Rare Diseases Symptoms Automatic Extraction

Intermittent peripheral weakness as the presenting feature of pyruvate dehydrogenase deficiency.

[pyruvate dehydrogenase deficiency]

Two unrelated children presenting with episodic isolated peripheral weakness were found to have pyruvate dehydrogenase (PDH) deficiency (OMIM 312170) due to previously undescribed mutations (Pro250Thr, Arg88Cys) in the gene for the E1alpha subunit (PDHA1). Taken in context with the literature, these patients suggest that acute weakness initially resembling Guillain-Barré syndrome is a potentially reversible and probably underdiagnosed manifestation of PDH deficiency and that peripheral nerve function should be evaluated in PDH-deficient patients.

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