Rare Diseases Symptoms Automatic Extraction

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 (A4V) in the gene for Cu/Zn superoxide dismutase 1 (SOD1). Her case illustrates that pain on initial presentation, though uncommon, does not exclude a diagnosis of ALS.

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