Friedreich's Ataxia

Physical Examination

Inspection:

• Kyphoscoliosis

• Lower limb atrophy

• Pes cavus

• Hammer toes

• Foot drop

Motor Examination:

Tone

• Generally reduced or normal

Power

• Distal weakness in lower limbs

Reflex

• Absent knee and ankle reflexes

• Bilateral upgoing plantar reflex (Babinski's sign)

Cerebellar Signs:

• Ataxic gait

• Dysmetria (heel-shin test)

Sensory Examination:

Soft Touch

• Decreased or absent in a distal to proximal gradient

Pin Prick

• Decreased or absent in a distal to proximal gradient

Vibration

• Reduced or absent vibration sense, more in lower extremities

Proprioception

• Reduced or absent proprioception

Additional Examination:

• Cardiac examination for hypertrophic cardiomyopathy

• Examination of eye movements for gaze-evoked nystagmus

• Dysarthria and dysphagia assessment

• Diabetes mellitus screening

• Upper limb coordination and reflexes assessment

• Cognitive evaluation for memory or learning issues

Investigations

Laboratory Investigations:

• Complete Blood Count: for any associated anemia

• Blood glucose: screening for diabetes mellitus, a common association

• Cardiac enzymes (troponin, CK-MB): for any cardiac involvement

• Genetic testing: confirmatory for the frataxin (FXN) gene mutation

Imaging:

• MRI Brain: to look for cerebellar atrophy

• Echocardiogram: to identify any hypertrophic cardiomyopathy

• X-ray spine: to identify any kyphoscoliosis

• Nerve conduction studies and EMG: to assess peripheral neuropathy

Invasive:

• Endomyocardial biopsy (only if necessary): to confirm cardiac involvement, generally not required

Other Tests:

• Audiometry: for sensorineural hearing loss

• Neuropsychological testing: for cognitive and learning issues

• Ophthalmologic examination: to check for optic atrophy, nystagmus

• Glucose tolerance test: to screen for diabetes mellitus

Management

General Management:

• Genetic counseling: For patient and family

• Regular follow-up: Monitor disease progression

• Physiotherapy: To maintain mobility and prevent contractures

• Occupational therapy: To maintain independence

• Speech therapy: For dysarthria

• Dietary advice: Healthy diet and regular exercise to prevent diabetes

Medical Management:

• Idebenone: Antioxidant, may slow disease progression

• Antispasmodics (Baclofen, Tizanidine): For muscle spasticity

• Gabapentin, Amitriptyline: For neuropathic pain

• ACE inhibitors or beta-blockers: For hypertrophic cardiomyopathy

• Insulin or oral hypoglycemic agents: If diabetes is present

Surgical Management:

• Cardiac surgery: For severe cardiomyopathy, if needed

• Orthopedic surgery: For severe skeletal deformities (pes cavus, scoliosis), if needed

Other:

• Support groups: Psychological support for patient and family

• Clinical trials: Consider involvement in research for potential new treatments

• Regular eye and hearing checks: To manage any associated vision and hearing loss

• Assistive devices: As required for maintaining independence (wheelchairs, modified vehicles, adaptive computer hardware/software)

Absent knee jerk and extensor plantars

• Motor neurone disease

• Friedreich’s ataxia

• Subacute combined degeneration of spinal cord (vitamin B12 deficiency)

• Taboparesis