• Clinical science

Friedreich ataxia

Abstract

Friedreich ataxia (FDRA) is an autosomal recessive disorder involving trinucleotide repeat expansion that leads to progressive neurodegeneration. It affects multiple spinal cord tracts, causing muscle weakness and impaired coordination of all limbs. A staggering gait in childhood is the resulting main symptom. Other features include skeletal abnormalities, cardiomyopathy, and diabetes. The clinical course is mainly determined by the extent of the loss of mobility and cardiac involvement. Diagnosis requires confirmation with genetic tests. Because there is no curative therapy available, the prognosis is poor.

Epidemiology

  • The most common autosomal recessive ataxia
  • Peak incidence: 8–15 years (most cases < 25 years)
  • Most common in white populations

References:[1][2]

Epidemiological data refers to the US, unless otherwise specified.

Etiology

References:[1][2]

Clinical features



References:[3]

Diagnostics

References:[1][2]

Treatment

  • No curative treatment available
  • Multidisciplinary supportive care: genetic counseling, physiotherapy, and speech and language therapy
  • Treatment of cardiologic, orthopedic, and metabolic (i.e., diabetes) features of the disease

References:[1][2]

Prognosis

References:[2][4]

Prevention

  • Carrier testing of relatives
  • Prenatal testing: Genetic counseling is recommended for parents with one affected child.

References:[4]