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Friedreich ataxia 2

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 (229300), which is caused by mutation in the FXN gene (606829) on chromosome 9q13. [from OMIM]

MedGen UID:
Concept ID:
Disease or Syndrome

Abnormal medulla oblongata morphology

An abnormality of the medulla oblongata, the lower half of the brainstem. [from HPO]

MedGen UID:
Concept ID:
Anatomical Abnormality

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