Friedreich’s Ataxia

Routine for examination of lower limbs:


Inspect (wheelchair/walking aid/orthotic device, pes cavus)

Gait and Rhombergs





Sensation (prioritise joint position sense and vibration if suspect Friedrich’s ataxia)


If time allows and you suspect Friedreich’s ataxia proceed as follows:


Hands and arms: fingerprick marks (diabetes) and coordination (past pointing, intention tremor, dysdiadochokinesis, rebound)

Eye movements for nystagmus

Mouth (high arched palate) and speech e.g. “How did you get here today?” (dysarthric)

Ears: hearing aid, CN VIII (sensorineural hearing loss)

Chest: feel apex beat, listen to heart sounds, look for pacemaker (hypertrophic cardiomyopathy, conduction defects)

Back: check for kyphoscoliosis

Fundoscopy: optic atrophy



Present to the examiner:


This patient has a spastic paraparesis as evidenced by:


Increased tone

Pyramidal weakness

Upgoing plantars and clonus


The ankle (and knee) reflexes were however absent

There were cerebellar signs such as past pointing, intention tremor, dysdiadochokinesis, rebound, heel-shin ataxia, dysarthria, nystagmus. The patient was unable to walk/had an ataxic/spastic gait and there was a wheelchair/walking aid by the bedside

There were dorsal column signs (loss of vibration and joint position sense).

Rhomberg’s test was positive


I noticed pes cavus, kyphoscoliosis, hearing aid, pacemaker, diabetic fingerprick marks etc.


The combination of spinocerebellar signs, corticospinal tract signs and dorsal column loss is suggestive of Friedrich’s ataxia.


My differential diagnosis is:


  1. Friedreich’s ataxia
  2. Demyelination (would expect brisk reflexes)
  3. Other causes of mixed upper and lower motor neuron signs such as upgoing plantar with absent ankle jerk (subacute combined degeneration of the cord, taboparesis, cervical myelopathy with peripheral neuropathy, motor neuron disease)
  4. Vitamin E deficiency is a rare mimic of Friedrich’s ataxia



Friedreich’s Ataxia


A progressive neurodegenerative disorder

The most common inherited ataxia in the UK

Onset usually < 20 years old

Autosomal recessive. Frataxin gene on chromosome 9. Trinucleotide repeat (GAA).




Bloods: vitamin E level, glucose/Hba1c, B12, syphilis

Nerve conduction studies: absent/reduced sensory action potentials, increased motor velocity

MRI brain and spinal cord (atrophic changes may be seen)

ECG: LVH, arrhythmia

CXR: cardiomegaly

Echo: to assess for cardiomyopathy

Genetic testing

AMTS/MMSE (mild dementia)




Multidisciplinary approach (geneticist, physio, OT, neurology, cardiology, orthopaedics, diabetic nurse, orthotics, GP)

Annual neurology, cardiology, musculoskeletal and diabetes check

Manage complications: cardiac, orthopaedic, diabetes

Screen family members



Written by Dr Sarah Kennedy


Resources used to write this document are listed in the references section of this webpage