Friedreich’s Ataxia
description
Transcript of Friedreich’s Ataxia
FRIEDREICH’S ATAXIADhanise Pagulayan and Keenan McKenna
Origin named after German
physician Nikolaus Friedreich
Discovered this inherited form of ataxia in 1860s
Ataxia: greek a- {negative/lacking} + -taxia {order} = lack of order
Introduction Inherited, progressive
nervous system disorder
Causes loss of balance/coordination
Autosomal recessive disease
Friedreich’s Ataxia: sensory and cerebellar
Most common inherited ataxia
Affects 3,000-5,000 people in U.S.
1-2 per 50,000 individuals
Different types of Ataxia:
Cerebellar - dysfunction of cerebellum. Cerebellum coordination of smooth/fluid
movements
Sensory – loss of sense of position of body parts.
- Can be caused by dysfunction of other parts of brain (ex: cerebellum)
Vestibular – dysfunction of vestibular system contributes to movement and sense of balance
Cause Two abnormal genes
inherited
Protein gene (frataxin) on chromosome 9 takes abnormal form and ends with repeats of amino acid glutamate
- known as “triple repeat”
Frataxin sequence normally repeats 10-21 times; in FA sequence may repeat 200-900 times
- More repeats = more severe
Symptoms Appear between ages 8-15
1. walking incoordination2. Arm incoordination (after
several years)3. Decreased hand-eye
coordination4. Speech/swallowing
difficulties 5. Diabetes may occur 6. Loss of visual
accuracy/hearing loss7. scoliosis 8. Heartbeat abnormalities in
majority of patients
Treatment Surgical Intervention-
Titanium Rods and Screws inserted into the spine to slow progression of scoliosis.
Assistive devices- Walkers, canes, wheelchairs
Heart Medications- Enalapril or Lisinopril, Digoxin
PT & OT
No Cure or direct Medical Treatment for FA
Prognosis About one in 50,000 people in the United States
have Friedreich's ataxia.
15-20 years within first symptoms, person is usually confined to wheelchair
Later Stages become completely incapacitated
Death in 50’s common
With proper care, patient can live into their 60’s
Research FARA- Friedrichs
Ataxia Research Alliance
NAF- National Ataxia Foundation
Want to use stem cells to rebuild neuro- muscular cells
Works Cited "FARA." The Friedreich's Ataxia Research Alliance. FARA, 2014.
Web. 28 Apr. 2014.
“Friedreich Ataxia (FA).” Pediatrics Clerkship. The University of Chicago, 2013. Web. 26 Apr. 2014.
Hum, Am J. “Friedreich Ataxia: From GAA Triplet–Repeat Expansion to Frataxin Deficiency.” The American Journal of Human Genetics. National Center for Biotechnology Information, U.S. National Library of Medicine, 2001. Web. 28 Apr. 2014.
Kaneshiro, Neil K. “Autosomal Recessive.” A.D.A.M. Inc., 2013. Web. 26 Apr. 2014.