3. Restless legs syndrome
• It is characterized by an unpleasant
creeping discomfort that seems to
arise deep within the legs and
occasionally the arms.
• Symptoms occur particularly when
patients are relaxed, especially
when lying down or sitting.
• Such symptoms may delay the
onset of sleep.
4. Restless legs syndrome
• A sleep disorder associated with
periodic movements during sleep may
also occur.
• Unknown cause.
• Disorder is especially common among
pregnant women and also among uremic
or diabtic patients with neuropathy.
• Genetic loci: 12q12-q21, 14q13-q31,
9p24-p22, 2q33, 20p13.
5. Restless legs syndrome
• Symptoms may resolve with
correction of coexisting iron-
deficiency anemia.
• Dopaminergic therapy is the preferred
treatment: long-acting dopamine
agonists (pramipexole 0,125-0,75 mg,
ropinirole 0,25-4,0 mg once daily).
• Augmentation is avoided with long-
acting dopamine agonists.
6. Restless legs syndrome
• Augmentation refers to the earlier
onset or enhancement of
symptoms, earlier onset of
symptoms at rest and a briefer
response to medication.
Other treatment:
• oxycodone
• gabapentin
• pregabalin
8. Wilson´s disease
Recessively inherited disorder of copper
metabolism: 13q14.3-q21.1
Reduced serum copper and ceruloplasmin
concentrations.
Markedly increased concentration of copper
in the brain and viscera.
Signs of hepatic and neurologic
dysfunction.
9. Wilson´s disease
• Neurologic signs: tremor, choreiform
movements, rigidity, hypokinesia,
dysarthria and dysphagia.
• Siblings of affected patients should be
screened for asymptomatic Wilson´s
disease.
• Treatment: removal of excess copper,
maintenance of copper balance, dietary
copper below 2 mg daily.
10. Wilson´s disease
• Penicillamine (dimethylcysteine) is a
chelating agent that forms a ring complex
with copper.
• It is readily absorbed from the
gastrointestinal tract and rapidly excreted in
the urine.
• Start dose: 500 mg three or four times daily.
• Adverse effects: nausea, vomiting, nephrotic
syndrome, lupus-like syndrome, pemphigus,
myasthenia, arthropathy, optic neuropathy,
blood dyscrasias.
11. Wilson´s disease
In about 10% of instances,
neurologic worsening occurs
with penicillamine.
Treatment should be monitored
by frequent urinalysis and
complete blood counts.
13. Wilson´s disease
Tetrathiomolybdate may be better
than trientine for preserving
neurologic function in patients with
neurologic involvement.
It is taken both with and
between meals.
14. Wilson´s disease
• Zinc acetate administered orally increases
the fecal excretion of copper and can be
used in combination with other agents.
• The dose is 50 mg three times a day.
• Zinc sulfate (200 mg/day per os) may also
be used to decrease copper absorption.
• Zinc blocks copper absorption from GI
tract by induction of intestinal cell
metallothionein.
15. Wilson´s disease
• Main advantage of zinc is its low toxicity
compared with that of other anticopper
agents.
• Zinc may cause gastric irritation when
introduced.
• Liver transplantation.
• Hepatocyte transplantation.
• Gene therapy.