WK9 - Friedreich's Ataxia

Question 1

What is Friedreich’s Ataxia?

Answer 1

Relatively rare inherited disease of nervous system characterised by gradual loss of coordination

• increasing difficulty with coordination, leading to an unsteady gait and slurred speech

Question 2

What are the Sx of Friedreich’s ataxia caused by?

Answer 2

Gradual deterioration of nerve cells (neurones) in SC, cerebellum and brain
- prevents electrical messages from passing smoothly between neurones and muscles = poor coordination/movement

There is no cure, but some Sx can be managed with meds and physical therapy

Question 3

What causes Friedreich’s Ataxia?

Answer 3

Caused by change in FXN gene, located on chromosome 9 - altered gene interferes with production of protein called frataxin

• inherited in an autosomal recessive pattern - both parents have on altered gene but have a second healthy copy –> no sign of Sx.

Children of parents who are both healthy carriers of single altered FXN gene
= 25% being affected
= 50% chance of being carriers like their parents.

Question 4

What is the recommended Tx for person with Friedreich’s Ataxia?

Answer 4

Genetic counselling - for parents who have one child with condition as well as relatives with condition

Question 5

What are the Sx of Friedreich’s Ataxia?

Answer 5

Condition progresses slowly - at first person’s lack of coordination may be mistaken for clumsiness
* lack of coordination/balance
* unsteadiness in feet
* unsteadiness worse if can’t see (in dark)
* muscle weakness
* walking abnormalities
* lack of tendon reflexes in legs
* jerky movements
* speech difficulties
* swalloing problems
* increased risk of respiratory infections
* numbness
* abnormal skin sensation
* spinal curvatures - scoliosis

Question 6

What is the onset of Sx of Friedreich’s ataxia?

Answer 6

Occur on avg. 10-15y, seen as early as 4y or as late as middle age.

People with condition ultimately require use of wheelchair full-time, on avg. 15y from Sx onset.

Lifespan may decrease

Med tech cannot predict disease progression - some will progress faster than others

Question 7

What are some complications of Friedreich’s ataxia?

Answer 7

2/3 people will have heart problems - cardiomyopathy
* heart muscle fibres degenerate = impair heart functioning = causes palpitations and congestive HF

Other complications:
* diabetes
* visision problems - rarely blindness
* hearing difficulties

Question 8

How to Dx Friedreich’s ataxia?

Answer 8

• Med Hx
• physical examination
• electrical nerve conduction tests
• ECG
• echocardiogram - heart ultrasound
• x-rays
• MRI
• genetic testing - method for definitive diagnosis

Question 9

What is the Tx for Friedreich’s Ataxia?

Answer 9

No Cure :(
* Ex - aquatics for balance, flexibility and movement accuracy
* reg. heart monitoring
* reg. Ax of ataxia/muscle weakness
* speech pathologist
* maintaining healthy weight
* orthopaedic aids
* protective foot care
* home adaptations
* physio
* med for muscle tremors/spasms, heart palpitatations, diabetes
* surgery for abnormal spinal curvature

Question 10

What future research is recommended for Friedreich’s Ataxia?

Answer 10

• function of deficient protein (frataxin)
• may offer potential for future Tx