2. Ataxia
Lack of muscle
coordination
• A- “no”
• -taxia “muscle
coordination”
• From Greek: “lack of
order”
• A neurological sign and
symptom consisting of
gross lack of coordination
of muscle movements
• A non-specific clinical
manifestation implying
dysfunction of parts of the
nervous system that
coordinate movement
• The cerebellum
3. Symptoms
staggered gait
problems with
balance
poor limb control
slurred speech
choking problems
irregular eye
movements
• nystagmus
From the New York Times, performers in "AtaXia," a dance inspired by the
loss of reflexes neurological disorder. In the performance, the dancers movements become
tentative and isolated. Dancers sink to the floor. Eventually their movements seem
“torn asunder”, body parts spasmodically jerking in different directions. The
dancers end up helplessly clumped and collapsed
4. Friedreich’s Ataxia
The most commonly
inherited spinocerebellar
ataxia named for Nicholaus
Friedreich a German
physician that first
described the disease in
the 1860’s
An inherited disease that
causes progressive
damage to the nervous
system
An autosomal recessive
congenital ataxia that is
caused by a mutation in
gene FXN that codes for
frataxin, located on
chromosome 9
5. Signs
Cerebellar:
• Nystagmus,
• Truncal titubation
• Dysarthria
• Dysmetria
Pyramidal:
• Absent deep tendon reflexes
• No extensor plantar responses
• Distal weakness
Dorsal column:
• Loss of vibratory and proprioceptive sensation
Cardiac involvement occurs in 91% of patients
• Cardiomegaly
• Symmetrical hypertrophy
• Murmurs
• Conduction defects
Median age of death is 35 years
20% of cases are found in association with diabetes mellitus type
1 or 2 or pancreatic beta cell dysfunction
6. Symptoms
Symptoms typically begin between the ages of 5
to 15 years
Late onset FA may occur in the 20s or 30s
Muscle weakness in the arms and legs
Loss of coordination
Vision impairment
Hearing loss
Slurred speech
Scoliosis
High plantar arches
Diabetes
Heart disorders
7. Tx
Currently no cure Check out
Treatment
approved in
Canada called
idebenone
Symptoms and
accompanying
complications can for more information!
be treated to help
patients maintain
optimal functioning
as long as possible
8. Did Honest Abe Have ataxia?
University of Minnesota scientists say they've found
evidence President Abraham Lincoln may have been a
victim of ataxia.
9. Narcolepsy
Narc/o “stupor”
-lepsy “seizure”
A chronic
neurological
disorder disrupting
the sleep-wake
cycle
Extreme
uncontrollable
desire to sleep
10. Symptoms
EDS
• Excessive daytime
sleepiness
Cataplexy
• Sudden loss of
voluntary muscle tone
Vivid hallucinations
• During sleep or upon
waking
Total paralysis
• Briefly at the beginning
or end of an episode
11. Causes
No known cause
Strong link to genetic conditions
• area of Chromosome 6 known as the
HLA complex
• Niemann-Pick disease
• Prader-Willi syndrome
May represent linkage disequillibrium
12. Tx
No known cure
Central nervous system stimulants used to treat
EDS:
• Methylphenidate
• racemic – amphetamine
• dextroamphetamine and methamphetamine
• modafinil
new stimulant with a different pharmacologic mechanism
Gamma-hydroxybutyrate (GHB)
• FDA approved drug for cataplexy
Planned, regular short naps can reduce the need
for pharmacological treatment
13. Don’t fall asleep yet…
It is estimated that as many
as 3 million people worldwide
are affected by narcolepsy
In the United States, it is
estimated that this condition
afflicts as many as 200,000
Americans
Fewer than 50,000 are
diagnosed
Depictions of the disorder
vary in accuracy in pop
culture
People with narcolepsy are
often unfairly judged as
lazy, unintelligent,
undisciplined, or
unmotivated
• Groups like
Narcolepsy Network can
help!
