A4V superoxide dismutase mutation in apparently sporadic ALS resembling neuralgic amyotrophy.

[neuralgic amyotrophy]

We report a case of apparently sporadic amyotrophic lateral sclerosis (ALS ) in a young pregnant woman presenting subacutely with severe left shoulder pain followed by progressive weakness and wasting of the left arm , mimicking neuralgic amyotrophy . She was later found electrophysiologically to have widespread denervation involving more than just the arm and an alanine for valine substitution in codon 4 (A 4 V ) in the gene for Cu /Zn superoxide dismutase 1 (SOD 1 ). Her case illustrates that pain on initial presentation , though uncommon , does not exclude a diagnosis of ALS .

Diseases
Validation

Diseases presenting "wasting of the left arm" symptom

neuralgic amyotrophy

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