Dystonia: Cases Victor Fung dystonia usually looks indistinguishable from that in degenerative...

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Transcript of Dystonia: Cases Victor Fung dystonia usually looks indistinguishable from that in degenerative...

  • Dystonia: Cases

    Movement Disorders Unit, Department of Neurology, Westmead Hospital & University of Sydney, Sydney, Australia

    Victor Fung

  • Acknowledgements • Movement Disorders Unit

    – Sangamithra Babu – Florence Chang – Ainhi Ha – Mariese Hely (ret) – Samuel Kim – Ivan Lorentz (Emeritus) – Neil Mahant – John Morris (Emeritus) – Nigel Wolfe

    – Russell Dale – Greg DeMoore – Shekeeb Mohammad – Michael Tchan

    • Fellows – Alessandro Fois – Hugo Morales

    Briceno

    2016 – Margaret Kit Kwan

    Ma

    • Nurses – Emma Everingham – Donna Galea – Jane Griffith – David Tsui

    • Referring Neurologists – Peter Brimage – Paul Clouston – Paddy Grattan-

    Smith – Mohammed Shaffi – Shaun Watson

  • Learning Objectives

    • At the conclusion of the activity, participants should be able to:

    1. Identify a patient with movement disorders

    2. Differentiate between Parkinson’s disease and atypical parkinsonism

    3. Understand Movement Disorders through case discussions

  • Assessment of Dystonia: Clinical Challenges

    • How to recognise dystonia?

    • Dystonia due to secondary causes can look similar to idiopathic, non-degenerative disease

    • How to know how far to go with investigations in each patient presenting with dystonia

    • How to make a specific aetiological or genetic diagnosis

  • Diagnostic approach in movement disorders

    • Phenomenology – What kind(s) of involuntary movements are present? – What is the nature of any impairment of movement?

    • Clinical syndrome – What mix of phenomenology is present? – What other neurological or systemic features are present?

    • Aetio-Pathological diagnosis – What are the potential diseases that cause that syndrome?

    • Genetic diagnosis

  • • Phenomenology – “DYSTONIA” - What kind(s) of involuntary movements are present? - What is the nature of any impairment of movement?

    • Syndromic diagnosis – “DYSTONIA” - What mix of phenomenology is present? - What other features are present?

    • Aetio-Pathological diagnosis – “DYSTONIA” - What are the potential diseases that cause that

    syndrome?

    • Genetic diagnosis – “DYSTONIA”

    The same term dystonia is used for differential levels

  • • Phenomenology – “DYSTONIA” - What kind(s) of involuntary movements are present? - What is the nature of any impairment of movement?

    • Syndromic diagnosis – “DYSTONIA” - What mix of phenomenology is present? - What other features are present?

    • Aetio-Pathological diagnosis – “DYSTONIA” - What are the potential diseases that cause that

    syndrome?

    • Genetic diagnosis – “DYSTONIA”

    Syndromic diagnosis in dystonia

  • Dystonia is not a symptom…

    • “I can’t ….”

    • “My neck / arm / leg twists…”

    • “My arm / leg cramps or spasms when I …”

    • Stiffness / cramping / (pain)

    • Tremor / involuntary movement

  • • Dystonia is defined as a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both.

    • Dystonic movements are typically patterned and twisting, and may be tremulous.

    • Dystonia is often initiated or worsened by voluntary action and associated with overflow muscle activation.

  • • Dystonia is defined as a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both.

    • Dystonic movements are typically patterned and twisting, and may be tremulous.

    • Dystonia is often initiated or worsened by voluntary action and associated with overflow muscle activation.

  • Therapy of Movement Disorders: A Case-Based Approach. S Reich & S Factor (eds) Springer 2018

    35 yo, R handed, normal birth & development, 1-2 yr h/o progressive difficulty writing associated with pain over wrist

    moreso than forearm. Negative FH.

  • 35 yo, R handed, normal birth & development, 1-2 yr h/o progressive difficulty writing associated with pain over wrist

    moreso than forearm. Negative FH.

    Therapy of Movement Disorders: A Case-Based Approach. S Reich & S Factor (eds) Springer 2018

    Writer’s cramp - adult onset task-specific focal isolated dystonia

  • Nov 2002

    Apr 2004 Jan 2005

    • 15 yo • idiopathic generalised isolated dystonia from age 5

    “Dystonic movements are typically patterned...”

  • • 54 yo, 9/12 h/o R foot feeling as if it wanted to slip when standing, then progressive difficulty walking, worse on hard surfaces, better on sand & grass, increasingly disabled.

    2008

  • • 54 yo, 9/12 h/o R foot feeling as if it wanted to slip when standing, then progressive difficulty walking, worse on hard surfaces, better on sand & grass, increasingly disabled.

    2008

    Task-specific gait dystonia - Idiopathic lower limb isolated dystonia

  • • Aug 2014: maintains 98% improvement since on tetrabenazine 12.5 daily commenced Mar 2009. Previously worse with levodopa 300mg/day (needed crutches) and confused with benzhexol 3mg daily.

    2014

  • • 41yo, 2 yr h/o abnormal kicking of R leg when walking down stairs, slight feeling that R knee bends more walking up stairs, no problems

    walking on flat. No h/o drug exposure. Normal MRI brain & spine.

  • • 41yo, 2 yr h/o abnormal kicking of R leg when walking down stairs, slight feeling that R knee bends more walking up stairs, no problems

    walking on flat. No h/o drug exposure. Normal MRI brain & spine.

  • • 41yo, 2 yr h/o abnormal kicking of R leg when walking down stairs, slight feeling that R knee bends more walking up stairs, no problems

    walking on flat. No h/o drug exposure. Normal MRI brain & spine.

    Task-specific (downstairs) leg dystonia - adult onset focal isolated dystonia

  • Courtesy Michael Hayes, Sydney, Australia

    2016

  • • 57yo, 17 yr h/o difficulty speaking

  • • 57yo, 17 yr h/o difficulty speaking

    Tongue dystonia (as part of task-specific oromandibular dystonia)

  • 73 yo, 12 mth h/o involuntary R ear movements, painful and distressing, associated with R ant > post neck pain, intermittent

    mild head tremor

  • 2006

    • 22 yo, developmental delay and behavioural disturbance

  • 2008

    • 22 yo, developmental delay and behavioural disturbance, treated with risperidone from 14 yo

  • • Dystonia is defined as a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both.

    • Dystonic movements are typically patterned and twisting, and may be tremulous.

    • Dystonia is often initiated or worsened by voluntary action and associated with overflow muscle activation.

    Can dystonia manifest as tremor without abnormal posturing?

  • 57 yo, 2 yr h/o involuntary twisting of neck to right with posterior right neck pain

  • 78 yo, 7 yr h/o head tremor, stable for last few years.

  • 39 yo, 12 yr h/o involuntary neck twitches associated with post. neck pain, partly suppressed by touching chin or leaning

    head back against wall

  • 81 yo, involuntary truncal movements lasting one week 4 and 2 years ago, now persistent for 6 months. Distressing but not disabling, not present during walking. No medical or psychiatric history.

  • 22 yo with Wilson’s disease

  • Focal isolated dystonia

    • Adult onset focal isolated dystonia most commonly presents as cervical, cranial or upper limb dystonia

    • Focal isolated dystonia can affect almost any part of the body

    • Look for patterned abnormal posture or movement that may be task or position specific, or a geste antagoniste

  • • The syndromes of late adult-onset focal isolated dystonia are usually sporadic without identifiable cause, and rarely progress to generalized dystonia, but can extend to contiguous body regions

  • Isolated dystonia syndromes: Red flags

  • Isolated dystonia syndromes: Role of imaging

    • The phenomenology in idiopathic, non-degenerative dystonia usually looks indistinguishable from that in degenerative disease

    • Most (but not all) dystonia secondary to neurodegenerative disease will have imaging abnormalities

  • 9 yo, onset generalised dystonia aged 2, parents first cousins

  • 7 yo, onset generalised dystonia aged 4, mother has cervical dystonia

  • • 9 yo, onset generalised dystonia aged 2, parents first cousins

    Pantothenate Kinase Associated Neurodegeneration (PKAN)

  • • Phenomenology – “DYSTONIA” - What kind(s) of involuntary movements are present? - What is the nature of any impairment of movement?

    • Syndromic diagnosis – “DYSTONIA” - What mix of ph