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 "weakness" symptom

achondroplasia

adrenomyeloneuropathy

alexander disease

aniridia

aromatase deficiency

coats disease

congenital toxoplasmosis

epidermolysis bullosa simplex

esophageal adenocarcinoma

familial hypocalciuric hypercalcemia

familial mediterranean fever

focal myositis

gm1 gangliosidosis

hydrocephalus with stenosis of the aqueduct of sylvius

inclusion body myositis

locked-in syndrome

lymphangioleiomyomatosis

malignant atrophic papulosis

neuralgic amyotrophy

pendred syndrome

pleomorphic liposarcoma

pyomyositis

pyruvate dehydrogenase deficiency

sneddon syndrome

systemic capillary leak syndrome

thoracic outlet syndrome

triple a syndrome

typhoid

von hippel-lindau disease

waldenström macroglobulinemia

werner syndrome

x-linked adrenoleukodystrophy

This symptom has already been validated