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Department of Medicine

MOVEMENT DISORDERS
LEARNING OUTCOMES

At the end of this lecture, students should be able to:


Define movement disorders.
Classify movement disorders based on key clinical features.
Recognise clinical features of hypokinetic and hyperkinetic
movement disorders.
Identify relevant signs and symptoms that may be present in a
patients diagnosed with specific movement disorders.
Discuss appropriate investigations for the workup of a suspected
movement disorders.
Outline broad key management principles and their rationale in the
treatment of specific movement disorders.
DEFINITION

Movement disorders are a group of neurological


conditions that cause abnormal voluntary or involuntary
movements, or slow, reduced movements.

They are characterized by impaired planning, control or


execution of movement.
EPIDEMIOLOGY

Highly variable depending on specific aetiology

See
Hyperkinetic Movement Disorders: Differential Diagnosis
and Treatment. 1st Edition 2012. Edited by Alberto
Albanese, Joseph Jankovic. Wiley Blackwell
Prevalence of neurological conditions across the
continuum of care based on interRAI assessments.
Danila O et al. BMC Health Serv Res 2014 Jan 22;14:29.
doi: 10.1186/1472-6963-14-29
CLASSIFICATION

Aetiology can be:


Idiopathic
Inherited
Secondary/Acquired
Stroke, Infective causes, Medications
Classified by:
1. Hypokinesia
Decreased range, slowness, loss of movement.
2. Hyperkinesia
Extra, excessive movements.
HYPOKINESIAS

Parkinsons Disease
Most Common
Parkinsons Plus
Progressive Supranuclear Palsy
Multiple Systems Atrophy
Cortico-basal Degeneration
Others
Lewy Body Disease
HYPERKINESIAS
Ataxias
Chorea
Dystonia
Myoclonus
Restless Legs
Tardive Dyskinesia
Torticollis
Tourettes
Tremor
Others: Huntingtons Chorea, Wilsons Disease
HYPOKINESIAS
Parkinsons Disease
Chronic, progressive neurodegenerative disorder
characterized by any combination of four cardinal signs:
rest tremor, rigidity, bradykinesia, and gait disturbance

Multiple Systems Atrophy


Degrees of autonomic dysfunction, cerebellar
abnormalities, parkinsonism, and corticospinal
degeneration
HYPOKINESIAS

Progressive Supranuclear Palsy


Steele Richardson Olszewski syndrome
Uncommon Parkinsonian syndrome
Vertical supranuclear gaze palsy and postural instability with
unexplained falls, and cognitive decline

Cortico-basal Degeneration
Progressive asymmetric movement disorder
Various combinations of akinesia, rigidity, dystonia, focal
myoclonus, ideomotor apraxia, and alien-limb phenomena.
HYPERKINESIAS -
Ataxias
Acute Onset
Cerebellar Stroke/Haemorrhage
Trauma
Infection
Neoplasm
Subacute Onset
Atypical infections
Chronic exposure to toxins or medications
Alcohol abuse and vitamin deficiencies (ie: thiamine-Wernickes
Encephalopathy)
Autoimmune disorders
Systemic metabolic disorders
Paraneoplastic cerebellar degeneration
Neoplasms
ATAXIAS

Congenital
Cerebellar aplasia, cerebellar hypoplasia, and congenital
structural abnormalities (Chiari malformations).

Hereditary
Autosomal Dominant
Spinocerbellar Ataxia
Autosomal Recessive
Friedreich's Ataxia
X Linked
Fragile X syndrome
ATAXIAS
Hereditary Spino-cerebellar Ataxia
Progressive cerebellar syndrome
Oculomotor, retinal, pyramidal, extrapyramidal, sensory, and
cognitive/behavioural symptoms
Frederichs Ataxia
Most common hereditary ataxia,.
Progressive gait and limb ataxia
Can get optic atrophy, swallowing dysfunction, upper motor neuron
weakness, loss of position and vibration sense, and peripheral
neuropathy
Associated with cardiomyopathy and diabetes
Typically disease onset age <25 years
GAA trinucleotide repeat disorder
HYPERKINESIAS
Fragile X-associated tremor/ataxia syndrome (FXTAS)
Older men who are carriers of a premutation in the fragile X 1 gene
(FMR1).

Chorea
Hyperkinetic movement disorder
Rapid and unpredictable contractions affecting mostly distal limbs, but
also the face and trunk
Involuntary with variable speed, timing, and direction
Can be idiopathic, hereditary or acquired
Athetosis - slower, writhing movements
Ballism - proximal and large amplitude
HYPERKINESIAS
Dystonias
Involuntary, sustained muscle contractions that result in twisting and
repetitive movements or abnormal posture. [2]
Blepharospasm - focal dystonia involving the orbicularis oculi muscles
+ periocular muscles
Torticollis head pulled to one side
Myoclonus
Brief, shock-like, involuntary movements caused by muscular
contractions or inhibitions
Caused by neurological disorders, epilepsy, medication reactions,
metabolic conditions
Tics
Brief, repeated, stereotyped movements which patients can suppress
for a period of time
Example: Tourettes Syndrome
HYPERKINESIAS
Restless Legs Syndrome
Voluntary leg movements prompted by an urge to move
Associated with unpleasant paraesthesias
Worse at night; relieved by movement.
Involuntary movement of legs at night - Periodic leg movements of
sleep
Tremor
Check frequency, amplitude and exacerbating factors
Resting Parkinsons
Intention Cerebellar
Postural (outstretched hands)-benign essential tremor, thyrotoxicosis
HYPERKINESIAS
Tardive Dyskinesia
Orobuccolingual, truncal or choreiform movements
(grimacing/chewing)
Chronic exposure to antipsychotics/antiemetics (dopamine
receptor blockers)
Huntingtons Disease
Autosomal dominant neurodegenerative disorder characterized
by progressive motor, cognitive, and psychiatric dysfunction. [3]
Choreiform movement predominates with progressive decline in
mobility
Can develop a seizure disorder
Trinucleotide (CAG) repeat on chromosome 4p(Huntington gene)
HYPERKINESIAS
Wilsons Disease
Genetic autosomal recessive disorder where there is impairment
of cellular copper transport
Presents at age 5-35 years
Hepatic, neurologic, and psychiatric symptoms, with many
patients having a combination of symptoms
Neurological Features:
Dystonic spasm of the facial muscles;
chorea; athetosis
Cognitive impairment / dementia
Seizures; hyperreflexia; myoclonia
Urinary incontinence; autonomic dysfunction
INVESTIGATIONS- PRINCIPLES

Determine the type of movement disorder


Clinical picture in combination with tests
Exclude other potential MDs
Look for reversible causes
Metabolic/endocrine abnormalities, infections, vascular
abnormalities, etc
Genetic testing for patient and for family, if confirmed
INVESTIGATIONS
Clinical History and Exam
Medication/Drug history
Full Bloods
Check FBC, U+E, TFTs, Vit B1, B12
ANA / Paraneoplastic antibodies
Neuro-imaging
CT Brain/MRI Brain/DAT scan
Consider LP
Infective/autoimmune pathology suspected
EEG
EMG
Ceruloplasmin, serum copper, and 24-hour urinary copper (Wilsons)
Genetic Testing (Huntingtons Chorea/Friedreichs Ataxia etc)
MANAGEMENT

Dependent on presentation and clinical diagnosis.


Differs for hypokinetic disorders versus hyperkinetic disorders
Parkinsons details in separate Parkinsons disease lecture
Levodopa/MAO-I etc. (See PD lecture)
Parkinsons Plus Syndromes
Trial Levodopa therapy - typically they dont respond as well
to Levodopa
Often have a faster progression of their illness
MANAGEMENT

For hyperkinetic disorders [1]


Withdraw any precipitating medications
Trial Levodopa (Restless Legs Syndrome)
B-blockers / Anticholinergics (Tremor)
Benzodiazepines (Myoclonus)
Baclofen/Tizanidine (Muscle relaxants)
Botulinum Toxin
MCQ 1
A 55 year old man is referred to the Neurology outpatient clinic by his
GP. He has progressively worsening choreiform movements of his
limbs and trunk with associated irritability and low mood. He is no
longer able to work in his job as an accountant. His father died aged
57 having had a similar presentation prior to his death. What is the
most likely diagnosis?
A. Parkinsons disease
B. Wilsons disease
C. Huntingtons disease
D. Spinocerebellar ataxia
E. Multisystem Atrophy

Answer: D
MCQ 2
A 38 year old lady has had a history of neck pain for the past 3 months.
She is now no longer able to move her head in one direction and you
suspect she has torticollis. This is classified as:

A. A choreiform disorder
B. A dystonic disorder
C. A tic disorder
D. A myoclonic disorder
E. An ataxic disorder

Answer: B
MCQ 3

A 20 year old man is referred to the neurology outpatient clinic by his General
Practitioner with progressive mobility issues. He has one brother who is well.
On review, he is ataxic and has slurred speech. On examination there is
evidence of pes cavus. Sensory examination shows a peripheral neuropathy
and plantars are upgoing bilaterally. His blood glucose is also noted to be 15.
What is the most likely diagnosis?
A.Hereditary Spino-cerebellar Ataxia
B.Motor Neuron Disease
C.Charcot-Marie-Tooth Syndrome
D.Marfans Syndrome
E.Friedrichs Ataxia

Answer: E
MEQ
A 62 year old woman who was diagnosed with Parkinsons disease 6 months
ago attends the neurology outpatient clinic. She has not been able to walk for
>10m for the last 3 months and now stays in bed most of the day as a result of
recurrent falls. On exam, she has evidence of rigidity. She is unable to look
upwards on eye movement examination and her husband reports her memory
has declined significantly since her diagnosis. She is taking Sinemet four times
a day with minimal effect.
1. What is the most likely diagnosis? (3 marks)
Progressive Supranuclear Palsy
2. How can this disorder be classified in terms of movement? (3 marks)
Hypokinesia
3. List three other conditions that may be initially diagnosed as
Parkinsons disease (6 marks)
Multiple systems atrophy
Corticobasal degeneration
MEQ

4. List five investigations that can be performed to exclude


other causes of movement disorders (5 marks)
FBC, U+E, TFTs, Vit B1, B12, ANA / Paraneoplastic antibodies
CT Brain/MRI Brain
LP
EEG
EMG
Ceruloplasmin, serum copper, and 24-hour urinary copper
Genetic Testing
MEQ

5. List five management principles in movement disorders


in general. (5 marks)
Withdraw any precipitating medications
Trial Levodopa (Restless Legs Syndrome)
B-blockers / Anticholinergics (Tremor)
Benzodiazepines (Myoclonus)
Baclofen/Tizanidine (Muscle relaxants)
Botulinum Toxin
References
Treatment of hyperkinetic movement disorders. Jankovic J. Lancet Neurol.
2009 Sep;8(9):844-56. doi: 10.1016/S1474-4422(09)70183-8
Phenomenology and classification of dystonia: a consensus update.
Albanese et al. Mov Disord. 2013 Jun;28(7):863-73. Epub 2013 May 6.
Huntington's disease. Walker FO. Lancet 2007 Jan 20;369(9557):218-28
Hankeys Clinical Neurology, 2nd Edition 2014. Chapter 6 Hyperkinetic
Movement Disorders. Taylor Francis
Hyperkinetic Movement Disorders: Differential Diagnosis and Treatment. 1st
Edition 2012. Edited by Alberto Albanese, Joseph Jankovic. Wiley Blackwell
The Graphic Study of Ballism and Related Hyperkinesia. J. R. Whittier, M.D.
Journal of Neuropathology & Experimental Neurology, Volume 11, Issue 3,
1 July 1952, Pages 300316
Prevalence of neurological conditions across the continuum of care based
on interRAI assessments. Danila O et al. BMC Health Serv Res 2014 Jan
22;14:29. doi: 10.1186/1472-6963-14-29