Movement Disorders (Hon)

Question 1

Movement disorders are generally classified into what two types?

Answer 1

Bradykinetic

Hyperkinetic

Question 2

What are some bradykinetic disorders (akinetic rigid syndromes)?

Answer 2

Most common is parkinsonism which encompasses many disorders:
Idiopathic Parkinson’s disease
Postencephalitic (Von economo’s encephalitis)
Toxin-induced (manganese, canbon disulfide, carbon monoxide)
MPTP (meperidine analogue)

Others:
Progressive supranuclear palsy (PSP)
Shy-Drager syndrome (Multiple systems atrophy (MSA))
Cortical basal (ganglionic) degeneration (CBD)

Question 3

What causes idiopathic Parkinson’s disease?

Answer 3

Depletion of dopamine in nigrostriatal system, disrupting balance of dopamine and acetylcholine

Question 4

What are the cardinal features of idiopathic Parkinson’s disease?

Answer 4

Tremor:

• resting tremor often unilateral at first
• “pill-rolling” quality
• may see mouth or chin tremor

Rigidity:

• increased resistance to passive movement
• cogwheel quality

Bradykinesia:

• slowness of movement
• often difficulty initiating movement

Question 5

What are other clinical features (not cardinal features) of idiopathic Parkinson’s disease?

Answer 5

Postural instability (inability to correct change in balance/posture)
Hypophonia
Hypomimia (masked facies, reptilian stare)
Decreased frequency of eye blink
May see Myerson’s sign (repetitive tapping on forehead leads to sustained blink response)
Gait disturbance (typically slow, stooped forward posture; small steps; may have festinating quality)
Many have dysautonomia (orthostatic hypotension, incontinence, impotence, anhydrosis)
Many will develop dementia

Question 6

Describe progressive supranuclear palsy (PSP)

Answer 6

Bradykinesia and rigidity

Loss of voluntary control of eye movements (especially vertical gaze)

Question 7

Describe Shy-Drager Syndrome (Multiple System Atrophy)

Answer 7

Bradykinesia and rigidity

Pronounced autonomic dysfunction

Question 8

Describe Cortical Basal (Ganglionic) Degeneration (CBD)

Answer 8

Characterized by both cortical and basal ganglionic dysfunction
Bradykinesia and rigidity
May also see cortical sensory loss, apraxia, myoclonus, aphasia

Question 9

Describe anti-parkinsonian treatment

Answer 9

Dopamine agonists (bromocriptine, pergolide, pramipexole, ropinirole)
Levodopa (Sinemet)
COMT inhibitors (COMTAN)
Anticholinergics (benzotropine, trihexyphenidyl)
MAO-B inhibitor (selegiline)
Amantadine
Surgery: most common is Deep Brain Stimulation (DBS)

Question 10

Define chorea

Answer 10

Irregular, brief, “dancelike” movements

May be incorporated into purposeful movements

Question 11

Define athetosis

Answer 11

Writhing, sinous movements (often occur in combination with chorea)

Question 12

Define dystonia

Answer 12

Sustained muscle contractions that produce twisting and repetitive movements and abnormal postures

Question 13

Define ballism

Answer 13

Large amplitude, flinging movement, usually from proximal part of extremity

Question 14

Define tic

Answer 14

Brief, rapid, repetitive, seemingly purposeless stereotyped action that may involve single or multiple muscle groups

Question 15

Describe Huntington’s disease

Answer 15

Gradual onset and progression of chorea and dementia caused by inherited trinucleotide repeat gene defect on chr 4
Autosomal dominant inheritance, so offspring of affected person has 50% chance of inheriting disease
Prevalence is 5 per 100,00
Symptoms generally begin between age 30-50 with avg lifespan 15 yr after onset of symptoms
Genetic testing provides accurate and definitive means to establish diagnosis. Caution: multiple ethical issues!
No known prevention or cure

Question 16

Describe Sydenham’s chorea

Answer 16

Occurs mainly in children and adolescents as a complication of previous infection with group A hemolytic streptococcus. May be a form of arteritis
Characterized by unilateral choreiform movements which when mild can be confused for restlessness or fidgeting. May also behavioral changes
Treatment: bedrest and antibiotics

Question 17

Describe Idiopathic Torsion Dystonia

Answer 17

Characterized by dystonic movements and postures without other signs
May be inherited as AD, AR, or X-linked recessive disorder
Onset may be in childhood or later life but remains throughout life

Question 18

Describe Idiopathic Torsion Dystonia

Answer 18

May see a variety of findings
Torticollis (cervical dystonia): neck twisted to one side
Blepharospasm: spontaneous involuntary forced closure of eyelids
Oromandibular dytonia: spasms of muscles around mouth
Arm may be held in hyperpronated position with wrist flexed and fingers extended
Leg may be held in extension with pronation and inversion of foot

Question 19

Describe treatment of Idiopathic Torsion Dystonia

Answer 19

Low doses levodopa
Anticholinergics
Benzodiazepines
Neuroleptic drugs
Baclofen
Carbamazepine

Question 20

Describe Focal Torsion Dystonia

Answer 20

Dystonia confined to a focal area
Blepharospasm
Oromandibular dystonia
Spasmodic torticollis
Writer’s cramp: dystonic posturing of hand and forearm when used for specific task like writing, using tools or utensils
Medications as for Idiopathic Torsion Dystonia
BOTOX injections may be helpful to weaken involved. Probably treatment of choice for this

Question 21

Describe Wilson’s Disease

Answer 21

Autosomal recessive disorder of copper metabolism that produces neurologic and hepatic dysfunction, localized to chr 13
Decreased binding of copper to cerruloplasmin leading to large amounts of free copper deposited into tissues
Usually presents in childhood or young adult life

Question 22

Describe diagnosis of Wilson’s disease

Answer 22

Based on history, exam findings
Increased amounts of copper excretion in 24 hr urine collection
Decreased serum cerruloplasmin level
Kayser-Fleischer Ring on eye exam

Question 23

What are the clinical features of Wilson’s disease?

Answer 23

Both bradykinetic and hyperkinetic features
Resting or postural tremor
Choreiform movements
Rigidity
Bradykinesia
Dysarthria, dysphagia
Ataxia
Personality/behavioral changes
Dementia
Psychosis/hallucinations

Question 24

What is the treatment of Wilson’s disease?

Answer 24

Penicillamine (copper chelating agent)

Restriction of dietary copper

Question 25

What are tic disorders?

Answer 25

Single motor tics (blinking, coughing, throat clearing) often occur as a benign entity

Gilles De La Tourette’s syndrome: chronic multiple motor and vocal tics with onset before age of 21

Question 26

Describe Gilles De La Tourette’s Syndrome

Answer 26

Most cases are sporadic
More common in males
Vocal tics vary in presentation but can involve barks, hisses, grunts, throat clearing, coughing among others
May also see:
-Coprolalia (vulgar or obscene speech)
-echolalia (parroting speech of others)
-echoproxia (imitation of others’ movements)
-palillalia (repetition of words or phrases)

Question 27

Describe treatment of Gilles De La Tourette’s Syndrome

Answer 27

Clonidine
Haldol
Phenothiazines

Question 28

Describe clinical presentation of Essential Tremor (Benign Familial Tremor)

Answer 28

Postural or kinetic tremor of both hands and may involve head or voice
Can begin in early adulthood but often not until later in life
Usually progresses slowly over years to decades
Usually does not result in significant disability, but social embarrassment is common
As disease progresses, can get impaired coordination
Alcohol often decreases tremor temporarily

Question 29

What is the treatment for Essential Tremor (Benign Familial Tremor)?

Answer 29

Beta blockers (propranolol)
Primidone
Benzodiazepines
Deep brain stimulation (DBS)