Friedreich's Ataxia

Question 1

Age of onset

Answer 1

Normally before 25 years old.
Typically between 12-16 years old.
Possible for late onset up to 40- tends to milder.

Question 2

Prevalence

Answer 2

1.8 per 1000 people in the UK.

Both men and women are equally affected by this condition.

Question 3

Progression

Answer 3

average life expectancy= 40-50 years old.

Usually tend to lose the ability to walk 15 years after diagnosis.

Question 4

Cause

Answer 4

FA caused by recessive gene.
Fault in the frataxin gene- responsible for making protein frataxin,essential for cell survival. Gene mutation causes nerve cells to become damaged and and eventually die.

Question 5

Symptoms

Answer 5

Primary symptom- progressive ataxia of limbs, often evident through a difficulty to walk.
Dysphagia
Dysarthria
Shortness of breath
Heart palpitations

Question 6

Common type of dysarthria.

Answer 6

Ataxic

Question 7

SLT input

Answer 7

Dysphagia
Establish means of communication
Help them understand the changes they are undergoing- physically, mentally and emotionally

Question 8

Additional barriers to efffective communication.

Answer 8

Total or partial hearing impairment.
Visual Impairment
Loss of sensation in the hands
Coordination problems
Fatigue