.

Extrapyramidal system

Extrapyramidal system

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Movement disorders
A movement disorder impairs the regulation of voluntary motor activity without directly affecting strength, sensation or cerebellar function." Movement disorders typically result from diseases of the basal ganglia and can be classified into Akinetic rigid syndromes (Hypokinesia) Parkinson disease and other parkinsonism (Akinesia / bradykinesia and rigidity). Hyperkinesias (Hyperkinesia) (tremor, chorea, athetosis, ballism, tics, dystonia and myoclonus).

Extrapyramidal system

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General concepts
Movement Disorder -Term for a physical sign - Term to describe a specific syndrome/condition Either excess of movement or paucity of voluntary and automatic movements, unrelated to weakness or spasticity Diagnosis of movement disorders requires: - Identify the type and pattern of movement - Isolated or accompanied with other neuro signs - Determine probable etiology

A systematic approach to diagnosis in patients presenting Extrapyramidal system Page: 4.3 with movement disorders

Abdo, W. F. et al. (2010) The clinical approach to movement disorders Nat. Rev. Neurol. doi:10.1038/nrneurol.2009.196

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Distribution Velocity Amplitude Stereotypy Rythmicity Suppressibility Relationship to position, sleep, activity

Characteristics to classify movements

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Extrapyramidal system

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Parkinsonism - Akinesia / Bradykinesia

Impaired initiation of movement (Akinesia) Slowness of movement (Bradykinesia) Reduced amplitude of voluntary movement Slow initiating movement on command Loss automatic movements Short shuffling steps Loss spontaneous movement (gestures) Hypomimina (decreased blink) Hypophonia Aprosody Drool (decreased spontaneous swallow)

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Rigidity
Increased muscle tone to passive motion Present equally in all direction of the passive movement throughout the range of motion Distinguish from spasticity (velocity dependent) Distinguish from paratonia (inability to relax)

Freezing
Motor act halted transiently (several seconds) Agonists and antagonist muscles are simultaneously and isometrically contracting Start hesitation, turning hesitation, destination hesitation, freeze with obstacle

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Movement Disorders

Tics

Movement Disorders

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Tics: rapid lightening-like brief semi-purposeful, repetitive and stereotyped movements. Abnormal movement (motor tics) or abnormal sounds (phonic tics) or both (tourette syndrome) Precede by urge , can be suppressed for various periods of time, inner tension, relieved by increased burst of tics

Movement Disorders

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Primary tic disorder Transient Motor or vocal

15% children (male>female) Mild usually single movement

Secondary tic disorders Drugs

- CNS stimulants: amphetamines,
methylphenidate, pemoline, cocaine -Neuroleptics: tardive tics Levodopa Anticonvulsants: carbamazepine, lamotrigine, phenytoin, phenobarbital

Chronic single tic disorder

Motor or vocal > 1 year

Hereditary: HD, Wilsons, others Adult onset (recurrent) tic Neurodevelopmental disorders Tourette syndrome Perinatal injury, chromosomal Disorders Motor and vocal > 1 year Brain injury
Onset < 21 year old
Stroke, encephalitis, trauma, CO poison

Infections
Sydenhams chorea, PANDAS Postviral encephalitis, lyme, HIV

Myoclonus

Movement Disorders

Page: 18.1

Myoclonus: Sudden brief shock like involuntary purposeless movement from muscle contraction (positive myoclonus) or inhibition (negative myoclonus)
Rhythmic or arrhythmic Generalized, focal or multifocal Stimulus sensitive or action sensitive Symmetric or asymmetrical Involuntary movement no preceding urge as seen in Tic. Arise from any point in neuroaxis Cortex can be associated with seizures Subcortical Brainstem Spinal cord Peripheral nerve

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Physiologic hypnic jerk, hiccup, benign infantile myoclonus Epileptic epilepsia partialis continua, infantile spasms, juvenile myoclonic epilepsy Progressive myoclonic epilepsy inborn errors metabolism, lysosomal storage diseases, mitochondrial disorders, etc.
Heterogeneous group of disorders characterized by epilepsy, myoclonus, progressive neurological deterioration

Differential diagnosis of Myoclonus

Symptomatic

Post hypoxic Post traumatic Myoclonic dementias CJD, AD, LBD Toxic Metabolic Drug induced Post infectious Inflammatory Neurodegenerative basal ganglia disorders (CBGD, PD,
HD, MSA)

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Ataxia

Disease Name

Populatio n Frequenc y

Onset (Range in Years)

Duratio n (Years)

Ataxia

Page: 5.1

Distinguishing Features

Friedreich ataxia (FRDA)

1-2/50,000

1st - 2nd decade (4-40)

10 - 30

Hyporeflexia, Babinski responses, sensory loss, cardiomyopathy Telangiectasia, immune deficiency, cancer, chromosomal instability, increased alpha-fetoprotein

Ataxia-telangiectasia (A-T)

1/40,000 to 1/100,000

1st decade

10 - 20

Ataxia with vitamin E deficiency (AVED)

Rare

2-52 years, usually <20

Decad es

Similar to FRDA, head titubation (28%)

Ataxia with oculomotor apraxia type 1 (AOA1) Ataxia with oculomotor apraxia type 2 (AOA2)

Unknown

Childhood

Decad es

Oculomotor apraxia, choreoathetosis, mild mental retardation, hypoalbuminemia Cerebellar atrophy, axonal sensorimotor neuropathy, oculomotor apraxia

Unknown

10-22 years

Decad es

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Friedreich ataxia (FA, FRDA)

Friedreich ataxia (FA, FRDA) is an autosomal recessive ataxia resulting from a mutation of a gene locus on chromosome 9. It accounts for at least 50% of cases of hereditary ataxias in most large series. Cardinal features include progressive limb and gait ataxia, dysarthria, loss of joint position and vibration senses, absent tendon reflexes in the legs, and extensor plantar responses.

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Pathophysiology
FRDA is a result of a mutation of a gene locus on chromosome 9. This mutation is characterized by an excessive number of repeats of the GAA (guanine adenine adenine) trinucleotide DNA sequence. This mutation result in a deficiency of frataxin, which causes defects of mitochondrial oxidative phosphorylation with accumulation of free radicals in tissues.

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The major pathophysiologic finding in FA is a "dying back phenomena" of axons, and a secondary gliosis. The primary sites of these changes are the spinal cord and spinal roots. Myocardial muscle fibers also show degeneration and are replaced by macrophages and fibroblasts.

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Epidemiology
FA is a relatively common disorder. It is the most common autosomal recessive ataxia, accounting for approximately 50% of all cases of hereditary ataxia. Estimates of incidence range anywhere from 1 in 22,000 to 2 in 100,000. Age: The onset of FA is early; it typically presents in children aged 8-15 years and almost always presents before age 20 years.

Clinical features:

Ataxia

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Onset of FA is early, with gait ataxia being the usual presenting symptom. As the disease progresses, ataxia affects the trunk, legs, and arms. Patients with advanced FA may have profound distal weakness of the legs. Eventually, the patient is unable to walk because of the progressive weakness and ataxia.

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The cardinal features of FA are as follows: Progressive limb and gait ataxia develops before the age of 30 years. Lower extremity tendon reflexes are absent. Evidence of axonal sensory neuropathy is noted. Extensor plantar responses (90%) Foot deformity, scoliosis, diabetes mellitus, and cardiac involvement are other common characteristics.

Investigations:

Ataxia

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Vitamin E levels were normal and no acanthocytes were identified. Magnetic resonance scan shows cervical cord atrophy with preserved cerebellar anatomy. Nerve conduction studies showed evidence of an axonal, mainly sensory, neuropathy. Echocardiography reveals symmetric, concentric ventricular hypertrophy. Approximately 65% of patients with FA have abnormal ECG findings. Genetic testing for GAA expansion is positive in 95% of the homozygous form.

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Treatment
There is currently no cure available for the majority of the cerebellar ataxias. Antioxident therapy including coenzyme Q10 and vitamin E are being evaluated. Supportive treatment includes physical therapy, speech therapy, psychological support and treatment of associated cardiac disease and diabetes. Genetic counseling should be offered.