Painful brachial plexopathies in SEPT9 mutations: adverse outcome related to comorbid states.

[neuralgic amyotrophy]

Hereditary neuralgic amyotrophy (HNA ), an autosomal dominant disorder associated with SEPT 9 mutation located on chromosome 17 q 25 , causes recurrent painful weakness with sensory disturbances in a brachial distribution . We present electrophysiological , clinical phenotype , and molecular genetic data of three members from a family with HNA with the C 2 62 T SEPT 9 mutation . The degree of motor weakness and recovery is variable within this family . Severity and recovery from motor deficits may have been a function of comorbid medical conditions . To our knowledge , this is the first report to confirm SEPT 9 mutation in a family with suspected HNA .

Diseases
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Diseases presenting "sept9 mutation" symptom

neuralgic amyotrophy

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