Friedreich Ataxia 2; Frda2
Description
Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder characterized by progressive gait and limb ataxia with associated limb muscle weakness, absent lower limb reflexes, extensor plantar responses, dysarthria, and decreased vibratory sense and proprioception. Onset is usually in the first or second decade, before the end of puberty (summary by Delatycki et al., 2000).For a general phenotypic description of Friedreich ataxia (FRDA), see FRDA1 (OMIM ), which is caused by mutation in the FXN gene (OMIM ) on chromosome 9q13.
Clinical Features
Top most frequent phenotypes and symptoms related to Friedreich Ataxia 2; Frda2
- Scoliosis
- Ataxia
- Nystagmus
- Muscle weakness
- Peripheral neuropathy
- Dysarthria
- Optic atrophy
- Cardiomyopathy
- Cerebellar atrophy
- Congestive heart failure
And another 27 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Sources and references
You can check the following sources for additional information.
MESH OMIM Genetic Syndrome FinderIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MYOFIBROMATOSIS, INFANTILE, 2; IMF2 MEGALOBLASTIC ANEMIA 1