Table 1. Etiology of Blepharospasm

1. Primary Dystonia
   1. Sporadic
   2. Inherited (autosomal dominant)
      • Classic (Oppenheim’s) dystonia (DYT1 - 9q34; ATP-binding protein, TorsinA)
      • Childhood- and adult-onset cranial-cervical-limb dystonia (DYT6 - 8p21-22)
      • Adult-onset cervical and other focal dystonia (DYT7 - 18p)
      • Adult-onset cranial-cervical dystonia (DYT13 - 1p36.13-36.32)
2. Associated with neurodegenerative disorders
   1. Primarily sporadic
      • Parkinson's disease
      • Progressive supranuclear palsy
      • Multiple system atrophy
      • Multiple sclerosis
      • Central pontine myelinolysis
      • Juvenile Parkinsonism-Dystonia
      • Progressive pallidal degeneration
      • Intraneuronal inclusion disease
      • Infantile bilateral striatal necrosis
      • Familial basal ganglia calcifications
   2. Primarily inherited
      1. Dystonia-plus syndromes
         • Atypical autosomal dominant dystonia (not DYT1 gene)
         • Myoclonic dystonia
         • Dopa-responsive dystonia (DRD) (DYT5 - GTP cyclohydrolase I 14q22.1)
         • Rapid-onset dystonia-parkinsonism
         • Early-onset parkinsonism with dystonia
         • X-linked dystonia parkinsonism or Lubag
         • Paroxysmal dystonia-choreoathetosis
         • Wilson disease
         • Tourette syndrome
         • Huntington's disease
         • Hallervorden.Spatz disease
         • Machado-Joseph disease
         • Ataxia telangiectasia
         • Neuroacanthocytosis
         • Olivopontocerebellar atrophy
         • Hereditary spastic paraplegia with dystonia
         • Fragile-X syndrome
3. Associated with metabolic disorders
   1. Amino acid disorders
      • Glutaric acidemia
      • Methylmalonic acidemia
      • Homocystinuria
      • Hartnup's disease
      • Tyrosinosis
   2. Lipid disorders
      • Metachromatic leukodystrophy
      • Ceroid lipofuscinosis
      • Dystonic lipidosis ("sea blue" histiocytosis) Gangliosidoses
      • Hexosaminidase A and B deficiency
   3. Miscellaneous metabolic disorders
      • Mitochondrial encephalopathies: Leigh's disease, Leber's disease
      • Lesch-Nyhan syndrome
      • Triosephosphate isomerase deficiency
      • Vitamin E deficiency
      • Bioterin deficiency
      • Pseudohypoparathyroidism
4. Due to a specific cause
   • Perinatal cerebral injury and kernicterus: athetoid cerebral palsy, delayed onset dystonia
   • Infection: viral encephalitis, encephalitis lethargica, Reye's syndrome, subacute sclerosing panencephalitis, Jakob-Creutzfeldt disease, AIDS, tuberculosis, syphilis, tetanus
   • Collagen vascular disorder
   • Paraneoplastic brainstem encephalitis
   • Cerebral vascular or ischemic injury (stroke)
   • Brain tumor
   • Arteriovenous malformation
   • Head trauma and brain surgery
   • Peripheral trauma
   • Toxins: MN, CO, CS₂, methanol, disulfiram, wasp sting
   • Drugs: levodopa, bromocriptine, antipsychotics, metoclopramide, fenfluramine, flecainide, ergot, anticonvulsants, certain calcium channel blockers
5. Due to an ophthalmologic cause
   1. Reflex blepharospasm
      • Blepharitis, conjunctivitis, "dry eye syndrome", keratitis, iritis, uveitis
      • Albinism, achromatopsia, maculopathies
      • Lesions in the nondominant temporoparietal lobe (Fisher's sign)
   2. Peripherally induced
      • Hemifacial spasm
      • Tic convulsif
      • Bell’s palsy
      • Aberrant facial regeneration with facial synkinesis
      • Hemimasticatory spasm
      • Facial myokymia
      • Schwartz-Jampel syndrome
      • Amyloidosis
      • Oculomasticatory myorhythmia (Whipple’s disease)

Presented at:
20th Annual International Conference and Scientific Symposium of the Benign Essential Blepharospasm Research Foundation
Houston, TX
August 23-25, 2002

Copyright © 2002 by Joseph Jankovic