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Dr. Andrew Rynne
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Dr. Andrew Rynne

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Article Home Children's Health Ataxia Friedreich

Ataxia Friedreich

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Friedreich's ataxia is an inherited disease that causes progressive damage to the nervous system resulting in symptoms ranging from gait disturbance and speech problems to heart disease. Friedreich's ataxia is the most prevalent inherited ataxia.

Causes

  • Friedreich's ataxia is an autosomal recessive congenital ataxia and is caused by a mutation in gene FXN (formerly known as X25, which codes for frataxin, located on chromosome 9.
  • The mutant gene contains expanded GAA triplet repeats in the first intron.
  • The primary site of pathology is spinal cord and peripheral nerves.

  • Sclerosis and degeneration of dorsal root ganglion, spinocerebellar tracts, lateral corticospinal tracts, and posterior columns

  • In peripheral nerves there is a loss of large myelinated fibres.

Clinical symptoms

Symptoms typically begin sometime between the ages of 5 to 15 years, but in Late Onset ataxia may occur in the 20s or 30s.

  • Muscle weakness in the arms and legs
  • Loss of coordination
  • Vision impairment
  • Hearing loss
  • Slurred speech
  • Curvature of the spine (scoliosis)
  • High plantar arches (pes cavus deformity of the foot)
  • Diabetes
  • Heart disorders (e.g., atrial fibrillation, and resultant tachycardia (fast heart rate) and hypertrophy cardiomyopathy)

Clinical signs

  • Cerebellar: Nystagmus, fast saccadic eye movements, truncal titubation, dysarthria, dysmetria.
  • Pyramidal: absent deep tendon reflexes, extensor plantar responses, and distal weakness are commonly found.
  • Dorsal column: Loss of vibratory and proprioceptive sensation occurs.
  • Cardiac involvement occurs in 91% of patients, including cardiomegaly (up to dilated cardiomyopathy), symmetrical hypertrophy, murmurs, and conduction defects.
  • Median age of death is 35 years, while females have better prognosis with a 20-year survival of 100% as compared to 63% in men.
  • 20% of cases are found in association with diabetes mellitus type 1 or 2 or pancreatic β cell dysfunction.

Treatment

Currently, there is a treatment approved is drug idebenone (co-enzyme Q 1o derivative).


As the disease may be associated with free radical damage to cells antioxidants such as Vitamin E and coenzyme Q10 are frequently prescribed.

 

  • Diabetes: use of insulin
  • Tremors: use of propranolol
  • Muscle spasms: use of dantrolene sodium
  • Curvature of the spine: orthopedic surgery or braces
  • Foot deformities: orthopedic surgery or braces
  • Vision problems: corrective devices such as glasses and contact lens, surgery or medication
  • Hearing problems: hearing aids, surgery or medication
  • Muscle function: the use of physical therapy. Physical therapy is the treatment of disorders or injuries with physical methods or agents such as exercise, massage, heat treatment, ice packs, hydrotherapy (water-based) and light therapy.
  • Cardiomyopathy: diuretic and antiarrhythmic drugs or heart transplant

 

A person suffering from Friedrich's Ataxia may require some surgical interventions (mainly for the spine and heart).


Often a metal rod is inserted in the spine to help prevent or slow the progression of scoliosis.


As progression of ataxia occurs, assistive devices such as a cane, walker, or wheelchair are required for mobility and independence.


Other assistive technology, such as a standing frame, can help reduce the secondary complications of prolonged use of a wheelchair.