 year survival of 82 % with no PEG use and only rare CPAP use. (Chahin et al. Neurology 2008:70:1967-1971.

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