Rare Diseases Symptoms Automatic Extraction

Late-onset presentation of pyruvate dehydrogenase deficiency.

[pyruvate dehydrogenase deficiency]

Two brothers presented in their mid-forties with movement disorders including atypical parkinsonism, choreiform movements, stereotypies, ataxia and dysarthria. Both brothers showed putaminal lucencies on imaging and, in the proband, a deficiency of the pyruvate dehydrogenase complex (PDHC) was found on skin fibroblast assay.

Diseases presenting "ataxia" symptom

  • achondroplasia
  • adrenomyeloneuropathy
  • alexander disease
  • alpha-thalassemia
  • cadasil
  • canavan disease
  • cholangiocarcinoma
  • cystinuria
  • dystrophic epidermolysis bullosa
  • familial mediterranean fever
  • gm1 gangliosidosis
  • homocystinuria without methylmalonic aciduria
  • lamellar ichthyosis
  • locked-in syndrome
  • omenn syndrome
  • phenylketonuria
  • pyomyositis
  • pyruvate dehydrogenase deficiency
  • severe combined immunodeficiency
  • triple a syndrome
  • werner syndrome
  • wolf-hirschhorn syndrome
  • x-linked adrenoleukodystrophy
  • zellweger syndrome

This symptom has already been validated