McLeod syndrome

external

• Synonyms

  • neuroacanthocytosis syndrome

• Causes

  • Male gender
  • XK gene mutation

• Effects

  • Acanthocytosis
  • Absent Kell antigen
  • Muscle weakness
  • Muscle atrophy
  • Chorea
  • Orofacial dyskinesia
  • Vocal tic
  • Seizure
  • Extravascular haemolysis
  • Familial dilated cardiomyopathy
  • Mental retardation

• Parents

  • X-linked recessive disorder
  • Hereditary muscular dystrophy

• Description

  • "assoc with chronic granulomatous disease 150 cases worldwide. Mutations in the XK gene symptoms start after age 50"