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The Nervous System
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The Nervous System


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  • 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       