Friedreich Ataxia, a Simple Guide to the Condition, Diagnosis, Treatment and Related Conditions

Friedreich ataxia is a rare disease and the most frequent inherited ataxia.
It is a degenerative disorder that mainly affects the nervous system, muscles and the heart.
It is often linked with cardiomyopathy or diabetes
There is progressive ataxia (in-coordination of muscles), dysarthria, reduced proprioception, vibration sense and muscle weakness.
The inheritance is autosomal recessive.
Cause
The gene disorder is a mutation of the frataxin gene (FXN) on chromosome 9.
Many patients (98%) have a GAA repeat expansion of the frataxin gene with the size of the expansion correlating with the severity of the disease
More infrequently there is a point mutation in one gene.
The mutation leads to reduced synthesis of frataxin, a mitochondrial protein.
Its poor function leads to mitochondrial dysfunction and oxidative injury to cells
The cellular injury mainly involves the nervous system and the heart (for unknown reasons).
The sensory neurons affecting proprioception are involved early and severely so ataxia is an early feature of the disease.
Symptoms
Friedreich's ataxia is a progressive neurodegenerative disorder, normally with start before 20 years of age.
Signs and symptoms are:
1. Progressive ataxia,
2. Ascending weakness and
3. Ascending loss of vibration and joint position senses,
4. Pes cavus,
5. Scoliosis,
6. Cardiomyopathy, and
7. Cardiac arrhythmias
Symptoms most often begin before puberty.
Symptoms may include:
1. Abnormal speech
2. Changes in vision, particularly color vision
3. Decrease in ability to feel vibrations in lower limbs
4. Foot problems, such as hammer toe and high arches
5. Hearing loss, this occurs in about 10% of people
6. Jerky eye movements
7. Loss of coordination and balance, which leads to frequent falls
8. Muscle weakness
9. No reflexes in the legs
10. Unsteady gait and uncoordinated movements (ataxia), which gets worse with time
Muscle disorders result in changes in the spine.
This may lead to scoliosis or kyphoscoliosis.
Heart disease most often forms and may result in heart failure.
Diagnostic investigations
1. Nerve conduction studies show motor velocities >40 ms-1 in arms and absent sensory action potentials.
2. Genetic analysis.
3. ECG - there may be ventricular hypertrophy and T-wave inversion.
4. Vitamin E deficiency is excluded.
Further investigations
1. Blood tests: FBC, U&E and glucose
2. Echocardiography may indicate ventricular hypertrophy, septal hypertrophy and hyper-trophic cardiomyopathy.
3. MRI scan of the brain and spinal cord
Treatment
Friedreich ataxia is a disease with multi-system participation.
Annual reviews should have evaluation of:
1. Neurology,
2. Cardiac function,
3. Musculoskeletal disorders,
4. A comprehensive systems review and
5. Blood tests (hematology and monitoring for diabetes).
Supportive treatment
1. Physiotherapy.
2. Speech and language therapy.
3. Occupational therapy.
System Treatments:
1. Treatment of cardiac failure and arrhythmias is using standard treatments.
2. Orthopedic surgery if there are problematic symptoms from scoliosis, pes cavus or equinovarus deformity of feet.
3. Foot deformities may also be assisted by botulinum toxin or splints.
4. Passive exercises and warming are required for peripheral cyanosis and cold feet.
5. Diabetes will normally require insulin.
6. Sphincter dysfunction symptoms (e.g., urgency)
7. Urodynamic assessment and treatments
8. Sexual dysfunction may need symptomatic treatment.
9. Counseling or antidepressants for depression
Treatment for Friedreich ataxia is:
1. Counseling
2. Speech therapy
3. Physical therapy
4. Walking aids or wheelchairs
5. Idebenone and interferon-gamma medical treatment

TABLE OF CONTENT
Introduction
Chapter 1 Friedreich Ataxia
Chapter 2 Causes
Chapter 3 Symptoms
Chapter 4 Diagnosis
Chapter 5 Treatment
Chapter 6 Prognosis
Chapter 7 Aphasia
Chapter 8 Achalasia
Epilogue