The document discusses ataxia, a neurological sign defined by lack of muscle coordination caused by dysfunction of the nervous system controlling movement. It specifically describes Friedreich's ataxia, the most common inherited form of ataxia caused by a genetic mutation. The document outlines the symptoms, signs, causes and treatments of ataxia in general and Friedreich's ataxia.

1. The Nervous System
Ataxia
And

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!

14. Resources Cited
 www.ataxia.org
 www.dinf.ne.jp
 www.myweb.tiscali.co.uk
 www.narcolepsynetwork.org
 www.ninds.nih.gov
 www.nytimes.com
 www.wikipedia.org