Friedreich ataxia
- Synonyms
- Hereditary spinal ataxia; Hereditary spinal sclerosis; Spinocerebellar ataxia, Friedreich
- Modes of inheritance
- Autosomal recessive inheritance (HPO, OMIM, Orphanet)
Summary
Excerpted from the GeneReview:Friedreich ataxia (FRDA) is characterized by slowly progressive ataxia with onset usually before age 25 years (mean age at onset: 10-15 yrs). FRDA is typically associated with dysarthria, muscle weakness, spasticity particularly in the lower limbs, scoliosis, bladder dysfunction, absent lower-limb reflexes, and loss of position and vibration sense. Approximately two thirds of individuals with FRDA have cardiomyopathy, up to 30% have diabetes mellitus, and approximately 25% have an "atypical" presentation with later onset or retained tendon reflexes.
- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- References
- Chapter Notes
- Authors:
- Sanjay I Bidichandani
- Martin B Delatycki
- view full author information
Available tests
14 tests are in the database for this condition.
Check Related conditions for additional relevant tests.
- ESC, 20142014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).
- EFNS/ENS, 2014EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood.
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