Friedreich ataxia
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Epidemiology
- most common inherited ataxia
Pathology
- hypertrophic cardiomyopathy
- cardiac conduction defects
- degeneration of spinal cord dorsal columns
- degeneration of neurons in:
- diabetes mellitus/carbohydrate intolerance
- iron-sulfur cluster enzyme deficiency
- iron deposits in myocardium at autopsy
Genetics
- autosomal recessive
- GAA trinucleotide expansion (100-1100) within the 1st intron of the frataxin (FRDA) gene resulting in severely decreased expression of frataxin
- in some cases the disease is due to mutations in the coding region of frataxin (FRDA) Clinical manifeactions:
- average age of onset is 10 years of age, usually manifest before adolescence
- progressive gait & limb ataxia
- dysarthria
- areflexia of lower limbs
- diminished vibratory sensation
- lower extremity weakness
- extensor plantar responses (Babinski's sign)
- scoliosis, pes cavus, & hammer toe
Laboratory
FriedreichFriedreichFriedreichFriedreich- serum transferrin is increased
Radiology
- magnetic resonance imaging
- iron deposits in dentate nucleus
Management
- amantadine may be of some value[2]
- omaveloxolone (Skyclarys) FDA-approved
More general terms
Additional terms
References
- ↑ Harrison's Principles of Internal Medicine, 13th ed. Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994, pg 1038
- ↑ 2.0 2.1 OMIM 229300
- ↑ Durr. Lancet Neurology 1:370-4, 2002
- ↑ National Institute of Neurological Disorders and Stroke (NINDS) NINDS Friedreich's Ataxia Information Page https://www.ninds.nih.gov/Disorders/All-Disorders/Friedreichs-Ataxia-Information-Page
Patient information
Friedreich ataxia patient information