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Friedreich ataxia

Last updated: November 12, 2020

Summary

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 [1]
  • Peak incidence: 8–15 years (most cases < 25 years) [2][3]
  • Affects individuals of Central and Northern European descent [2]

Epidemiological data refers to the US, unless otherwise specified.

Etiology

References: [2][4]

Clinical features

Individuals with FRiedreich ATAXia have ATAXic GAAit due to the expansion of the triplet GAA in the FRATAXin gene.

Diagnostics

References:[4]

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:[4]

Prognosis

References:[5]

Prevention

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

References:[5]

References

  1. Cook A, Giunti P. Friedreich’s ataxia: clinical features, pathogenesis and management. Br Med Bull. 2017; 124 (1): p.19-30. doi: 10.1093/bmb/ldx034 . | Open in Read by QxMD
  2. Pandolfo M. Friedreich Ataxia. Arch Neurol. 2008; 65 (10). doi: 10.1001/archneur.65.10.1296 . | Open in Read by QxMD
  3. Friedreich Ataxia. http://www.omim.org/clinicalSynopsis/229300. Updated: October 6, 2011. Accessed: April 3, 2017.
  4. Ruano L, Melo C, Silva MC, Coutinho P. The Global Epidemiology of Hereditary Ataxia and Spastic Paraplegia: A Systematic Review of Prevalence Studies. Neuroepidemiology. 2014; 42 (3): p.174-183. doi: 10.1159/000358801 . | Open in Read by QxMD
  5. Michael H. Parkinson, Sylvia Boesch, Wolfgang Nachbauer, Caterina Mariotti, Paola Giunti. Clinical features of Friedreich's ataxia: classical and atypical phenotypes. J Neurochem. 2013; 126 : p.103-117. doi: 10.1111/jnc.12317 . | Open in Read by QxMD