DYSTONIC DISORDERS

 

DYSTONIC DISORDERS

 

DEFINITION:

A group of disorders characterized by slow, involuntary, repetitive movements causing exaggerated twisting and posturing of the extremities and/or trunk.

EPIDEMIOLOGY:

  • prevalence: 4/10,000
  • age of onset:
    • newborn -> adolescence
  • risk factors:
    • see differential diagnosis

DIFFERENTIAL DIAGNOSIS:

1. Primary

  • 1. Dopa-Responsive Dystonia
  • 2. Idiopathic Torsion Dystonia
  • 3. X-Linked Dystonia-Parkinsonism
  • 2. Secondary

  • 1. Trauma
    • birth asphyxia
    • head trauma
    • peripheral or segmental nerve injury
  • 2. Toxic
    • anticonvulsants (phenytoin, carbamazepine)
    • neuroleptics (phenothiazines)
  • 3. Infectious
    • encephalitis (Subacute Sclerosing Panencephalitis)
  • 4. Genetic/Metabolic
    • GM1 Gangliosidoses
    • Hallervorden-Spatz Disease
    • Niemann-Pick Disease (Late Onset)
    • Rett Syndrome
    • Wilson Disease
  • 5. Miscellaneous
    • Familial Paroxysmal Choreoathetosis
  • CLINICAL FEATURES:

    1. Dystonic Characteristics

    • slow, involuntary, repetitive movements causing exaggerated twisting and posturing of various muscle groups
      • extremities
      • axial musculature
      • cranial and cervical muscles
    • may also involve segmental dystonia
      • writer's cramp
      • blepharospasm
      • buccomandibular dystonia
    • focal, hemidystonic, or generalized

    2. Features Suggestive of Secondary Etiology

    • onset in infancy
    • acute or sudden onset
    • presence of dystonia at rest from onset
    • unilateral involvement or hemidystonia
    • absence of family history of dystonia, tremor, or other movement disorders
    • exposure to risk factors: drugs, trauma, infection

    3. Tics Caused by Birth Asphyxia

    • delayed onset of dystonia - mean age of onset is 12.9 yrs
    • types of dystonia observed:
      • generalized, hemidystonic, segmental brachial
    • tend to evolve into generalized dystonia
    • other associated neurologic manifestations:
      • developmental delay, hyperreflexia, dysmetria, focal weakness
    • respond well to high-dose artane (anti-cholinergic)

    4. Tics Caused by Trauma

    • head, neck, peripheral nerve trauma
    • types of dystonia observed:
      • generalized, hemidystonic, cervical
    • other associated neurologic manifestations:
      • hemiparesis, aphasia, seizures
    • usually respond poorly to medical and surgical therapy

    INVESTIGATIONS:

    1. Serum

    • CBC, ESR, electrolytes, gas, copper, ceruloplasmin
    • ANA, protein electrophoresis
    • serum lactate, pyruvate, amino acids
    • biopterin, homovanillic acid

    2. Urine

    • screen for amino acids, organic acids, and oligosaccharides

    3. Imaging Studies

    • MRI/CT/PET

    4. Others

    • EEG
    • muscle biopsy
    • psychometric testing

    MANAGEMENT:

    1. Primary Dystonias

  • 1. Generalized
  • 1. Carbodopa-Levodopa (Sinemet)
    • initial trial to rule out Dopa-Responsive Dystonia
  • 2. Trihexphenidyl (Artane)
    • for Idiopathic Torsion Dystonia
  • 3. Surgical
    • for patients who failed medical therapy with severe dystonia
    • cryothalamectomy -> lesion in ventrolateral thalamus
  • 2. Localized
  • 1. Medical
    • clonazepam or lorazepam - for cranial & cervical dystonias
    • baclofen - for oromandibular dystonia
    • others - pimozide, tetrabenazine
  • 2. Clostridium botulinum toxin A
    • local injections for cranial, cervical, and other focal dystonias
    • chemodenervation - prevents release of acetylcholine
    • symptomatic benefit for 3-5 months
    • side effects: weakness at site of injection
  • 2. Secondary Dystonias

    • correct underlying disorder
    • remove offending drug - i.e., benadryl 1-2 mg/kg/dose IV
    • treat dystonias

     

     

    Pediatric Database - DYSTONIC DISORDERS

    Pediatric Organization - Pedbase [at] Gmail.com