Dystonia 101 ( - PowerPoint PPT Presentation


Title: Dystonia 101 (


1
Dystonia 101 ( 102)
  • John Fang, M.D.
  • September 19, 2011

2
Key Topics
  • Types of Dystonia
  • Primary vs. Secondary
  • Dopa-Responsive
  • Kinesigenic
  • Genetic Dystonias
  • Basic Management Strategies

3
Dystonia Vocabulary
  • Blepharospasm
  • Craniocervical (Meige)
  • Oromandibular
  • Focal
  • Segmental
  • Hemi-
  • Generalized
  • Geste Antagonist (Sensory Trick)
  • Tardive
  • e-Sarcoglycan
  • TorsinA
  • Westphal variant
  • Wilsons disease

4
Generalized Dystonia
5
Secondary Dystonia
  • Drug-induced (D2 blockers, flecainide)
  • Structural
  • Psychogenic
  • Toxic (Mn, CO, CS2, Hymenoptera)
  • Metabolic
  • DRD - TH deficiency, sepiapterin, GCH-deficiency
  • Lesch-Nyhan
  • PKAN
  • NBIA

6
Wilsons Disease
  • Excessive copper accumulation due to mutation of
    the ATP7B gene
  • Low ceruloplasmin
  • High urine copper, sometimes requiring
    penicillamine challenge
  • Kayser-Fleischer Rings
  • May affect liver, bone, behavior

7
(No Transcript)
8
Wilsons Disease Treatment
  • Acute treatments
  • Penicillamine
  • Trientene
  • TTMB
  • Long-term treatments
  • Zn
  • low Cu diet
  • Liver transplant

9
Pseudo-Dystonia
  • Atlanto-axial subluxation
  • CN IV palsy
  • Camptocormia (Bent spine)
  • Pleurotonus (Pisa syndrome)

10
Degenerative Dystonias
  • CBD
  • Alien-limb
  • Lubag
  • aka DYT3
  • x-linked
  • Philippines

11
Tyrosine Hydroxylase Deficiency
  • TH converts Tyr to DOPA
  • Tetrahydrobiopterin is cofactor
  • GTP cyclohydrolase (GCH)
  • 6-pyruvoyltetrahydropterin synthase (PTPS)
  • Sepiapterin reductase (SR)
  • Tetrahydrobiopterin also affects metabolism of
    nitric oxide, serotonin, and phenylalanine
  • Sapropterin is FDA approved for PKU

12
Treatment Options
  • Anticholinergics
  • Dopamine agonists or levodopa
  • GABA agonists (A and B, also intrathecal)
  • Other anticonvulsants
  • VMAT inhibitor
  • Botulinum toxins
  • Surgical (Myectomy, SDR, DBS, thalamotomy)

13
Tetrabenazine
  • Inhibits Vesicular Monoamine Transporter 2
  • Typical starting dose 6.25mg bid
  • Typical effective dose 25mg bid
  • Metabolism affected by CYP2D6
  • FDA approved for Huntingtons Chorea
  • Also effective for tardive dyskinesia and some
    dystonias
  • Sleepiness and depression are major SEs

14
Botulinum Toxin
  • Inhibits presynaptic Ach release by destroying
    SNARE proteins
  • Dosing can be tricky
  • FDA approved for cervical dystonia,
    blepharospasm, and a few other disorders
  • Typical duration of action 90-120 days
  • Weakness is the major SE
  • Four current formulations 3 A and 1 B

15
Botulinum Toxin Formulations
  • abobotulinumtoxinA (Dysport)
  • incobotulinumtoxinA (Xeomin)
  • onabotulinumtoxinA (Botox)
  • rimabotulinumtoxinB (Myobloc)

16
Quiz What is the diagnosis?
17
Final Points
  • There are many types and causes for dystonia
  • Do not miss
  • DRD
  • Wilsons disease
  • Pseudo-

18
The End
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Dystonia 101 (

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Dystonia 101 (& 102) John Fang, M.D. September 19, 2011 Key Topics Types of Dystonia: Primary vs. Secondary Dopa-Responsive Kinesigenic Genetic Dystonias Basic ... – PowerPoint PPT presentation

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Transcript and Presenter's Notes

Title: Dystonia 101 (


1
Dystonia 101 ( 102)
  • John Fang, M.D.
  • September 19, 2011

2
Key Topics
  • Types of Dystonia
  • Primary vs. Secondary
  • Dopa-Responsive
  • Kinesigenic
  • Genetic Dystonias
  • Basic Management Strategies

3
Dystonia Vocabulary
  • Blepharospasm
  • Craniocervical (Meige)
  • Oromandibular
  • Focal
  • Segmental
  • Hemi-
  • Generalized
  • Geste Antagonist (Sensory Trick)
  • Tardive
  • e-Sarcoglycan
  • TorsinA
  • Westphal variant
  • Wilsons disease

4
Generalized Dystonia
5
Secondary Dystonia
  • Drug-induced (D2 blockers, flecainide)
  • Structural
  • Psychogenic
  • Toxic (Mn, CO, CS2, Hymenoptera)
  • Metabolic
  • DRD - TH deficiency, sepiapterin, GCH-deficiency
  • Lesch-Nyhan
  • PKAN
  • NBIA

6
Wilsons Disease
  • Excessive copper accumulation due to mutation of
    the ATP7B gene
  • Low ceruloplasmin
  • High urine copper, sometimes requiring
    penicillamine challenge
  • Kayser-Fleischer Rings
  • May affect liver, bone, behavior

7
(No Transcript)
8
Wilsons Disease Treatment
  • Acute treatments
  • Penicillamine
  • Trientene
  • TTMB
  • Long-term treatments
  • Zn
  • low Cu diet
  • Liver transplant

9
Pseudo-Dystonia
  • Atlanto-axial subluxation
  • CN IV palsy
  • Camptocormia (Bent spine)
  • Pleurotonus (Pisa syndrome)

10
Degenerative Dystonias
  • CBD
  • Alien-limb
  • Lubag
  • aka DYT3
  • x-linked
  • Philippines

11
Tyrosine Hydroxylase Deficiency
  • TH converts Tyr to DOPA
  • Tetrahydrobiopterin is cofactor
  • GTP cyclohydrolase (GCH)
  • 6-pyruvoyltetrahydropterin synthase (PTPS)
  • Sepiapterin reductase (SR)
  • Tetrahydrobiopterin also affects metabolism of
    nitric oxide, serotonin, and phenylalanine
  • Sapropterin is FDA approved for PKU

12
Treatment Options
  • Anticholinergics
  • Dopamine agonists or levodopa
  • GABA agonists (A and B, also intrathecal)
  • Other anticonvulsants
  • VMAT inhibitor
  • Botulinum toxins
  • Surgical (Myectomy, SDR, DBS, thalamotomy)

13
Tetrabenazine
  • Inhibits Vesicular Monoamine Transporter 2
  • Typical starting dose 6.25mg bid
  • Typical effective dose 25mg bid
  • Metabolism affected by CYP2D6
  • FDA approved for Huntingtons Chorea
  • Also effective for tardive dyskinesia and some
    dystonias
  • Sleepiness and depression are major SEs

14
Botulinum Toxin
  • Inhibits presynaptic Ach release by destroying
    SNARE proteins
  • Dosing can be tricky
  • FDA approved for cervical dystonia,
    blepharospasm, and a few other disorders
  • Typical duration of action 90-120 days
  • Weakness is the major SE
  • Four current formulations 3 A and 1 B

15
Botulinum Toxin Formulations
  • abobotulinumtoxinA (Dysport)
  • incobotulinumtoxinA (Xeomin)
  • onabotulinumtoxinA (Botox)
  • rimabotulinumtoxinB (Myobloc)

16
Quiz What is the diagnosis?
17
Final Points
  • There are many types and causes for dystonia
  • Do not miss
  • DRD
  • Wilsons disease
  • Pseudo-

18
The End
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