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.