Rare Diseases Symptoms Automatic Extraction

Painful brachial plexopathies in SEPT9 mutations: adverse outcome related to comorbid states.

[neuralgic amyotrophy]

Hereditary neuralgic amyotrophy (HNA), an autosomal dominant disorder associated with SEPT9 mutation located on chromosome 17q25, causes recurrent painful weakness with sensory disturbances in a brachial distribution. We present electrophysiological, clinical phenotype, and molecular genetic data of three members from a family with HNA with the C262T SEPT9 mutation. The degree of motor weakness and recovery is variable within this family. Severity and recovery from motor deficits may have been a function of comorbid medical conditions. To our knowledge, this is the first report to confirm SEPT9 mutation in a family with suspected HNA.

Diseases presenting "first report" symptom

  • achondroplasia
  • alexander disease
  • aniridia
  • cadasil
  • canavan disease
  • child syndrome
  • cohen syndrome
  • congenital toxoplasmosis
  • cowden syndrome
  • cushing syndrome
  • cutaneous mastocytosis
  • cystinuria
  • dedifferentiated liposarcoma
  • dentinogenesis imperfecta
  • dracunculiasis
  • dystrophic epidermolysis bullosa
  • epidermolysis bullosa simplex
  • erdheim-chester disease
  • esophageal squamous cell carcinoma
  • fabry disease
  • familial mediterranean fever
  • focal myositis
  • harlequin ichthyosis
  • hirschsprung disease
  • hodgkin lymphoma, classical
  • holt-oram syndrome
  • homocystinuria without methylmalonic aciduria
  • inclusion body myositis
  • junctional epidermolysis bullosa
  • kabuki syndrome
  • kindler syndrome
  • krabbe disease
  • lamellar ichthyosis
  • liposarcoma
  • lymphangioleiomyomatosis
  • monosomy 21
  • neonatal adrenoleukodystrophy
  • neuralgic amyotrophy
  • oculocutaneous albinism
  • oligodontia
  • omenn syndrome
  • pendred syndrome
  • pleomorphic liposarcoma
  • primary hyperoxaluria type 1
  • pyomyositis
  • pyruvate dehydrogenase deficiency
  • scrub typhus
  • severe combined immunodeficiency
  • sneddon syndrome
  • triple a syndrome
  • typhoid
  • waldenström macroglobulinemia
  • werner syndrome
  • wiskott-aldrich syndrome
  • x-linked adrenoleukodystrophy
  • zellweger syndrome

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