Transcript Resting tremors Parkinson`s disease Essential tremor 11

Tremor
a rhythmic involuntary oscillation of a body
part , produced by either alternating or
synchronous contractions of reciprocally
innervated antagonistic muscles.
Types
1 - Resting tremors Parkinson's disease
11-Postural tremors
Essential tremor
a. exaggerated physiological tremor
b. Endocrine hypoglycemia – hyperthyroidism -heochromocytoma
c. Drugs and toxins
adrcnocorticosteroids, beta agonists,
dopamine agonists, amphetamines, lithium, tricyclic
antidepressants, narcoleptics, theophylline, caffeine,
valproic acid, alcohol withdrawal, mercury ,lead, arsenic,
111--Intention tremors
Cerebellar tremor
Physiological Tremor
fine tremor of the outstretched limbs usually not noticeable
except with electrophysiological recording
accentuated by fatigue, anxiety, fear, excitement, stimulant use,
and medical conditions such as hyperthyroidism
Essential Tremor
higher in men than in women and in whites Bilateral, largely
symmetrical postural or kinetic tremor in hands/forearms that is
visible and persistent ,Additional or isolated head tremor may
occur ; two thirds of patients give a positive family history of
tremor
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B-adrenergic blockers and primidone and anticholinergic
medications.
combination therapy may be more effective
Stereo tactic thalamotomy
Thalamic DBS
an autosomal recessive disorder of copper
metabolism related to mutations in the
ATP7B gene on chromosome 13
Neurological
parkinsonism, postural and kinetic. tremor, ataxia, titubation
chorea, seizures, dysarthria, or dystonia.
liver disease,ranging from cirrhosis to fulminant liver failure
Ophthalmologic :including slit-lamp examination essentially
always demonstrates copper deposition in Descemet's
membrane (Kayser-Fleischer rings] KF ring
Psychiatric ; behavioral psychosis
symptoms
usually
appear in the
2nd - 3rd
decade. The
first signs are
hepatic in
about 40% of
cases,
neurological
in about 35%
1. WD should be considered in any individual
between the ages of 3 and 55 years with liver abnormalities
of uncertain cause.
2. WD must be excluded in any patient young with neurological
or neuropsychiatric disorder.
3. In a patient in whom WD is suspected, KayserFleischer rings should be sought by slit-lamp examination
by a skilled examiner. The absence of KayserFleischer rings does not exclude the diagnosis of WD, even in
patients with predominantly neurological disease
screeining
1.Low serum ceruloplasmin,
2.the presence of KayserFleischer ring
Investigation
1.Low serum ceruloplasmin,
2.elevated 24-hour copper excretion
3.the presence of Kayser-Fleischer ring
4.Penicillamine challenge studies
5. elevated hepatic copper
Treatment
A.
ZINK –
B.
PENICILLAMINE:
C. TRIENTINE
CHOREA
means "a dance it is irregular,
unpredictable , semi-purposive
brief, jerky movements that flit
randomly from one part of the body
to another
•Hereditary choreas
•Huntington's disease
•Benign hereditary chorea
•Neuroacanthocytosis
• Neurometabolic disorders: Wilson's disease,, lysosomal
storage disorders, amino acid disorders hyperthyoidism
• Drugs: neuroleptics (tardive
dyskinesia), anti-parkinsonian drugs,•Infectious and post infectious
amphetamines, cocaine, tricyclics, Sydenham's chorea
Encephalitis lethargica
oral contraceptives
•Toxins: alcohol intoxication and
• Systemic lupus
withdrawal, anoxia, carbon
erythematosus
monoxide, manganese, mercury,
Stroke
thallium,
• Henoeh-Schonlein
purpura
Tumor
• Pregnancy (chorea gravidarum]
eyebrow lifting or depression, lid winking, lip pouting or
pursing, cheek puffing, lateral or forward jaw movements,
tongue rolling or protruding, head jerking in any plane (a
common pattern is a sudden, backward jerk followed by a
rotatory sweep forward), shoulder shrugging,
trunk jerking or arching, pelvic rocking, and flitting movements
of the fingers, wrists, toes, and ankles
the gait is irregular and lurching
Tone usually is normal to low
motor impersistence (e.g., difficulty maintaining eyelid closure,
tongue protrusion, or constant hand grip
"Milkmaid grip
Huntington's Disease
10 per 100,000
Completely penetrant autosomal dominant disease characterized by
1. progressive movement disorder
chorea
2. psychiatric and cognitive decline
euphoria agitation
hallucination delusion
3. terminal state of dementia and immobility
dementia
begins between the ages of 30 and 55
Atrophy of
• Cerebral cortex
• Corpus
striatum
•Dementia
•–psychological
chorea
• Blunted drive
Clinical features
• aggressiveness
1.
Personality and behavior changes
• Coarsening of
2.
Dementia more sever in early onset
personality
3.
Chorea
4.
Bedridden
Death – 15 years
5% presents with akinetic rigid Parkinson syndrome ;commonest
in children [westphal variant]
Epilepsy may be a feature
Investigation
MRI– CT scan
caudate atrophy
DNA analysis
Sydenham's Chorea :
appears months after the index infection ;affects girls more
than boys, between the ages of 5 and 15 years ; appears 3
months after onset of Rheumatic fever
Ataxia
imbalance and incoordination involving either gait and limbs it is
either due to
a disorder involving the cerebellum or its connections or due to
proprioceptive disorder
1.
2.
3.
Types
truncal ataxia
gait ataxia
appendicular ataxia
sensory ataxia
Cerebeller ataxia
Neurological Signs
1. Stance and gait :
tandem gait
Romberg test
Ataxic gait is characterized by a widened base and an irregular staggering
appearance
2. Limb incoordination
finger-to-nose test
heel-to-shin maneuver
Dysmetria
under-reached (hypometria) or over-reached
(hypermetria
Dysdiadochokinesis: This term refers to irregularity
of the rhythm and amplitude of rapid alternating
Movements
Dys synergia Decomposition of movements;
Rebound
phenomena
Romberg test + Impaired position and vibration sense and the
deep tendon reflexes
Friedreich '$ Ataxia
spinocerebeller disease
age at onset of younger than 25 years, typically early in
adolescence
1--Onset is with increasing gait difficulties and gait ataxia,
loss of proprioceptive sense in the lower limbs, and
absence of deep tendon reflexes,
2- Skeletal deformity pes cavus
3--upper motor neuron findings such as extensor plantar
responses and
4- O p t i c a t r o p h y
5-Rarely, patients may present with cardiac disease or .:
spinal deformity
• profound proprioceptive loss, areflexia, weakness of lower limb
muscles, dystonia, flexor spasms, and increasing dysarthria and
dysphagia
• Optic atrophy and hearing loss may occur in many patients
• Systemic abnormalities abnormal electrocardiogram
ecordings, hypertrophic cardiomyopathy in about 50% of the
patients, and diabetes in 10%. Skeletal abnormalities such as
spinal deformities and foot deformities are common
The mean age at death --late in the fourth decade---Cause of death
is usually cardiac
MRI scans of the brain reveal no abnormalities in the cerebellum;
rather, the upper cervical cord shows atrophy
Nerve conduction studies show early absence or reduction of
sensory nerve potentials in a diffuse fashion
The Fried Reich's Ataxia Mutation===the disease is
recessively inherited on chromosome 9
A tax ia-Telangiectasia the disease has its onset in the
first decade. Children develop progressive ataxia associated
with hypotonia, areflexia, peripheral neuropathy, and
choreoarhetosis
Telangiectasias develop over the conjunctivae ,ear
lobes, and other areas during the second half of the first
decade.
Many patients have decreased immunoglobulin A (IgA)
levels; decreased munoglobulin
E and immunoglobulin M levels, lymphocytopenia
Ataxia with Isolated Vitamin E Deficiency
childhood-onset
recessive ataxia associated with isolated vitamin E deficiency
causing ataxia, areflexia, proprioceptive loss, and
dysarthria
lower incidence of cardiomyopathy and
more frequent head titubation, compared
with patients with FA
Vitamin F levels should be obtained in all
persons with sporadic ataxia of childhood
or young adult onset. Patients withAVED
have typically less than 1.8 mg/L of
vitamin E in serum.
Treatment with large doses of vitamin E